793:, and is also currently being used to replace the missing enzyme. In a study which included the largest cohort of patients with Pompe disease treated with enzyme replacement therapy (ERT) to date findings showed that Myozyme treatment clearly prolongs ventilator-free survival and overall survival in patients with infantile-onset Pompe disease as compared to an untreated historical control population. Furthermore, the study demonstrated that initiation of ERT prior to 6 months of age, which could be facilitated by newborn screening, shows great promise to reduce the mortality and disability associated with this devastating disorder. Taiwan and several states in the United States have started the newborn screening and results of such regimen in early diagnosis and early initiation of the therapy have dramatically improved the outcome of the disease; many of these babies have reached the normal motor developmental milestones.
42:
293:
801:
sites in the United States and Europe. Participants received either aglucosidase alfa or a placebo every other week for 18 months. The average age of study participants was 44 years. The primary efficacy endpoints of the study sought to determine the effect of
Myozyme on functional endurance as measured by the six-minute walk test and to determine the effect of aglucosidase alfa on pulmonary function as measured by percent predicted forced vital capacity.
474:
104:
226:
196:
485:, and two faulty copies of the gene—one from each parent—are required to be born with the disorder. As with all cases of autosomal recessive inheritance, children have a one in four chance of inheriting the disorder when both parents carry the defective gene, and although both parents carry one copy of the defective gene, they are usually not affected by the disorder.
407:. IOPD patients can be further classified by Cross-Reactive Immunological Material (CRIM) status and has been found to be an important predictor of clinical response. Patients that produce no GAA protein are referred to as CRIM negative. Therefore, they can develop high sustained antibody titers to enzyme replacement therapy (ERT). Immunomodulation or
1421:
809:
effective tool in managing disease progression. In one such study, side-alternating vibration training was used 3 times per week for 15 weeks. The results showed that, at 15 weeks, the patient had a 116-meter (70%) improvement to their 6MWT, which is significant compared with the results from the aforementioned LOTS study.
805:
The average baseline distance walked in six minutes in both groups was approximately 325 meters. Percent predicted forced vital capacity in the group of patients treated with aglucosidase alfa increased by 1.2 percent at 78 weeks. In contrast, it declined by approximately 2.2 percent in the placebo group (P=0.006).
864:, using the enzyme produced in Chinese hamster ovary (CHO) cells demonstrated for the first time that the enzyme can clear the glycogen and improved the muscle function in Pompe disease quail. The results of the work at Duke were impressive with one treated bird recovering to the point of being able to fly again.
721:
treatment prolongs ventilator-free survival and overall survival. Early diagnosis and early treatment leads to much better outcomes. The treatment is not without side effects which include fever, flushing, skin rash, increased heart rate and even shock; these conditions, however, are usually manageable.
1613:
Yang, Chia-Feng; Yang, Chen Chang; Liao, Hsuan-Chieh; Huang, Ling-Yi; Chiang, Chuan-Chi; Ho, Hui-Chen; Lai, Chih-Jou; Chu, Tzu-Hung; Yang, Tsui-Feng; Hsu, Ting-Rong; Soong, Wen-Jue; Niu, Dau-Ming (February 2016). "Very Early
Treatment for Infantile-Onset Pompe Disease Contributes to Better Outcomes".
908:
In 2021, in utero enzyme replacement therapy infusions were provided to the fetus of an Ottawa, Ontario, mother who had had two previous children with Pompe disease. The medical team was a collaboration between Ottawa
Hospital, Children's Hospital of Eastern Ontario, the University of California, San
782:
The prognosis for individuals with Pompe disease varies according to the onset and severity of symptoms, along with lifestyle factors. Without treatment the infantile form (which can typically be predicted by mutation analysis) of the disease is particularly lethal — in these cases, the time taken to
446:
The Late-onset (LOPD) form differs from the infantile-onset principally in the relative lack of cardiac involvement. The onset has a slower progression and can present at any decade of life. Cardiac involvement may occur but is milder than in the infantile form. Skeletal involvement is more prominent
1794:
Amalfitano A, Bengur AR, Morse RP, Majure JM, Case LE, Veerling DL, Mackey J, Kishnani P, Smith W, McVie-Wylie A, Sullivan JA, Hoganson GE, Phillips JA, Schaefer GB, Charrow J, Ware RE, Bossen EH, Chen YT (2001). "Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage
804:
The results showed that, at 78 weeks, patients treated with aglucosidase alfa increased their distance walked in six minutes by an average of approximately 25 meters as compared with the placebo group which declined by 3 meters (P=0.03). The placebo group did not show any improvement from baseline.
796:
Another factor affecting the treatment response is generation of antibodies against the infused enzyme, which is particularly severe in Pompe infants who have complete deficiency of the acid alpha-glucosidase. Immune tolerance therapy to eliminate these antibodies has improved the treatment outcome.
676:
Late or later onset form occurs later than one to two years and progresses more slowly than
Infantile-onset form. One of the first symptoms is a progressive decrease in muscle strength starting with the legs and moving to smaller muscles in the trunk and arms, such as the diaphragm and other muscles
672:
Infantile-onset form is usually diagnosed at 4–8 months; muscles appear normal but are limp and weak preventing the child from lifting their head or rolling over. As the disease progresses, heart muscles thicken and progressively fail. Without treatment, death usually occurs due to heart failure and
875:
The currently approved
Myozyme is manufactured by Genzyme Corp. in Cambridge, Massachusetts. Its development was a complex process. Genzyme first partnered with Pharming Group NV who had managed to produce acid alpha-glucosidase from the milk of transgenic rabbits. They also partnered with a second
720:
The FDA approved
Myozyme for administration by intravenous infusion of the solution. The safety and efficacy of Myozyme were assessed in two separate clinical trials in 39 infantile-onset patients with Pompe disease ranging in age from 1 month to 3.5 years at the time of the first infusion. Myozyme
808:
There is an emerging recognition of the role that diet and exercise can play in functionally limiting symptom progression. This is an area for further study, as there is not a clear consensus guideline, but rather a body of case study work that suggests that appropriate physical activity can be an
800:
A Late Onset
Treatment Study (LOTS) was published in 2010. The study was undertaken to evaluate the safety and efficacy of aglucosidase alfa in juvenile and adult patients with Pompe disease. LOTS was a randomized, double-blind, placebo-controlled study that enrolled 90 patients at eight primary
461:
One of the difficulties with attributing the illness solely to genetic deficiencies is that, even between people as genetically similar as identical twins, the symptoms may differ. For example, one may be in pain, whilst the other may not. Similarly, the rate of muscle deterioration of one may be
867:
This was followed by production of clinical grade alpha-glucosidase in
Chinese hamster ovary (CHO) cells and in the milk of transgenic rabbits. This work eventually culminated in the start of clinical trials with the first clinical trial including four babies receiving enzyme from rabbit milk at
2148:
Cohen, Jennifer L.; Chakraborty, Pranesh; Fung-Kee-Fung, Karen; Schwab, Marisa E.; Bali, Deeksha; Young, Sarah P.; Gelb, Michael H.; Khaledi, Hamid; DiBattista, Alicia; Smallshaw, Stacey; Moretti, Felipe; Wong, Derek; Lacroix, Catherine; El
Demellawy, Dina; Strickland, Kyle C.; Lougheed, Jane;
685:
Cardiac and respiratory complications are treated symptomatically. Physical and occupational therapy may be beneficial for some patients. Alterations in diet may provide temporary improvement but will not alter the course of the disease. Genetic counseling can provide families with information
640:
may be used initially to distinguish Pompe from other causes of limb weakness. The findings on biochemical tests are similar to those of the infantile form, with the caveat that the creatine kinase may be normal in some cases. The diagnosis is by estimation of the enzyme activity in a suitable
728:
approved
Myozyme for the treatment of Pompe disease. In June 2007, the Canadian Common Drug Review issued their recommendations regarding public funding for Myozyme therapy. Their recommendation was to provide funding to treat a tiny subset of Pompe patients (Infants less one year of age with
821:, who characterized it in 1932. Pompe described accumulation of glycogen in muscle tissue in some cases of a previously unknown disorder. This accumulation was difficult to explain as the enzymes involved in the usual metabolism of glucose and glycogen were all present and functioning.
