47:
212:
Testing
Resources The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider
208:
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person's medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and
93:
Heart disease (cardiomyopathy) can be severe and can lead to a need for medications. It usually progresses to heart failure, commonly complicated by atrial fibrillation and embolic strokes with severe neurological disability, leading to death unless heart transplant is
221:
RP-A501 is an AAV-based gene therapy aimed to restore the LAMP-2 gene which is defective in male patients with Danon
Disease and how to cure it. Cardiac transplantation has been performed as a treatment; however, most patients die early in life.
711:
499:"A Clinical Study Evaluating a Recombinant Adeno-Associated Virus Serotype 9 (RAAV9) Capsid Containing the Human Lysosome-Associated Membrane Protein 2 Isoform B (LAMP2B) Transgene (RP-A501; AAV9.LAMP2B) in Male Patients with DD"
256:. Microscopically, muscles from Danon disease patients appear similar to muscles from Pompe disease patients. However, intellectual disability is rarely, if ever, a symptom of Pompe disease. Negative enzymatic or molecular
800:
230:
Danon disease was characterized by Moris Danon in 1981. Dr. Danon first described the disease in 2 boys with heart and skeletal muscle disease (muscle weakness), and intellectual disability.
793:
987:
404:
Lobrinus JA, Schorderet DF, Payot M, et al. (April 2005). "Morphological, clinical and genetic aspects in a family with a novel LAMP-2 gene mutation (Danon disease)".
1586:
786:
778:
159:
Danon
Disease is rare and unfamiliar to most physicians. The milder and more subtle symptoms in females can make it more difficult to diagnose females with Danon Disease
1971:
2106:
1642:
1506:
168:
Although the genetic cause of Danon disease is known, the mechanism of disease is not well understood. Danon disease involves a genetic defect (mutation) in a
1542:
1353:
1265:
1281:
447:
Nishino I, Fu J, Tanji K, et al. (August 2000). "Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)".
143:
is often absent in childhood. Some women will develop this in adulthood. Cardiomyopathy can be associated with atrial fibrillation and embolic strokes.
1402:
882:
813:
285:
114:
Danon
Disease is rare and unfamiliar to most physicians. It can be mistaken for other forms of heart disease and/or muscular dystrophies, including
1849:
1697:
147:
98:
1731:
1768:
1844:
1511:
1487:
233:
The first case of Danon disease reported in the Middle East was a family diagnosed in the eastern region of United Arab
Emirates with a new
2042:
2021:
1687:
1422:
1192:
1964:
1949:
726:
2126:
1477:
1237:
1763:
2052:
1721:
1547:
1081:
1692:
1627:
1346:
1131:
1099:
1087:
1036:
279:
253:
1854:
1473:
1242:
1232:
1093:
1042:
1030:
957:
877:
1993:
1957:
1796:
1376:
1186:
991:
209:
testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
2102:
2006:
1878:
1392:
1181:
1397:
245:, Italy, where 6 males were diagnosed as Danon disease patients and 5 female were diagnosed as carriers; as published in
180:
gene is not well understood, it is known that LAMP2 protein is primarily located in small structures within cells called
2131:
2047:
1315:
269:
573:
Danon MJ, Oh SJ, DiMauro S, et al. (January 1981). "Lysosomal glycogen storage disease with normal acid maltase".
131:
A later age of onset of symptoms. Many females will not have obvious symptoms until late adolescence or even adulthood.
1934:
1859:
1753:
1407:
1339:
213:
or a genetics professional. Orphanet lists international laboratories offering diagnostic testing for this condition.
64:
30:
Lysosomal glycogen storage disease with normal acid maltase activity, formerly GSD-IIb, GSD due to LAMP-2 deficiency
1929:
1516:
1197:
809:
1632:
1889:
1749:
1412:
1257:
1121:
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1924:
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mutation; discovered by the
Egyptian cardiologist Dr. Mahmoud Ramadan the associate professor of Cardiology in
63:) is a metabolic disorder. Danon disease is an X-linked lysosomal and glycogen storage disorder associated with
2011:
1270:
982:
823:
737:
274:
197:
649:
249:
newspaper on 20 February 2016 making this family the largest one with patients and carriers of Danon disease.
