86:
352:
889:
pathogenic mechanisms. Eleven patients with the syndrome (mean age of 23 years, 5 females, 6 males) underwent a brain MRI. The protocol also included conventional sequences, resting-state functional MRI and diffusion tensor imaging. Results found that patients with Alström syndrome had occipital regions with decreased white matter volume as well as decreased gray matter volume sparing the occipital poles. The diffused fractional
40:
717:
to specialized schools that are prepared to teach children with disabilities. Staff members from schools have to consult with patient's parents or caregivers in order to design an education plan based on the child's needs. In addition, the school may document the progress of the child in order to confirm that the child's needs are being met.
689:
individuals are able to meet with a genetic counselor to discuss risks of having the children with the disease. The genetic counselor may also help determine whether individuals carry the defective ALSM1 gene before the individuals conceive a child. Some of the tests the genetic counselors perform include
897:
increased while mean and axial diffusivities were normal. Lastly, the reduced connectivity in the medial visual network was strikingly sparing the occipital poles. The conclusion of the research was that the protean occipital brain changes in patients with Alström syndrome. They are likely to reflect
888:
Research was conducted in 2014 on Alström syndrome patients regarding degeneration and plasticity of the optic pathway. The functional and structural changes have been investigated on the optic pathway in Alström syndrome by using magnetic resonance imaging to provide better insight on the underlying
850:
A prognosis for Alström syndrome is complicated because it widely varies. Any person that has the syndrome have different set of disorders. Permanent blindness, deafness and type 2 diabetes may occur. Liver and kidney failure can progressively get worse. The life expectancy is usually reduced and the
716:
Education: patients with Alström syndrome who have intellectual disabilities must have access to education. They must be able to receive free and appropriate education. Some Alström syndrome patients are educated in normal classrooms. Other patients have to take special education classes or attend
416:
A physical examination would be needed to properly diagnose the patient. Certain physical characteristics can determine if the patient has some type of genetic disorder. Usually, a geneticist would perform the physical examination by measuring the distance around the head, distance between the eyes
1158:
Alstrom, C. H.; Hallgren, B.; Nilsson, L. B.; Asander, H. (1959). "Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the
Laurence-Moon-Bardet-Biedl syndrome: a clinical, endocrinological and genetic
435:
Laboratory tests, particularly genetic testing, are performed to diagnose genetic disorders. Some of the types of genetic testing are molecular, biochemical and chromosomal. Other laboratory tests performed may measure levels of certain substances in urine and blood that can also help suggest a
720:
Hearing aids: the battery-operated devices are available in three styles: behind the ear, in the ear and inside the ear canal. Behind the ear aims for mild-to-profound hearing loss. In the ear aims for mild to severe hearing loss. Lastly, the canal device is aimed for mild to moderately severe
688:
Prevention for Alström syndrome is considered to be harder compared to other diseases/syndromes because it is an inherited condition. However, there are other options that are available for parents with a family history of Alström syndrome. Genetic testing and counseling are available where
769:
Oral diabetes medications: are taken by mouth to treat diabetes. Can be taken combined into a single pill, which may be more effective and convenient for people with diabetes. It is usually taken once or twice daily before meals. Some of these medications includes:
624:
Variable supportive evidence: Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency.
679:
Recurrent pulmonary infections, normal digits, history of developmental delay, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infections/urinary dysfunction, growth hormone deficiency, alopecia.
1630:
396:. In addition, the protein is expressed in all organ tissues of the body. It has a role in the proper function, maintenance and formation of cilia, which are found in all types of cells in the body. At least 239 disease-causing mutations in
408:
It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is often diagnosed clinically, since
1312:
1465:
713:
Corrective lenses: tinted lenses that help with the sensitivity from bright lights. The patients may have to adapt to reading in
Braille, use adaptive equipment, mobility aids and adaptive computing skills.
1198:"Alstr?m syndrome is a rare genetic disorder that is characterized by a number of features, notably including extreme sensitivity to light, hearing problems, heart problems, obesity and type 2 diabetes"
291:
in 100% of cases, apparent by 5 years of age but often apparent in infancy (Alström infants usually have normal birth weights, and by adolescence, weights tend to be in the high-normal to normal range.)
776:(repaglinide and nateglinide): taken to stimulate the cells found in the pancreas to release insulin. These drugs are taken by mouth daily before each meal and could cause a drop in blood sugar.
339:
Endocrine dysfunctions may occur where the patient may experience an under or over active thyroid gland, weak growth hormone, increased androgen in females and low testosterone in males.