891:
became involved in the fund-raising efforts in 1998 after two of his children were diagnosed with Pompe. He joined the company Novazyme in 1999, which was working on enzyme replacement treatment for Pompe. Novazyme was sold to Genzyme in 2001 for over US$ 100 million. The 2010 film
437:
Before the development of a treatment, median age at death in untreated cases was 8.7 months, usually due to cardiorespiratory failure. However, this outcome is drastically changed since enzyme replacement therapy has become available, improving with early initiation of treatment.
880:
organised a systematic comparison of the various potential drugs in a mouse model of Pompe disease. It was found that the Duke enzyme was the most efficacious, followed by Myozyme. However, due to easier manufacture of Myozyme, work on the other products was discontinued.
736:
for the treatment of late-onset Pompe disease. Lumizyme and Myozyme have the same generic ingredient (alglucosidase alfa) and manufacturer (Genzyme Corporation). The difference between these two products is in the manufacturing process. Myozyme is made using a 160-L
876:
group based at Duke University using Chinese hamster ovary cells. In 2001, Genzyme acquired Novazyme which was also working on this enzyme. Genzyme also had its own product (Myozyme) grown in CHO cells under development. In November 2001, Genzyme chief executive
500:
at 17q25.2-q25.3 (base pair 75,689,876 to 75,708,272). The number of mutations described is currently (in 2010) 289 with 67 being non-pathogenic mutations and 197 pathogenic mutations. The remainder are still being evaluated for their association with disease.
884:
Funding for research in this field was in part provided by the Muscular Dystrophy Association and the Acid Maltase Deficiency Association in the US, and by the Association of Glycogen Storage Disease in the UK, as well as the International Pompe Association.
1657:
Matsuoka, Takashi; Miwa, Yoshiyuki; Tajika, Makiko; Sawada, Madoka; Fujimaki, Koichiro; Soga, Takashi; Tomita, Hideshi; Uemura, Shigeru; Nishino, Ichizo; Fukuda, Tokiko; Sugie, Hideo; Kosuga, Motomichi; Okuyama, Torayuki; Umeda, Yoh (November 18, 2016).
668:
determines the type of GSD-II an individual may have. More alpha-glucosidase present in the individual's muscles means symptoms occur later in life and progress more slowly. GSD-II is broadly divided into two onset forms based on the age symptoms occur.
426:, hypernasal speech, hearing loss, and myopathic facies. Cardiopulmonary involvement is manifested by increased respiratory rate, use of accessory muscles for respiration, recurrent chest infections, decreased air entry in the left lower zone (due to
741:, while Lumizyme uses a 4000-L bioreactor. Because of the difference in the manufacturing process, the FDA claims that the two products are biologically different. Myozyme is FDA approved for replacement therapy for infantile-onset Pompe disease.
2892:
2877:
1438:
844:
Despite recognizing the basis for the disease, treatment proved difficult. Administration of the enzyme lead to its uptake by the liver and not the muscle cells where it is needed. In the early 1990s Dutch scientists
2328:
836:
realised in 1965 that the deficiency of a lysosomal enzyme (alpha glucosidase) for the breakdown of glycogen could explain the symptoms of Pompe disease. This discovery led to establishing the concept of
677:
required for breathing. Respiratory failure is the most common cause of death. Enlargement of the heart muscles and rhythm disturbances are not significant features but do occur in some cases.
335:
enzyme (GAA). The inability to breakdown glycogen within the lysosomes of cells leads to progressive muscle weakness throughout the body and affects various body tissues, particularly in the
2321:
1660:"Divergent clinical outcomes of alpha-glucosidase enzyme replacement therapy in two siblings with infantile-onset Pompe disease treated in the symptomatic or pre-symptomatic state"
594:
In the early-onset form, an infant will present with poor feeding causing failure to thrive, or with difficulty breathing. The usual initial investigations include chest X ray,
2515:
649:
853:
were able to show that using alpha-glucosidase containing phosphorylated mannose residues purified from bovine testes increased the enzyme's activity in normal mouse muscles.
114:
1083:"Predicting Cross Reactive Immunological Material (CRIM) Status in Pompe Disease Using GAA Mutations: Lessons Learned from 10 Years of Clinical Laboratory Testing Experience"
724:
Myozyme costs an average of US$ 300,000 a year and must be taken for the patients' entire life, so some American health insurers have refused to pay for it. In August 2006,
2105:
Van den Hout H, Reuser AJ, Vulto AG, Loonen MC, Cromme-Dijkhuis A, Van der Ploeg AT (July 2000). "Recombinant human alpha-glucosidase from rabbit milk in Pompe patients".
3026:
2314:
2306:
1562:
2793:
1307:
2809:
1522:
1365:
1489:
2410:
2341:
934:
2216:
633:), muscle biopsy (muscle cells) or in white blood cells. The choice of sample depends on the facilities available at the diagnostic laboratory.
508:
with the first exon being noncoding. The coding sequence of the putative catalytic site domain is interrupted in the middle by an intron of 101
3016:
770:) 65 mg capsules for adults living with late-onset Pompe disease weighing more than 40 kg and who are not improving on their current
175:
752:. Avalglucosidase alfa (Nexviazyme) was approved for medical use in the United States in August 2021, and in the European Union in June 2022.
1032:
Prater SN, Banugaria SG, DeArmey SM, Botha EG, Stege EM, Case LE, Jones HN, Phornphutkul C, Wang RY, Young SP, Kishnani PS (September 2012).
147:
2270:
2720:
63:
759:. The approval was given in June 2023. In the EU, the therapy is available to all age groups without restrictions on weight of patients.
3031:
2907:
154:
313:
2765:
653:
387:
The infantile-onset (IOPD) form usually comes to medical attention within the first few months of life, either clinically or through
2609:
2009:"Intravenous administration of phosphorylated acid alpha-glucosidase leads to uptake of enzyme in heart and skeletal muscle of mice"
968:
709:
using biologically active recombinant human alglucosidase alfa produced in Chinese Hamster Ovary cells. Myozyme falls under the FDA
636:
In the late-onset form, an adult will present with gradually progressive arm and leg weakness, with worsening respiratory function.