1894:
1818:
1608:
1537:
903:
127:
In females the symptoms of Danon disease are less severe. Common symptoms of Danon disease in females are:
2136:
1909:
1758:
1716:
1666:
1618:
1560:
892:
766:
67:, skeletal muscle weakness, and intellectual disability. It is inherited in an X-linked dominant pattern.
1741:
1573:
1302:
1202:
952:
2073:
1984:
1529:
1455:
1427:
456:
390:
Spinazzi M, Fanin M, Melacini P, Nascimbeni AC, Angelini C. "Cardioembolic stroke in Danon disease"
46:
1726:
1437:
858:
853:
238:
2001:
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1599:
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295:
80:
In males the symptoms of Danon disease are more severe. Features of Danon disease in males are:
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1160:
590:
555:
537:
472:
421:
373:
84:
An early age of onset of muscle weakness and heart disease (onset in childhood or adolescence)
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1980:
1904:
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886:
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529:
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363:
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1662:
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257:
460:
2057:
2016:
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1707:
1672:
1604:
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1048:
931:
868:
817:
616:
550:
517:
368:
343:
176:, which results in a change to the normal protein structure. While the function of the
140:
137:
Muscle weakness is often absent or subtle. Some females will tire easily with exercise
2120:
1914:
1677:
1637:
1565:
1450:
1445:
1417:
1297:
1275:
516:
Bejar, David; Colombo, Paolo C; Latif, Farhana; Yuzefpolskaya, Melana (8 July 2015).
115:
40:
602:
433:
1524:
1022:
972:
844:
484:
498:
252:
Danon disease has overlapping symptoms with another rare genetic condition called
742:
1362:
260:
for Pompe disease can help rule out this disorder as a differential diagnosis.
156:
Some females may have visual disturbances, and/or retinal pigment abnormalities
2037:
1309:
1169:
720:
417:
90:
Muscle weakness can be severe and can affect endurance and the ability to walk
541:
968:
181:
559:
476:
425:
377:
594:
359:
1117:
1013:
942:
761:
703:
586:
1156:
1009:
922:
832:
533:
242:
1331:
1319:
1177:
918:
715:
468:
108:
344:"Clinical Outcome and Phenotypic Expression in LAMP2 Cardiomyopathy"
241:(Egypt) after doing genetic analysis for all the family members in
1810:
193:
173:
134:
Learning problems and intellectual disability are usually absent.
1806:
1647:
1213:
731:
318:
169:
87:
Some learning problems or intellectual disability can be present
1953:
1876:
1374:
1335:
782:
685:- International Association for Muscle Glycogen Storage Disease
673:- Association of Glycogen Storage Disease in the United States
634:
1134:(Pompe's disease, glucosidase deficiency, formerly GSD-IIa)
682:
670:
1245:(von Gierke's disease, glucose 6-phosphatase deficiency)
1090:(Hers' disease, liver glycogen phosphorylase deficiency)
342:
Maron BJ, Roberts WC, Arad M, et al. (March 2009).
676:
153:
Symptoms in females progress more slowly than in males.
107:
Some individuals may have visual disturbances, and/or
1314:
Fatal congenital nonlysosomal cardiac glycogenosis (
693:
2082:
2066:
2030:
1992:
1827:
1805:
1777:
1740:
1706:
1617:
1496:
1464:
1436:
1383:
1290:
1256:
1223:
1168:
1155:
1115:
1072:
1063:
1021:
1008:
966:
940:
930:
917:
867:
843:
831:
752:
697:
679:- Association of Glycogen Storage Disease in the UK
34:
26:
21:
1189:(Tarui's disease, phosphofructokinase deficiency)
1039:(Andersen's disease, branching enzyme deficiency)
1096:(McArdle's disease, myophosphorylase deficiency)
150:is a common conduction pattern in Danon disease.