85:
1563:"Muscular Dystrophy Association Celebrates FDA Approval of Amicus Therapeutics' Pombiliti + Opfolda for Treatment of Pompe Disease"
1213:
161:
2627:
2615:
2564:
888:
1339:
2770:
2760:
2621:
2570:
2558:
2485:
2405:
1398:
869:
2714:
2519:
143:
1588:
2709:
894:
2843:
1404:
1218:
1190:
1158:
918:
694:
690:
122:
458:, progressive muscle weakness, delayed motor milestones, difficulty swallowing or chewing and reduced vital capacity.
1439:"FDA approves Nexviazyme (avalglucosidase alfa-ngpt), an important new treatment option for late-onset Pompe disease"
645:
465:
Prognosis depends on the age of onset of symptoms with a better prognosis being associated with later onset disease.
56:
50:
2149:
Moon-Grady, Anita; Lianoglou, Billie R.; Harmatz, Paul; Kishnani, Priya S.; MacKenzie, Tippi C. (November 9, 2022).
1184:
2725:
2337:
771:
706:
1254:
1131:
644:
On May 17, 2013, the Secretary's Discretionary Advisory Committee on Heritable Diseases in Newborns and Children (
133:
118:
2785:
2649:
1494:
1465:
1370:
1314:
939:
838:
745:
603:
67:
2918:
2798:
2510:
2351:
923:
570:
in affected individuals. Excessive glycogen storage within lysosomes may interrupt normal functioning of other
359:
656:). The HHS secretary must first approve the recommendation before the disease is formally added to the panel.
168:
481:
Pompe disease has an autosomal recessive inheritance pattern. This means the defective gene is located on an
2431:
1922:"Side-Alternating Vibration Training Improves Muscle Performance in a Patient with Late-Onset Pompe Disease"
1376:
1285:
818:
363:
1750:
Chien YH; Lee, NC; Thurberg, BL; Chiang, SC; Zhang, XK; Keutzer, J; Huang, AC; Wu, MH; et al. (2009).
1500:
3036:
2420:
790:
618:
582:
535:
493:
332:
2243:
2994:
2830:
2730:
2480:
527:(T → G) mutation is the most common among adults with this disorder. This mutation interrupts a site of
362:
characterised by a defect in lysosomal metabolism. It was first identified in 1932 by Dutch pathologist
850:
2058:"Clinical and metabolic correction of pompe disease by enzyme therapy in acid maltase-deficient quail"
1523:"Amicus Therapeutics Announces Approval and Launch of New Pompe Disease Therapy in the European Union"
763:
756:
749:
626:
622:
292:
3021:
2896:
2386:
2381:
846:
317:
1707:
Wagner KR (2007). "Enzyme replacement for infantile Pompe disease: the first step toward a cure".
2633:
2581:
2198:
2130:
1902:
1732:
1639:
944:
698:
320:
983:"An analysis of Pompe newborn screening data: a new prevalence at birth, insight and discussion"
909:
Francisco, and Duke University. The child, born in June 2021, is thriving as of November 2022.
1460:
701:, rhGAA (Myozyme), the first treatment for patients with Pompe disease, developed by a team of
562:. The deficiency of this enzyme results in the accumulation of structurally normal glycogen in
2972:
2929:
2688:
2190:
2172:
2122:
2087:
2038:
1953:
1894:
1853:
1812:
1773:
1724:
1689:
1631:
1537:
1255:"Myozyme (alglucosidase alfa) Injectable for intravenous infusion Initial U.S. Approval: 2006"
1112:
1063:
1014:
825:
665:
595:
513:
404:
388:
281:
629:. Diagnosis is made by estimating the acid alpha glucosidase activity in either skin biopsy (
323:
which damages muscle and nerve cells throughout the body. It is caused by an accumulation of
2425:
2414:
2180:
2162:
2114:
2077:
2069:
2028:
2020:
1943:
1933:
1884:
1843:
1804:
1763:
1752:"Pompe disease in infants: improving the prognosis by newborn screening and early treatment"
1716:
1679:
1671:
1623:
1102:
1094:
1053:
1045:
1004:
994:
637:
599:
247:
2752:
1589:"Amicus Therapeutics Announces FDA Approval and Launch of New Treatment for Pompe Disease"
861:
857:
714:
702:
610:
340:
233:
Muscle biopsy showing large vacuoles in a case of Pompe disease (HE stain, frozen section)
1990:
1223:
2185:
2150:
1009:
982:
2592:
2576:
2459:
2396:
2345:
1948:
1921:
1720:
1684:
1659:
1107:
1082:
1058:
1033:
392:
348:
17:
2901:
2118:
2082:
2057:
2033:
2008:
577:
A putative homologue—acid alpha-glucosidase-related gene 1—has been identified in the
3010:
2825:
2803:
2665:
2202:
1808:
1425:
928:
877:
833:
725:
607:
497:
408:
355:
286:
28:
2134:
1736:
1280:
2550:
2500:
2372:
1906:
1643:
902:
783:
begin treatment is critical, with evidence that days (not weeks or months) matter.
528:
524:
477:
Glycogen storage disease type II has an autosomal recessive pattern of inheritance.
427:
423:
419:
411:
has been found to be an effective treatment to prevent an immune response to ERT.
396:
2958:
2923:
963:
872:
and three babies receiving enzyme grown in CHO cells at Duke University in 1999.
2978:
2273: - US National Institute of Arthritis and Musculoskeletal and Skin Diseases
1675:
1627:
829:
710:
2961:
2983:
2967:
2934:
2886:
2837:
2697:
2007:
Van der Ploeg AT, Kroos MA, Willemsen R, Brons NH, Reuser AJ (February 1991).
999:
738:
630:
555:
517:
431:
2176:
1162:
2953:
2496:
1995:
1034:"The emerging phenotype of long-term survivors with infantile Pompe disease"
767:
571:
567:
539:
509:
455:
415:
400:
225:
2217:"Rare, deadly genetic disease successfully treated in utero for first time"
2194:
2126:
1957:
1898:
1857:
1816:
1777:
1768:
1751:
1728:
1693:
1635:
1308:"Canadian Common Drug Review Recommendations on Public Funding for Myozyme"
1132:"Federal Advisory Committee Recommends Pompe Disease for Newborn Screening"
1116:
1067:
1018:
762:
In September 2023, the FDA approved a two-component therapy of Pombiliti (
473:
2167:
2091:
2042:
1938:
1889:
1872:
2989:
2645:
2541:
2470:
2151:"In Utero Enzyme-Replacement Therapy for Infantile-Onset Pompe's Disease"
1848:
1831:
1098:
733:
614:
578:
563:
559:
547:
482:
418:
appearance, delayed motor milestones, and feeding difficulties. Moderate
328:
324:
2869:
1049:
2684:
2537:
2450:
2360:
786:
551:
132:
if you can. Unsourced or poorly sourced material may be challenged and
2024:
2881:
2847:
2705:
2446:
543:
2073:
1971:
Pompe, J.C. (1932). "Over idiopathische hypertrophie van het hart".
1873:"A randomized study of alucosidase alfa in late-onset Pompe disease"
602:. Typical findings are those of an enlarged heart with non specific
1832:"Elimination of antibodies to recombinant enzyme in Pompe disease"
1830:
Mendelsohn NJ; Messinger, YH; Rosenberg, AS; Kishnani, PS (2009).
905:
in hopes of helping the body create alpha-glucosidase on its own.
613:(typically increased 10 fold) with lesser elevations of the serum
472:
451:
403:, respiratory distress, muscle weakness, feeding difficulties and
344:
336:
1424:
This article incorporates text from this source, which is in the
1185:"Drug Approval Package: Myozyme (Alglucosidase Alfa) NDA #125141"
546:
that normally degrades the alpha -1,4 and alpha -1,6 linkages in
366:, making it the first glycogen storage disease to be discovered.
2912:
2741:
2056:
Kikuchi T, Yang HW, Pennybacker M, et al. (February 1998).
505:
489:
2310:
2303:— International Association for Muscle Glycogen Storage Disease
1920:
Khan, Aneal; Ramage, Barbara; Robu, Ion; Benard, Laura (2009).
789:(alglucosidase alfa) is a recombinant form of the human enzyme
2279:— Association of Glycogen Storage Disease in the United States
1340:"Lumizyme- alglucosidase alfa injection, powder, for solution"
1161:. The Association for Glycogen Storage Disease. Archived from
520:
is high (80%) and distinct TATA and CCAAT motifs are lacking.
97:
35:
2294:
1991:
Genetics of Glycogen-Storage Disease Type II (Pompe Disease)
2662:(Pompe's disease, glucosidase deficiency, formerly GSD-IIa)
755:
In December 2022, the EMA recommended the authorization of
265:
31:(GSD-IIb), which has similar symptoms but a different gene.
1795:
disease type II: results of a phase I/II clinical trial".
374:
The total birth prevalence of Pompe disease is 1:18,698.
256:
2300:
2288:
2276:
652:
to add Pompe to the Recommended Uniform Screening Panel (
2773:(von Gierke's disease, glucose 6-phosphatase deficiency)
2618:(Hers' disease, liver glycogen phosphorylase deficiency)
2244:"The Disease Took Zara, Then Sara. Could Ayla Be Saved?"
558:
and is required for the degradation of 1–3% of cellular
828:'s discovery of lysosomes in 1955 for which he won the
219:
Pompe disease; acid maltase deficiency; GSD-IIa; LGMD2V
129:
2282:
2291:— Acid Maltase Deficiency Association (Pompe disease)
901:
As of 2019, many biomedical companies are developing
2859:
2842:
Fatal congenital nonlysosomal cardiac glycogenosis (
262:
253:
2944:
2863:
2818:
2784:
2751:
2696:
2683:
2643:
2600:
2591:
2549:
2536:
2494:
2468:
2458:
2445:
2395:
2371:
2359:
2285:— Association of Glycogen Storage Disease in the UK
1249:
1247:
1245:
1243:
1241:
504:The gene spans approximately 20 kb and contains 20
422:may or may not be present. Facial features include
280:
259:
250:
237:
215:
210:
824:The basis for the disease remained a puzzle until
523:Most cases appear to be due to three mutations. A
2717:(Tarui's disease, phosphofructokinase deficiency)
2567:(Andersen's disease, branching enzyme deficiency)
2984:Glycogen Storage Disease Type II (Pompe Disease)
2624:(McArdle's disease, myophosphorylase deficiency)
512:. The promoter has features characteristic of a
211:Pompe disease (Glycogen storage disease type II)
2612:(Cori's disease, debranching enzyme deficiency)
1789:
1787:
1399:"FDA Approves New Treatment for Pompe Disease"
128:Please review the contents of the article and
2322:
2161:(23). Massachusetts Medical Society: 2150–8.
841:, of which 49 have been described (to date).
496:: also known as acid maltase) on long arm of
8:
2794:Glucose-6-phosphate dehydrogenase deficiency
1281:"As Costs Rise, New Medicines Face Pushback"
606:defects. Biochemical investigations include
2810:6-phosphogluconate dehydrogenase deficiency
2860:
2693:
2597:
2546:
2465:
2455:
2368:
2329:
2315:
2307:
291:
224:
207:
2742:Mitochondrial pyruvate carrier deficiency
2184:
2166:
2081:
2032:
1947:
1937:
1888:
1847:
1767:
1683:
1664:Molecular Genetics and Metabolism Reports
1106:
1057:
1008:
998:
898:is based on Crowley's search for a cure.
488:The disease is caused by a mutation in a
447:with a predilection for the lower limbs.
86:Learn how and when to remove this message
3027:Inborn errors of carbohydrate metabolism
2411:Inborn errors of renal tubular transport
1153:
1151:
1149:
935:Inborn errors of carbohydrate metabolism
49:This article includes a list of general
1441:(Press release). Sanofi. August 6, 2021
955:
748:(EMA) recommended the authorization of
686:regarding risk in future pregnancies.
650:Secretary of Health and Human Services
870:Erasmus MC Sophia Children's Hospital
713:designation and was approved under a
450:Late onset features include impaired
7:
2721:Triosephosphate isomerase deficiency
2668:(LAMP2 deficiency, formerly GSD-IIb)
1087:American Journal of Medical Genetics
664:There are exceptions, but levels of
391:. The usual presenting features are
2735:Phosphoglucose isomerase deficiency
2636:(PGM1-CDG, CDG1T, formerly GSD-XIV)
1499:. December 16, 2022. Archived from
1081:Bali, Deeksha (February 15, 2012).
648:) approved a recommendation to the
538:(EC 3.2.1.20)—which is a lysosomal
414:The main clinical findings include
331:due to deficiency of the lysosomal
312:, and formerly known as GSD-IIa or
2766:Fructose bisphosphatase deficiency
2738:Phosphoglycerate kinase deficiency
1721:10.1212/01.wnl.0000253226.13795.40
1159:"Type II Glycogen Storage Disease"
144:"Glycogen storage disease type II"
55:it lacks sufficient corresponding
25:
2630:(phosphorylase kinase deficiency)
2297:— International Pompe Association
2242:Kolata, Gina (November 9, 2022).
1366:"Nexviadyme: Pending EC decision"
434:, and evidence of heart failure.
2973:Glycogen storage disease type II
2660:Glycogen storage disease type II
1809:10.1097/00125817-200103000-00008
1490:"Pombiliti: Pending EC decision"
1419:
303:Glycogen storage disease type II
246:
194:
102:
40:
2761:Pyruvate carboxylase deficiency
2571:Adult polyglucosan body disease
2406:Glucose-galactose malabsorption
2155:New England Journal of Medicine
1409:(Press release). August 6, 2021
1375:. July 23, 2021. Archived from
1214:"FDA Approval News for Myozyme"
705:researchers. This was based on
2561:(glycogen synthase deficiency)
1567:Muscular Dystrophy Association
1279:Anand G (September 18, 2007).
732:In May 2010, the FDA approved
454:, recurrent chest infections,
314:Limb–girdle muscular dystrophy
130:add the appropriate references
1:
3017:Autosomal recessive disorders
2634:Phosphoglucomutase deficiency
2119:10.1016/S0140-6736(00)02533-2
981:Colburn R; Lapidus D (2024).
574:and lead to cellular injury.