101:is a common conduction pattern in Danon disease.
1553:Danon disease/glycogen storage disease Type IIb
1084:(Cori's disease, debranching enzyme deficiency)
1965:
1658:Color blindness (red and green, but not blue)
1643:Alpha-thalassemia mental retardation syndrome
1347:
794:
8:
1543:Glucose-6-phosphate dehydrogenase deficiency
1266:Glucose-6-phosphate dehydrogenase deficiency
146:Cardiac conduction abnormalities can occur.
97:Cardiac conduction abnormalities can occur.
1282:6-phosphogluconate dehydrogenase deficiency
1972:
1958:
1950:
1873:
1371:
1354:
1340:
1332:
1165:
1069:
1018:
937:
927:
840:
801:
787:
779:
694:
104:Symptoms are usually gradually progressive
45:
18:
1403:X-linked severe combined immunodeficiency
1214:Mitochondrial pyruvate carrier deficiency
549:
367:
883:Inborn errors of renal tubular transport
286:Inborn errors of carbohydrate metabolism
1797:X-linked nephrogenic diabetes insipidus
1722:Hypohidrotic ectodermal dysplasia (EDA)
319:"OMIM Entry - # 300257 - DANON DISEASE"
307:
1732:X-linked endothelial corneal dystrophy
648:ۧÙÙŰŹÙ۱۩ - ۧۚŰȘ۳ۧÙ
ۧÙێۧŰč۱ (2016-02-19).
522:Clinical Medicine Insights. Cardiology
1688:CharcotâMarieâTooth disease (CMTX2-3)
1512:Ornithine transcarbamylase deficiency
1488:X-linked adrenal hypoplasia congenita
650:""ۯۧÙÙÙ" Ù
۱۶ Ùۧۯ۱ ÙŰ”ÙŰš ۧÙÙÙŰš ۚۧÙŰȘ۶۟Ù
"
7:
1423:X-linked lymphoproliferative disease
1393:Chronic granulomatous disease (CYBB)
1193:Triosephosphate isomerase deficiency
1140:(LAMP2 deficiency, formerly GSD-IIb)
313:
311:
196:. The status of this condition as a
1769:EmeryâDreifuss muscular dystrophy 1
1207:Phosphoglucose isomerase deficiency
1108:(PGM1-CDG, CDG1T, formerly GSD-XIV)
1987:and lysosomal structural disorders
1478:Spinal and bulbar muscular atrophy
1238:Fructose bisphosphatase deficiency
1210:Phosphoglycerate kinase deficiency
14:
2053:D-bifunctional protein deficiency
1548:Pyruvate dehydrogenase deficiency
1102:(phosphorylase kinase deficiency)
282:(Pompe disease, formerly GSD-IIa)
61:glycogen storage disease Type IIb
1628:X-linked intellectual disability
1132:Glycogen storage disease type II
1474:Androgen insensitivity syndrome
1233:Pyruvate carboxylase deficiency
1043:Adult polyglucosan body disease
878:Glucose-galactose malabsorption
518:"Infiltrative Cardiomyopathies"
1994:Peroxisome biogenesis disorder
1850:SimpsonâGolabiâBehmel syndrome
1033:(glycogen synthase deficiency)
148:WolffâParkinsonâWhite syndrome
99:WolffâParkinsonâWhite syndrome
1:
2074:X-linked adrenoleukodystrophy
2007:Neonatal adrenoleukodystrophy
1819:AMELX Amelogenesis imperfecta
1759:Centronuclear myopathy (MTM1)
1456:X-linked sideroblastic anemia
1106:Phosphoglucomutase deficiency
2048:Mevalonate kinase deficiency
1845:SmithâFinemanâMyers syndrome
1693:PelizaeusâMerzbacher disease