2844:AMP-activated protein kinase
1405:Food and Drug Administration
1219:Food and Drug Administration
1191:Food and Drug Administration
919:Autophagic vacuolar myopathy
695:biologic license application
691:Food and Drug Administration
2271:Understanding Pompe Disease
1676:10.1016/j.ymgmr.2016.11.001
1628:10.1016/j.jpeds.2015.10.078
817:The disease is named after
534:The gene encodes a protein—
115:reliable medical references
3053:
3032:Lysosomal storage diseases
2806:(Transketolase deficiency)
2726:Pyruvate kinase deficiency
1449:– via GlobeNewswire.
839:lysosomal storage diseases
772:enzyme replacement therapy
707:enzyme replacement therapy
689:On April 28, 2006, the US
26:
2786:Pentose phosphate pathway
2352:glycogen storage diseases
1871:Van der Ploeg AT (2010).
1616:The Journal of Pediatrics
1542:European Medicines Agency
1495:European Medicines Agency
1466:European Medicines Agency
1371:European Medicines Agency
1000:10.3389/fped.2023.1221140
940:Lysosomal storage disease
764:cipaglucosidase alfa-atga
746:European Medicines Agency
360:glycogen storage diseases
232:
223:
121:or relies too heavily on
2799:Transaldolase deficiency
1926:Case Reports in Medicine
1536:EMA (December 9, 2022).
924:Glycogen storage disease
27:Not to be confused with
2584:(glycogenin deficiency)
2432:Fanconi-Bickel syndrome
2342:carbohydrate metabolism
1973:Ned. Tijdschr. Geneeskd
1286:The Wall Street Journal
987:Frontiers in Pediatrics
971:Genetics Home Reference
832:in 1974. His co-worker
819:Joannes Cassianus Pompe
462:faster than the other.
364:Joannes Cassianus Pompe
70:more precise citations.
18:Acid maltase deficiency
2421:Fructose malabsorption
1769:10.1542/peds.2008-3667
895:Extraordinary Measures
791:acid alpha-glucosidase
673:respiratory weakness.
619:aspartate transaminase
583:Caenorhabditis elegans
536:acid alpha-glucosidase
494:acid alpha-glucosidase
478:
383:Infantile-Onset (IOPD)
333:acid alpha-glucosidase
2831:Primary hyperoxaluria
2731:Aldolase A deficiency
2481:Essential fructosuria
2348:metabolism disorders
2168:10.1056/nejmoa2200587
1890:10.1056/NEJMoa0909859
476:
2486:Fructose intolerance
2382:Congenital alactasia
1849:10.1056/NEJMc0806809
1797:Genetics in Medicine
1569:. September 28, 2023
1503:on December 18, 2022
1099:10.1002/ajmg.c.31319
945:Metabolic myopathies
757:cipaglucosidase alfa
750:avalglucosidase alfa
627:lactic dehydrogenase
623:alanine transaminase
542:. The protein is an
2387:Sucrose intolerance
1939:10.1155/2009/741087
1346:. February 22, 2020
1320:on January 29, 2019
1130:Genetic, Alliance.
1050:10.1038/gim.2012.44
318:autosomal recessive
2945:External resources
2434:(GLUT2 deficiency)
2428:(GLUT1 deficiency)
2248:The New York Times
2223:. November 9, 2022
1134:. Genetic Alliance
931:(formerly GSD-IIb)
860:and colleagues at
744:In July 2021, the
699:alglucosidase alfa
479:
378:Signs and symptoms
321:metabolic disorder
3004:
3003:
2857:
2856:
2780:
2779:
2744:(MPC1 deficiency)
2679:
2678:
2675:
2674:
2532:
2531:
2528:
2527:
2441:
2440:
2025:10.1172/JCI115025
1883:(15): 1396–1406.
1461:"Nexviadyme EPAR"
851:Ans van der Ploeg
826:Christian de Duve
729:cardiomyopathy).
693:(FDA) approved a
666:alpha-glucosidase
596:electrocardiogram
514:housekeeping gene
405:failure to thrive
389:newborn screening
300:
299:
205:Medical condition
203:
202:
179:
96:
95:
88:
16:(Redirected from
3044:
2861:
2694:
2653:
2603:
2598:
2547:
2504:
2474:
2466:
2456:
2415:Renal glycosuria
2369:
2331:
2324:
2317:
2308:
2259:
2258:
2256:
2254:
2239:
2233:
2232:
2230:
2228:
2213:
2207:
2206:
2188:
2170:
2145:
2139:
2138:
2113:(9227): 397–98.
2102:
2096:
2095:
2085:
2053:
2047:
2046:
2036:
2004:
1998:
1987:
1981:
1980:
1968:
1962:
1961:
1951:
1941:
1917:
1911:
1910:
1892:
1868:
1862:
1861:
1851:
1827:
1821:
1820:
1791:
1782:
1781:
1771:
1747:
1741:
1740:
1704:
1698:
1697:
1687:
1654:
1648:
1647:
1610:
1604:
1603:
1601:
1599:
1585:
1579:
1578:
1576:
1574:
1559:
1553:
1552:
1550:
1548:
1533:
1527:
1526:
1519:
1513:
1512:
1510:
1508:
1486:
1480:
1479:
1477:
1475:
1457:
1451:
1450:
1448:
1446:
1435:
1429:
1423:
1422:
1418:
1416:
1414:
1395:
1389:
1388:
1386:
1384:
1379:on July 28, 2021
1362:
1356:
1355:
1353:
1351:
1336:
1330:
1329:
1327:
1325:
1319:
1313:. Archived from
1312:
1304:
1298:
1297:
1295:
1293:
1276:
1270:
1269:
1267:
1265:
1251:
1236:
1235:
1233:
1231:
1222:. Archived from
1210:
1204:
1203:
1201:
1199:
1181:
1175:
1174:
1172:
1170:
1165:on June 23, 2012
1155:
1144:
1143:
1141:
1139:
1127:
1121:
1120:
1110:
1078:
1072:
1071:
1061:
1029:
1023:
1022:
1012:
1002:
978:
972:
960:
638:Electromyography
600:echocardiography
341:skeletal muscles
296:
295:
272:
271:
268:
267:
264:
261:
258:
255:
252:
228:
208:
198:
197:
189:
186:
180:
178:
137:
106:
105:
98:
91:
84:
80:
77:
71:
66:this article by
57:inline citations
44:
43:
36:
21:
3052:
3051:
3047:
3046:
3045:
3043:
3042:
3041:
3007:
3006:
3005:
3000:
2999:
2940:
2939:
2872:
2858:
2853:
2814:
2776:
2753:Gluconeogenesis
2747:
2671:
2644:
2639:
2602:Extralysosomal:
2601:
2587:
2524:
2520:GALE deficiency
2516:GALT deficiency
2511:GALK deficiency
2495:
2490:
2469:
2437:
2426:De Vivo Disease
2391:
2365:(extracellular)
2364:
2355:
2349:
2335:
2267:
2262:
2252:
2250:
2241:
2240:
2236:
2226:
2224:
2215:
2214:
2210:
2147:
2146:
2142:
2104:
2103:
2099:
2074:10.1172/JCI1722
2062:J. Clin. Invest
2055:
2054:
2050:
2013:J. Clin. Invest
2006:
2005:
2001:
1988:
1984:
1970:
1969:
1965:
1919:
1918:
1914:
1870:
1869:
1865:
1829:
1828:
1824:
1793:
1792:
1785:
1762:(6): e1116–25.
1749:
1748:
1744:
1706:
1705:
1701:
1656:
1655:
1651:
1612:
1611:
1607:
1597:
1595:
1587:
1586:
1582:
1572:
1570:
1561:
1560:
1556:
1546:
1544:
1535:
1534:
1530:
1521:
1520:
1516:
1506:
1504:
1488:
1487:
1483:
1473:
1471:
1470:. July 20, 2021
1459:
1458:
1454:
1444:
1442:
1437:
1436:
1432:
1420:
1412:
1410:
1397:
1396:
1392:
1382:
1380:
1364:
1363:
1359:
1349:
1347:
1338:
1337:
1333:
1323:
1321:
1317:
1310:
1306:
1305:
1301:
1291:
1289:
1278:
1277:
1273:
1263:
1261:
1253:
1252:
1239:
1229:
1227:
1226:on May 19, 2006
1212:
1211:
1207:
1197:
1195:
1183:
1182:
1178:
1168:
1166:
1157:
1156:
1147:
1137:
1135:
1129:
1128:
1124:
1080:
1079:
1075:
1031:
1030:
1026:
980:
979:
975:
961:
957:
953:
915:
862:Duke University
858:Yuan-Tsong Chen
856:Later in 1998,
815:
780:
766:) and Opfolda (
715:priority review
703:Duke University
683:
662:
611:creatine kinase
592:
471:
444:
442:Late onset form
385:
380:
372:
290:
276:
249:
245:
206:
199:
195:
190:
184:
181:
138:
127:
123:primary sources
107:
103:
92:
81:
75:
72:
62:Please help to
61:
45:
41:
32:
23:
22:
15:
12:
11:
5:
3050:
3048:
3040:
3039:
3034:
3029:
3024:
3019:
3009:
3008:
3002:
3001:
2998:
2997:
2986:
2975:
2964:
2949:
2948:
2946:
2942:
2941:
2938:
2937:
2926:
2915:
2904:
2889:
2873:
2868:
2867:
2865:
2864:Classification
2855:
2854:
2852:
2851:
2840:
2835:
2834:
2833:
2822:
2820:
2816:
2815:
2813:
2812:
2807:
2801:
2796:
2790:
2788:
2782:
2781:
2778:
2777:
2775:
2774:
2768:
2763:
2757:
2755:
2749:
2748:
2746:
2745:
2739:
2736:
2733:
2728:
2723:
2718:
2712:
2702:
2700:
2691:
2681:
2680:
2677:
2676:
2673:
2672:
2670:
2669:
2663:
2656:
2654:
2641:
2640:
2638:
2637:
2631:
2625:
2619:
2613:
2606:
2604:
2595:
2593:Glycogenolysis
2589:
2588:
2586:
2585:
2579:
2577:Lafora disease
2574:
2568:
2562:
2555:
2553:
2544:
2534:
2533:
2530:
2529:
2526:
2525:
2523:
2522:
2513:
2507:
2505:
2492:
2491:
2489:
2488:
2483:
2477:
2475:
2463:
2460:Monosaccharide
2453:
2443:
2442:
2439:
2438:
2436:
2435:
2429:
2423:
2418:
2408:
2402:
2400:
2397:Monosaccharide
2393:
2392:
2390:
2389:
2384:
2378:
2376:
2366:
2357:
2356:
2346:monosaccharide
2336:
2334:
2333:
2326:
2319:
2311:
2305:
2304:
2298:
2292:
2286:
2280:
2274:
2266:
2265:External links
2263:
2261:
2260:
2234:
2208:
2140:
2097:
2048:
1999:
1982:
1963:
1912:
1863:
1822:
1783:
1742:
1699:
1649:
1622:: 174–180.e1.
1605:
1580:
1554:
1528:
1514:
1481:
1452:
1430:
1390:
1357:
1331:
1299:
1271:
1237:
1205:
1176:
1145:
1122:
1073:
1024:
973:
954:
952:
949:
948:
947:
942:
937:
932:
926:
921:
914:
911:
814:
811:
779:
776:
682:
679:
661:
660:Classification
658:
591:
588:
470:
467:
443:
440:
393:cardiomyopathy
384:
381:
379:
376:
371:
368:
349:nervous system
308:, also called
298:
297:
284:
278:
277:
275:
274:
241:
239:
235:
234:
230:
229:
221:
220:
217:
213:
212:
204:
201:
200:
193:
191:
110:
108:
101:
94:
93:
48:
46:
39:
24:
14:
13:
10:
9:
6:
4:
3:
2:
3049:
3038:
3037:Rare diseases
3035:
3033:
3030:
3028:
3025:
3023:
3020:
3018:
3015:
3014:
3012:
2996:
2992:
2991:
2987:
2985:
2981:
2980:
2976:
2974:
2970:
2969:
2965:
2963:
2960:
2956:
2955:
2951:
2950:
2947:
2943:
2936:
2932:
2931:
2927:
2925:
2921:
2920:
2916:
2914:
2910:
2909:
2905:
2903:
2899:
2898:
2894:
2890:
2888:
2884:
2883:
2879:
2875:
2874:
2871:
2866:
2862:
2849:
2845:
2841:
2839:
2836:
2832:
2829:
2828:
2827:
2826:Hyperoxaluria
2824:
2823:
2821:
2817:
2811:
2808:
2805:
2802:
2800:
2797:
2795:
2792:
2791:
2789:
2787:
2783:
2772:
2769:
2767:
2764:
2762:
2759:
2758:
2756:
2754:
2750:
2743:
2740:
2737:
2734:
2732:
2729:
2727:
2724:
2722:
2719:
2716:
2713:
2711:
2707:
2704:
2703:
2701:
2699:
2695:
2692:
2690:
2686:
2682:
2667:
2666:Danon disease
2664:
2661:
2658:
2657:
2655:
2651:
2647:
2642:
2635:
2632:
2629:
2626:
2623:
2620:
2617:
2614:
2611:
2608:
2607:
2605:
2599:
2596:
2594:
2590:
2583:
2580:
2578:
2575:
2572:
2569:
2566:
2563:
2560:
2557:
2556:
2554:
2552:
2548:
2545:
2543:
2539:
2535:
2521:
2517:
2514:
2512:
2509:
2508:
2506:
2502:
2498:
2493:
2487:
2484:
2482:
2479:
2478:
2476:
2472:
2467:
2464:
2461:
2457:
2454:
2452:
2448:
2444:
2433:
2430:
2427:
2424:
2422:
2419:
2416:
2412:
2409:
2407:
2404:
2403:
2401:
2398:
2394:
2388:
2385:
2383:
2380:
2379:
2377:
2374:
2370:
2367:
2362:
2358:
2353:
2347:
2343:
2339:
2332:
2327:
2325:
2320:
2318:
2313:
2312:
2309:
2302:
2299:
2296:
2293:
2290:
2287:
2284:
2281:
2278:
2275:
2272:
2269:
2268:
2264:
2249:
2245:
2238:
2235:
2222:
2218:
2212:
2209:
2204:
2200:
2196:
2192:
2187:
2182:
2178:
2174:
2169:
2164:
2160:
2156:
2152:
2144:
2141:
2136:
2132:
2128:
2124:
2120:
2116:
2112:
2108:
2101:
2098:
2093:
2089:
2084:
2079:
2075:
2071:
2068:(4): 827–33.