1587:Purineâpyrimidine metabolism
1316:AMP-activated protein kinase
635:"Mansoura University, Egypt"
270:Autophagic vacuolar myopathy
1935:Craniofrontonasal dysplasia
1860:Nasodigitoacoustic syndrome
1408:X-linked agammaglobulinemia
65:hypertrophic cardiomyopathy
2153:
1930:Orofaciodigital syndrome 1
1764:ConradiâHĂŒnermann syndrome
1517:Oculocerebrorenal syndrome
1278:(Transketolase deficiency)
1198:Pyruvate kinase deficiency
2127:Defects of cell structure
2098:
1890:X-linked hypophosphatemia
1885:
1872:
1750:Becker muscular dystrophy
1413:Hyper-IgM syndrome type 1
1370:
1258:Pentose phosphate pathway
824:glycogen storage diseases
418:10.1016/j.nmd.2004.12.007
291:Lysosomal storage disease
2012:Infantile Refsum disease
1855:MohrâTranebjĂŠrg syndrome
1398:WiskottâAldrich syndrome
1271:Transaldolase deficiency
275:Glycogen storage disease
1895:Focal dermal hypoplasia
1609:Occipital horn syndrome
1538:Carbohydrate metabolism
1056:(glycogenin deficiency)
904:Fanconi-Bickel syndrome
814:carbohydrate metabolism
406:Neuromuscular Disorders
2058:Adult Refsum disease-1
2017:Adult Refsum disease-2
1910:Incontinentia pigmenti
1717:Dyskeratosis congenita
1561:Lipid storage disorder
1483:KAL1 Kallmann syndrome
893:Fructose malabsorption
192:It is associated with
1985:Peroxisomal disorders
1633:CoffinâLowry syndrome
1574:Mucopolysaccharidosis
1303:Primary hyperoxaluria
1203:Aldolase A deficiency
953:Essential fructosuria
820:metabolism disorders
360:10.1001/jama.2009.371
111:pigment abnormalities
1925:LujanâFryns syndrome
1592:LeschâNyhan syndrome
1530:Adrenoleukodystrophy
1428:Properdin deficiency
958:Fructose intolerance
854:Congenital alactasia
296:Metabolic myopathies
2132:Metabolic disorders
2067:Transporter-related
1727:X-linked ichthyosis
859:Sucrose intolerance
587:10.1212/wnl.31.1.51
461:2000Natur.406..906N
239:Mansoura University
200:has been disputed.
2002:Zellweger syndrome
1900:Fragile X syndrome
1710:and related tissue
1377:X-linked recessive
906:(GLUT2 deficiency)
900:(GLUT1 deficiency)
753:External resources
534:10.4137/CMC.S19706
528:(Suppl 2): 29â38.
71:Symptoms and signs
2114:
2113:
1947:
1946:
1943:
1942:
1879:X-linked dominant
1868:
1867:
1828:No primary system
1329:
1328:
1252:
1251:
1216:(MPC1 deficiency)
1151:
1150:
1147:
1146:
1004:
1003:
1000:
999:
913:
912:
776:
775:
617:"Mahmoud Ramadan"
505:. 24 August 2021.
354:(12): 1253â1259.
54:
53:
16:Medical condition
2144:
1981:Genetic disorder
1974:
1967:
1960:
1951:
1905:Aicardi syndrome
1874:
1372:
1356:
1349:
1342:
1333:
1166:
1125:
1075:
1070:
1019:
976:
946:
938:
928:
887:Renal glycosuria
841:
803:
796:
789:
780:
695:
658:
657:
645:
639:
638:
631:
625:
624:
613:
607:
606:
570:
564:
563:
553:
513:
507:
506:
495:
489:
488:
469:10.1038/35022604
455:(6798): 906â10.