2067:
2063:
2059:
2052:
2049:
2044:
2040:
2035:
2030:
2026:
2022:
2019:(2): 513–18.
2018:
2014:
2010:
2003:
2000:
1997:
1993:
1992:
1986:
1983:
1978:
1974:
1967:
1964:
1959:
1955:
1950:
1945:
1940:
1935:
1931:
1927:
1923:
1916:
1913:
1908:
1904:
1900:
1896:
1891:
1886:
1882:
1878:
1874:
1867:
1864:
1859:
1855:
1850:
1845:
1842:(2): 194–95.
1841:
1837:
1833:
1826:
1823:
1818:
1814:
1810:
1806:
1803:(2): 132–38.
1802:
1798:
1790:
1788:
1784:
1779:
1775:
1770:
1765:
1761:
1757:
1753:
1746:
1743:
1738:
1734:
1730:
1726:
1722:
1718:
1714:
1710:
1703:
1700:
1695:
1691:
1686:
1681:
1677:
1673:
1669:
1665:
1661:
1653:
1650:
1645:
1641:
1637:
1633:
1629:
1625:
1621:
1617:
1609:
1606:
1598:September 29,
1594:
1590:
1584:
1581:
1573:September 29,
1568:
1564:
1558:
1555:
1547:September 29,
1543:
1539:
1532:
1529:
1524:
1518:
1515:
1502:
1498:
1496:
1491:
1485:
1482:
1469:
1467:
1462:
1456:
1453:
1440:
1434:
1431:
1427:
1426:public domain
1408:
1406:
1400:
1394:
1391:
1378:
1374:
1372:
1367:
1361:
1358:
1345:
1341:
1335:
1332:
1316:
1309:
1303:
1300:
1288:
1287:
1282:
1275:
1272:
1260:
1256:
1250:
1248:
1246:
1244:
1242:
1238:
1225:
1221:
1220:
1215:
1209:
1206:
1194:
1192:
1186:
1180:
1177:
1164:
1160:
1154:
1152:
1150:
1146:
1133:
1126:
1123:
1118:
1114:
1109:
1104:
1100:
1096:
1092:
1088:
1084:
1077:
1074:
1069:
1065:
1060:
1055:
1051:
1047:
1044:(9): 800–10.
1043:
1039:
1035:
1028:
1025:
1020:
1016:
1011:
1006:
1001:
996:
992:
988:
984:
977:
974:
970:
966:
965:
964:Pompe disease
959:
956:
950:
946:
943:
941:
938:
936:
933:
930:
929:Danon disease
927:
925:
922:
920:
917:
916:
912:
910:
906:
904:
899:
897:
896:
890:
886:
882:
879:
878:Henri Termeer
873:
871:
865:
863:
859:
854:
852:
848:
847:Arnold Reuser
842:
840:
835:
834:Henri G. Hers
831:
827:
822:
820:
812:
810:
806:
802:
798:
794:
792:
788:
784:
777:
775:
773:
769:
765:
760:
758:
753:
751:
747:
742:
740:
735:
730:
727:
726:Health Canada
722:
718:
716:
712:
708:
704:
700:
696:
692:
687:
680:
678:
674:
670:
667:
659:
657:
655:
651:
647:
642:
639:
634:
632:
628:
624:
620:
616:
612:
609:
605:
601:
597:
589:
587:
585:
584:
580:
575:
573:
569:
565:
561:
557:
553:
549:
545:
541:
537:
532:
530:
526:
521:
519:
515:
511:
507:
502:
499:
498:chromosome 17
495:
491:
486:
484:
475:
468:
466:
463:
459:
457:
453:
448:
441:
439:
435:
433:
429:
425:
421:
417:
412:
410:
409:immunotherapy
406:
402:
398:
394:
390:
382:
377:
375:
369:
367:
365:
361:
358:are the only
357:
356:Danon disease
352:
350:
346:
342:
338:
334:
330:
326:
322:
319:
315:
311:
310:Pompe disease
307:
304:
294:
288:
287:Endocrinology
285:
283:
279:
270:
243:
242:
240:
238:Pronunciation
236:
231:
227:
222:
218:
214:
209:
192:
188:
185:February 2023
177:
174:
170:
167:
163:
160:
156:
153:
149:
146: –
145:
141:
140:Find sources:
135:
131:
125:
124:
120:
116:
111:This article
109:
100:
99:
90:
87:
79:
69:
65:
59:
58:
52:
47:
38:
37:
34:
30:
29:Danon disease
19:
2988:
2977:
2966:
2952:
2928:
2917:
2906:
2891:
2876:
2846:deficiency,
2715:GSD type VII
2659:
2610:GSD type III
2551:Glycogenesis
2501:galactosemia
2373:Disaccharide
2338:Inborn error
2253:November 26,
2251:. Retrieved
2247:
2237:
2227:November 10,
2225:. Retrieved
2220:
2211:
2158:
2154:
2143:
2110:
2106:
2100:
2065:
2061:
2051:
2016:
2012:
2002:
1989:
1985:
1976:
1972:
1966:
1929:
1925:
1915:
1880:
1877:N Engl J Med
1876:
1866:
1839:
1836:N Engl J Med
1835:
1825:
1800:
1796:
1759:
1755:
1745:
1715:(2): 88–89.
1712:
1708:
1702:
1667:
1663:
1652:
1619:
1615:
1608:
1596:. Retrieved
1592:
1583:
1571:. Retrieved
1566:
1557:
1545:. Retrieved
1541:
1531:
1517:
1507:December 18,
1505:. Retrieved
1501:the original
1493:
1484:
1474:December 18,
1472:. Retrieved
1464:
1455:
1443:. Retrieved
1433:
1411:. Retrieved
1402:
1393:
1381:. Retrieved
1377:the original
1369:
1360:
1348:. Retrieved
1343:
1334:
1322:. Retrieved
1315:the original
1302:
1292:December 18,
1290:. Retrieved
1284:
1274:
1264:December 18,
1262:. Retrieved
1258:
1230:December 16,
1228:. Retrieved
1224:the original
1217:
1208:
1198:December 18,
1196:. Retrieved
1188:
1179:
1167:. Retrieved
1163:the original
1136:. Retrieved
1125:
1093:(1): 40–49.
1090:
1086:
1076:
1041:
1037:
1027:
990:
986:
976:
962:
958:
907:
903:gene therapy
900:
893:
889:John Crowley
887:
883:
874:
866:
855:
843:
823:
816:
807:
803:
799:
795:
785:
781:
761:
754:
743:
731:
723:
719:
688:
684:
675:
671:
663:
643:
635:
593:
581:
576:
533:
529:RNA splicing
525:transversion
522:
503:
487:
480:
464:
460:
449:
445:
436:
428:cardiomegaly
424:macroglossia
420:hepatomegaly
413:
397:cardiomegaly
386:
373:
370:Epidemiology
353:
309:
305:
302:
301:
182:
172:
165:
158:
151:
139:
119:verification
112:
82:
76:January 2021
73:
54:
33:
2979:GeneReviews
2628:GSD type IX
2616:GSD type VI
2582:GSD type XV
2565:GSD type IV
2363:, transport
1593:www.sec.gov
1538:"Pombiliti"
830:Nobel Prize
711:orphan drug
631:fibroblasts
432:arrhythmias
416:floppy baby
354:GSD-II and
216:Other names
113:needs more
68:introducing
3022:Hepatology
3011:Categories
2968:Patient UK
2930:DiseasesDB
2838:Pentosuria
2771:GSD type I
2698:Glycolysis
2622:GSD type V
2559:GSD type 0
2462:catabolism
2375:catabolism
2350:Including
1932:: 741087.