444:
438:
437:
401:
395:
388:
382:
381:
371:
339:
333:
332:
330:
329:
315:
50:
49:
19:
2152:
2151:
2147:
2146:
2145:
2143:
2142:
2141:
2117:
2116:
2115:
2110:
2094:
2078:
2062:
2026:
1988:
1978:
1948:
1939:
1881:
1864:
1840:McLeod syndrome
1823:
1801:
1787:Alport syndrome
1773:
1736:
1702:
1663:Ocular albinism
1613:
1579:Hunter syndrome
1492:
1460:
1432:
1379:
1366:
1360:
1330:
1325:
1286:
1248:
1225:Gluconeogenesis
1219:
1143:
1116:
1111:
1074:Extralysosomal:
1073:
1059:
996:
992:GALE deficiency
988:GALT deficiency
983:GALK deficiency
967:
962:
941:
909:
898:De Vivo Disease
863:
837:(extracellular)
836:
827:
821:
807:
777:
772:
771:
748:
747:
706:
692:
667:
662:
661:
647:
646:
642:
633:
632:
628:
615:
614:
610:
572:
571:
567:
515:
514:
510:
503:Clinical Trials
497:
496:
492:
446:
445:
441:
403:
402:
398:
394:2008;73:388-90.
389:
385:
341:
340:
336:
327:
325:
317:
316:
309:
304:
266:
258:genetic testing
254:'Pompe' disease
228:
219:
206:
190:
166:
73:
44:
17:
12:
11:
5:
2150:
2148:
2140:
2139:
2134:
2129:
2119:
2118:
2112:
2111:
2099:
2096:
2095:
2093:
2092:
2086:
2084:
2080:
2079:
2077:
2076:
2070:
2068:
2064:
2063:
2061:
2060:
2055:
2050:
2045:
2040:
2034:
2032:
2031:Enzyme-related
2028:
2027:
2025:
2024:
2019:
2014:
2009:
2004:
1998:
1996:
1990:
1989:
1979:
1977:
1976:
1969:
1962:
1954:
1945:
1944:
1941:
1940:
1938:
1937:
1932:
1927:
1922:
1920:CHILD syndrome
1917:
1912:
1907:
1902:
1897:
1892:
1886:
1883:
1882:
1877:
1870:
1869:
1866:
1865:
1863:
1862:
1857:
1852:
1847:
1842:
1837:
1835:Barth syndrome
1831:
1829:
1825:
1824:
1822:
1821:
1815:
1813:
1803:
1802:
1800:
1799:
1794:
1792:Dent's disease
1789:
1783:
1781:
1775:
1774:
1772:
1771:
1766:
1761:
1756:
1746:
1744:
1738:
1737:
1735:
1734:
1729:
1724:
1719:
1713:
1711:
1704:
1703:
1701:
1700:
1695:
1690:
1681:
1680:
1675:
1673:Norrie disease
1670:
1660:
1655:Eye disorders:
1651:
1650:
1645:
1640:
1635:
1623:
1621:
1619:Nervous system
1615:
1614:
1612:
1611:
1605:Menkes disease
1595:
1594:
1582:
1581:
1569:
1568:
1556:
1555:
1550:
1545:
1533:
1532:
1520:
1519:
1514:
1502:
1500:
1494:
1493:
1491:
1490:
1485:
1480:
1470:
1468:
1462:
1461:
1459:
1458:
1453:
1448:
1442:
1440:
1434:
1433:
1431:
1430:
1425:
1420:
1415:
1410:
1405:
1400:
1395:
1389:
1387:
1381:
1380:
1375:
1368:
1367:
1361:
1359:
1358:
1351:
1344:
1336:
1327:
1326:
1324:
1323:
1312:
1307:
1306:
1305:
1294:
1292:
1288:
1287:
1285:
1284:
1279:
1273:
1268:
1262:
1260:
1254:
1253:
1250:
1249:
1247:
1246:
1240:
1235:
1229:
1227:
1221:
1220:
1218:
1217:
1211:
1208:
1205:
1200:
1195:
1190:
1184:
1174:
1172:
1163:
1153:
1152:
1149:
1148:
1145:
1144:
1142:
1141:
1135:
1128:
1126:
1113:
1112:
1110:
1109:
1103:
1097:
1091:
1085:
1078:
1076:
1067:
1065:Glycogenolysis
1061:
1060:
1058:
1057:
1051:
1049:Lafora disease
1046:
1040:
1034:
1027:
1025:
1016:
1006:
1005:
1002:
1001:
998:
997:
995:
994:
985:
979:
977:
964:
963:
961:
960:
955:
949:
947:
935:
932:Monosaccharide
925:
915:
914:
911:
910:
908:
907:
901:
895:
890:
880:
874:
872:
869:Monosaccharide
865:
864:
862:
861:
856:
850:
848:
838:
829:
828:
818:monosaccharide
808:
806:
805:
798:
791:
783:
774:
773:
770:
769:
757:
756:
754:
750:
749:
746:
745:
734:
723:
707:
702:
701:
699:
698:Classification
691:
690:External links
688:
687:
686:
680:
674:
666:
665:External links
663:
660:
659:
640:
626:
608:
565:
508:
490:
439:
396:
383:
334:
306:
305:
303:
300:
299:
298:
293:
288:
283:
277:
272:
265:
262:
227:
224:
218:
215:
205:
202:
189:
186:
165:
162:
161:
160:
157:
154:
151:
144:
141:Cardiomyopathy
138:
135:
132:
120:
119:
112:
105:
102:
95:
91:
88:
85:
72:
69:
52:
51:
38:
32:
31:
28:
24:
23:
15:
13:
10:
9:
6:
4:
3:
2:
2149:
2138:
2137:Rare diseases
2135:
2133:
2130:
2128:
2125:
2124:
2122:
2109:
2108:
2107:intermediates
2104:
2097:
2091:
2090:Danon disease
2088:
2087:
2085:
2081:
2075:
2072:
2071:
2069:
2065:
2059:
2056:
2054:
2051:
2049:
2046:
2044:
2041:
2039:
2036:
2035:
2033:
2029:
2023:
2020:
2018:
2015:
2013:
2010:
2008:
2005:
2003:
2000:
1999:
1997:
1995:
1991:
1986:
1983:, organelle:
1982:
1975:
1970:
1968:
1963:
1961:
1956:
1955:
1952:
1936:
1933:
1931:
1928:
1926:
1923:
1921:
1918:
1916:
1915:Rett syndrome
1913:
1911:
1908:
1906:
1903:
1901:
1898:
1896:
1893:
1891:
1888:
1887:
1884:
1880:
1875:
1871:
1861:
1858:
1856:
1853:
1851:
1848:
1846:
1843:
1841:
1838:
1836:
1833:
1832:
1830:
1826:
1820:
1817:
1816:
1814:
1812:
1808:
1804:
1798:
1795:
1793:
1790:
1788:
1785:
1784:
1782:
1780:
1776:
1770:
1767:
1765:
1762:
1760:
1757:
1755:
1751:
1748:
1747:
1745:
1743:
1742:Neuromuscular
1739:
1733:
1730:
1728:
1725:
1723:
1720:
1718:
1715:
1714:
1712:
1709:
1705:
1699:
1696:
1694:
1691:
1689:
1686:
1683:
1682:
1679:
1678:Choroideremia
1676:
1674:
1671:
1668:
1664:
1661:
1659:
1656:
1653:
1652:
1649:
1646:
1644:
1641:
1639:
1638:MASA syndrome
1636:
1634:
1631:
1629:
1625:
1624:
1622:
1620:
1616:
1610:
1606:
1603:
1601:
1597:
1596:
1593:
1590:
1588:
1584:
1583:
1580:
1577:
1575:
1571:
1570:
1567:
1566:Fabry disease
1563:
1562:
1558:
1557:
1554:
1551:
1549:
1546:
1544:
1541:
1539:
1535:
1534:
1531:
1528:
1526:
1522:
1521:
1518:
1515:
1513:
1510:
1508:
1504:
1503:
1501:
1499:
1495:
1489:
1486:
1484:
1481:
1479:
1475:
1472:
1471:
1469:
1467:
1463:
1457:
1454:
1452:
1451:Haemophilia B
1449:
1447:
1446:Haemophilia A
1444:
1443:
1441:
1439:
1435:
1429:
1426:
1424:
1421:
1419:
1416:
1414:
1411:
1409:
1406:
1404:
1401:
1399:
1396:
1394:
1391:
1390:
1388:
1386:
1382:
1378:
1373:
1369:
1364:
1357:
1352:
1350:
1345:
1343:
1338:
1337:
1334:
1321:
1317:
1313:
1311:
1308:
1304:
1301:
1300:
1299:
1298:Hyperoxaluria
1296:
1295:
1293:
1289:
1283:
1280:
1277:
1274:
1272:
1269:
1267:
1264:
1263:
1261:
1259:
1255:
1244:
1241:
1239:
1236:
1234:
1231:
1230:
1228:
1226:
1222:
1215:
1212:
1209:
1206:
1204:
1201:
1199:
1196:
1194:
1191:
1188:
1185:
1183:
1179:
1176:
1175:
1173:
1171:
1167:
1164:
1162:
1158:
1154:
1139:
1138:Danon disease
1136:
1133:
1130:
1129:
1127:
1123:
1119:
1114:
1107:
1104:
1101:
1098:
1095:
1092:
1089:
1086:
1083:
1080:
1079:
1077:
1071:
1068:
1066:
1062:
1055:
1052:
1050:
1047:
1044:
1041:
1038:
1035:
1032:
1029:
1028:
1026:
1024:
1020:
1017:
1015:
1011:
1007:
993:
989:
986:
984:
981:
980:
978:
974:
970:
965:
959:
956:
954:
951:
950:
948:
944:
939:
936:
933:
929:
926:
924:
920:
916:
905:
902:
899:
896:
894:
891:
888:
884:
881:
879:
876:
875:
873:
870:
866:
860:
857:
855:
852:
851:
849:
846:
842:
839:
834:
830:
825:
819:
815:
811:
804:
799:
797:
792:
790:
785:
784:
781:
768:
764:
763:
759:
758:
755:
751:
744:
740:
739:
735:
733:
729:
728:
724:
722:
718:
717:
713:
709:
708:
705:
700:
696:
689:
684:
681:
678:
675:
672:
669:
668:
664:
655:
651:
644:
641:
636:
630:
627:
622:
618:
612:
609:
604:
600:
596:
592:
588:
584:
580:
576:
569:
566:
561:
557:
552:
547:
543:
539:
535:
531:
527:
523:
519:
512:
509:
504:
500:
494:
491:
486:
482:
478:
474:
470:
466:
462:
458:
454:
450:
443:
440:
435:
431:
427:
423:
419:
415:
411:
407:
400:
397:
393:
387:
384:
379:
375:
370:
365:
361:
357:
353:
349:
345:
338:
335:
324:
320:
314:
312:
308:
301:
297:
294:
292:
289:
287:
284:
281:
278:
276:
273:
271:
268:
267:
263:
261:
259:
255:
250:
248:
244:
240:
236:
231:
225:
223:
216:
214:
210:
203:
201:
199:
195:
187:
185:
183:
179:
175:
171:
163:
158:
155:
152:
149:
145:
142:
139:
136:
133:
130:
129:
128:
125:
124:
117:
116:Pompe disease
113:
110:
106:
103:
100:
96:
92:
89:
86:
83:
82:
81:
78:
77:
70:
68:
66:
62:
58:
57:Danon disease
48:
42:
41:Endocrinology
39:
37:
33:
29:
25:
22:Danon disease
20:
2100:
2089:
1684:
1654:
1626:
1598:
1585:
1572:
1559:
1552:
1536:
1525:Dyslipidemia
1523:
1505:
1318:deficiency,
1187:GSD type VII
1137:
1082:GSD type III
1023:Glycogenesis
973:galactosemia
845:Disaccharide
810:Inborn error
760:
736:
725:
710:
653:
643:
629:
621:ResearchGate
620:
611:
578:
574:
568:
525:
521:
511:
502:
493:
452:
448:
442:
412:(4): 293â8.