1756:Pediatrics
1670:: 98–105.
1350:August 14,
951:References
739:bioreactor
697:(BLA) for
604:conduction
572:organelles
556:isomaltose
518:GC content
316:2V, is an
155:newspapers
51:references
2954:eMedicine
2646:Lysosomal
2497:Galactose
2399:transport
2203:253444841
2177:0028-4793
1996:eMedicine
1979:: 304–12.
1709:Neurology
1445:August 6,
1413:August 6,
1038:Genet Med
778:Prognosis
768:miglustat
681:Treatment
590:Diagnosis
568:cytoplasm
564:lysosomes
540:hydrolase
456:hypotonia
401:hypotonia
282:Specialty
2990:Orphanet
2962:ped/1866
2542:glycogen
2471:Fructose
2195:36351280
2186:10794051
2135:54268990
2127:10972374
1958:19710926
1899:20393176
1858:19129538
1817:11286229
1778:19948615
1737:42540784
1729:17210887
1694:27896132
1636:26685070
1383:July 27,
1344:DailyMed
1324:June 23,
1259:DailyMed
1117:22252923
1068:22538254
1019:38274468
1010:10810242
913:See also
734:Lumizyme
641:sample.
615:aldolase
579:nematode
560:glycogen
548:glycogen
483:autosome
347:and the
329:lysosome
325:glycogen
306:(GSD-II)
2959:med/908
2924:D006009
2685:Glucose
2538:Glucose
2451:glucose
2361:Sucrose
2283:AGSD-UK
2221:CTVNews
2092:9466978
2043:1991835
1949:2729289
1907:5216178
1685:5121151
1644:4504302
1169:May 22,
1138:May 17,
1108:3278076
1059:3947503
813:History
787:Myozyme
646:DACHDNC
552:maltose
327:in the
169:scholar
134:removed
64:improve
2913:232300
2848:PRKAG2
2706:MODY 2
2573:(APBD)
2447:Hexose
2301:IamGSD
2201:
2193:
2183:
2175:
2133:
2125:
2107:Lancet
2090:
2083:508631
2080:
2041:
2034:296338
2031:
1956:
1946:
1905:
1897:
1856:
1815:
1776:
1735:
1727:
1692:
1682:
1642:
1634:
1115:
1105:
1066:
1056:
1017:
1007:
544:enzyme
516:. The
289:
273:
244:Pompe
171:
164:
157:
150:
142:
53:, but
2902:271.0
2887:E74.0
2819:Other
2804:SDDHD
2354:(GSD)
2199:S2CID
2131:S2CID
1903:S2CID
1733:S2CID
1640:S2CID
1497:(EMA)
1468:(EMA)
1407:(FDA)
1403:U.S.
1373:(EMA)
1318:(PDF)
1311:(PDF)
1193:(FDA)
1189:U.S.
608:serum
506:exons
469:Cause
452:cough
345:liver
337:heart
176:JSTOR
162:books
2935:5296
2919:MeSH
2908:OMIM
2897:9-CM
2710:HHF3
2289:AMDA
2277:AGSD
2255:2023
2229:2022
2191:PMID
2173:ISSN
2123:PMID
2088:PMID
2039:PMID
1954:PMID
1930:2009
1895:PMID
1854:PMID
1813:PMID
1774:PMID
1725:PMID
1690:PMID
1632:PMID
1600:2023
1575:2023
1549:2023
1509:2022
1476:2022
1447:2021
1415:2021
1385:2021
1352:2020
1326:2007
1294:2022
1266:2022
1232:2009
1200:2022
1171:2012
1140:2013
1113:PMID
1091:160C
1064:PMID
1015:PMID
849:and
654:RUSP
625:and
598:and
566:and
554:and
490:gene
148:news
117:for
2995:365
2893:ICD
2878:ICD
2689:CAC
2650:LSD
2340:of
2295:IPA
2181:PMC
2163:doi
2159:387
2115:doi
2111:356
2078:PMC
2070:doi
2066:101
2029:PMC
2021:doi
1994:at
1944:PMC
1934:doi
1885:doi
1881:362
1844:doi
1840:360
1805:doi
1764:doi
1760:124
1717:doi
1680:PMC
1672:doi
1624:doi
1620:169
1103:PMC
1095:doi
1054:PMC
1046:doi
1005:PMC
995:doi
969:NLM
967:at
430:),
3013::
2993::
2982::
2971::
2957::
2933::
2922::
2911::
2900::
2885::
2882:10
2687:⇄
2652:):
2540:⇄
2499:/
2449:→
2344::
2246:.
2219:.
2197:.
2189:.
2179:.
2171:.
2157:.
2153:.
2129:.
2121:.
2109:.
2086:.
2076:.
2064:.
2060:.
2037:.
2027:.
2017:87
2015:.
2011:.
1977:76
1975:.
1952:.
1942:.
1928:.
1924:.
1901:.
1893:.
1879:.
1875:.
1852:.
1838:.
1834:.
1811:.
1799:.
1786:^
1772:.
1758:.
1754:.
1731:.
1723:.
1713:68
1711:.
1688:.
1678:.
1666:.
1662:.
1638:.
1630:.
1618:.
1591:.
1565:.
1540:.
1492:.
1463:.
1401:.
1368:.
1342:.
1283:.
1257:.
1240:^
1216:.
1187:.
1148:^
1111:.
1101:.
1089:.
1085:.
1062:.
1052:.
1042:14
1040:.
1036:.
1013:.
1003:.
993:.
991:11
989:.
985:.
774:.
717:.
621:,
617:,
586:.
550:,
531:.
510:bp
399:,
395:,
351:.
343:,
339:,
136:.
2895:-
2880:-
2870:D
2850:)
2708:/
2648:(
2518:/
2503::
2473::
2417:)
2413:(
2330:e
2323:t
2316:v
2257:.
2231:.
2205:.
2165::
2137:.
2117::
2094:.
2072::
2045:.
2023::
1960:.
1936::
1909:.
1887::
1860:.
1846::
1819:.
1807::
1801:3
1780:.
1766::
1739:.
1719::
1696:.
1674::
1668:9
1646:.
1626::
1602:.
1577:.
1551:.
1525:.
1511:.
1478:.
1428:.
1417:.
1387:.
1354:.
1328:.
1296:.
1268:.
1234:.
1202:.
1173:.
1142:.
1119:.
1097::
1070:.
1048::
1021:.
997::
492:(
269:/
266:ə
263:p
260:m
257:ɒ
254:p
251:ˈ
248:/
187:)
183:(
173:·
166:·
159:·
152:·
126:.
89:)
83:(
78:)
74:(
60:.
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