409:
405:
399:
391:
386:
351:
347:
337:
326:. Retrieved
322:
251:
246:
234:
232:
229:
220:
211:
207:
191:
177:
167:
126:
122:
121:
79:
75:
74:
60:
56:
55:
2043:RCP 2&3
1438:Hematologic
1100:GSD type IX
1088:GSD type VI
1054:GSD type XV
1037:GSD type IV
835:, transport
581:(1): 51â7.
392:Clin Genet.
27:Other names
2121:Categories
2101:See also:
2038:Acatalasia
1507:Amino acid
1310:Pentosuria
1243:GSD type I
1170:Glycolysis
1094:GSD type V
1031:GSD type 0
934:catabolism
847:catabolism
822:Including
328:2017-07-11
302:References
94:performed.
2083:Lysosomal
1498:Metabolic
1466:Endocrine
1365:disorders
1118:Lysosomal
969:Galactose
871:transport
575:Neurology
542:1179-5468
217:Treatment
204:Diagnosis
182:lysosomes
36:Specialty
2103:proteins
1779:Urologic
1754:Duchenne
1363:X-linked
1014:glycogen
943:Fructose
762:Orphanet
603:32860087
560:26244036
477:10972294
434:31934222
426:15792868
378:19318653
323:omim.org
264:See also
247:Al-Bayan
188:Genetics
1600:Mineral
1157:Glucose
1010:Glucose
923:glucose
833:Sucrose
743:D052120
677:AGSD-UK
595:6450334
551:4498662
485:4332055
457:Bibcode
369:4106257
243:Bergamo
226:History
172:called
123:Females
109:retinal
1685:Other:
1385:Immune
1320:PRKAG2
1178:MODY 2
1045:(APBD)
919:Hexose
732:300257
683:IamGSD
654:ۧÙŰšÙۧÙ
601:
593:
558:
548:
540:
483:
475:
449:Nature
432:
424:
376:
366:
280:GSD-II
164:Causes
43:
2022:RCP 1
1811:tooth
1698:SMAX2
1291:Other
1276:SDDHD
826:(GSD)
767:34587
721:E74.0
599:S2CID
481:S2CID
430:S2CID
235:LAMP2
194:LAMP2
178:LAMP2
174:LAMP2
76:Males
1807:Bone
1708:Skin
1648:PHF8
1418:IPEX
1182:HHF3
738:MeSH
727:OMIM
671:AGSD
591:PMID
556:PMID
538:ISSN
473:PMID
422:PMID
374:PMID
348:JAMA
170:gene
59:(or
1161:CAC
1122:LSD
812:of
712:ICD
583:doi
546:PMC
530:doi
465:doi
453:406
414:doi
364:PMC
356:doi
352:301
198:GSD
2123::
2105:,
1564::
1159:â
1124:):
1012:â
971:/
921:â
816::
765::
741::
730::
719::
716:10
652:.
619:.
597:.
589:.
579:31
577:.
554:.
544:.
536:.
524:.
520:.
501:.
479:.
471:.
463:.
451:.
428:.
420:.
410:15
408:.
372:.
362:.
350:.
346:.
321:.
310:^
184:.
1973:e
1966:t
1959:v
1809:/
1752:/
1669:)
1667:1
1665:(
1630::
1607:/
1602::
1589::
1576::
1540::
1527::
1509::
1476:/
1355:e
1348:t
1341:v
1322:)
1180:/
1120:(
990:/
975::
945::
889:)
885:(
802:e
795:t
788:v
714:-
704:D
656:.
637:.
623:.
605:.
585::
562:.
532::
526:9
487:.
467::
459::
436:.
416::
380:.
358::
331:.
118:.
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