807:(Symlin): is an Amylin agonist. It acts centrally (via the brain) to reduce food intake and blood sugar. It is most commonly used at mealtimes by people with type 1 and type 2 diabetes.
1004:
Marshall, Jan D.; Muller, Jean; Collin, Gayle B.; Milan, Gabriella; Kingsmore, Stephen F.; Dinwiddie, Darrell; Farrow, Emily G.; Miller, Neil A.; Favaretto, Francesca (July 2015).
400:
have been described as of 2015. Most of these mutations have led to the production of a dysfunctional version of the ALSM1 protein which are present in tissues, but at low levels.
1438:
788:(rosiglitazone and pioglitazone): taken to help insulin work more efficiently in muscle and fat cells causing the liver to release less glucose. Is associated with heart failure.
736:: helps restore filtering function. With hemodialysis, a patient's blood circulates into an external filter and clean. The filtered blood is then returned into the body. With
801:
Injected diabetes medicine: taken by an injection into the fat below the skin. Sometimes referred as subcutaneous injections. Some of these medications include the following:
1320:
1919:
727:
Occupational therapy: the therapist helps the child learn skills to help him or her perform basic daily tasks like eating, getting dressed and communicating with others.
709:
There is no cure for Alström syndrome; however, there are treatment aims to reduce the symptoms and prevent further complications. Some of these treatment aims include:
1473:
1929:
782:(biguanide): decreases the amount blood sugar being released by the liver and by stimulating the cells within muscles to take up blood sugar. Taken twice daily.
1341:
Badano, Jose L.; Norimasa
Mitsuma; Phil L. Beales; Nicholas Katsanis (September 2006). "The Ciliopathies : An Emerging Class of Human Genetic Disorders".
724:
Diet: an appropriate and healthy diet is necessary for individuals with Alström syndrome because it could potentially decreases chances of obesity or diabetes.
432:
Family and personal medical history are required. Information about the health of an individual is crucial because it provides traces to a genetic diagnosis.
701:. With PGD, the embryos are tested for the ALSM1 gene and only the embryos that are not affected may be chosen for implantation via in vitro fertilization.
1247:
1939:
1924:
817:( a GLP-1 receptor agonist that increases secretion of insulin, decreases the secretion of glucagon from the pancreas and reduces food intake).
1876:
417:
and the length of arms and legs. In addition, examinations for the nervous system or the eyes may be performed. Various imaging studies like
1744:
826:
reductase inhibitors, also called "statins," effectively lower levels of low-density lipoprotein, cholesterol and triglycerides. High-dose
232:
At least 900 cases have been reported. Prevalence is fewer than 1 in 1,000,000 individuals in the general population, but the disorder is
1645:
373:(2p13.2). The gene mutation is inherited as an autosomal recessive trait. This means both parents have to pass a defective copy of the
1494:
1284:
1072:
934:
694:
1523:
Manara, R.; Citton, V.; Maffei, P.; Marshall, J. D.; Naggert, J. K.; Milan, G.; Vettor, R.; Baglione, A.; Vitale, A. (2015-01-01).
229:. Prognosis varies depending on the specific combination of symptoms, but individuals with Alström syndrome rarely live beyond 50.
766:
Antibiotics: patients with lung problems will be prescribed antibiotics because they are more prone to infections like bronchitis.
791:
1108:
1934:
1914:
1780:
268:) in over 60% of cases, usually within the first few weeks after birth, but sometimes the onset is in adolescence or adulthood.
196:, another ciliopathy which has similar symptoms, but Bardet–Biedl syndrome tends to have later onset in its symptoms, includes
156:
1201:
924:
794:(DPP-4) inhibitors (sitagliptin): helps with improving blood sugar levels by decreasing the action of an enzyme breaking down
377:
gene in order for their child to have the syndrome, even though the parents may not show signs or symptoms of the condition.
1871:
260:
Symptoms for Alström syndrome generally appear during infancy with great variability in age. Some of the symptoms include:
1861:
1226:
544:
Other variable supportive evidence: Recurrent pulmonary infections, normal digits, delayed developmental milestones.
493:
1866:
1856:
903:
473:
456:, that were not previously identified in the medical literature as related, may be, in fact, highly related in the
422:
301:
144:
1793:
477:
193:
1889:
1770:
872:
744:
is introduced into the abdomen by a tube. The solution then absorbs the wastes into the body and is then removed.
690:
481:
1737:
1659:
599:
485:
308:
297:(usually affects the children), one of the first symptoms to occur which causes involuntary rapid eye movement.
1255:
646:
Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG).
795:
393:
336:(liver enzymes) often develop in childhood and can progress in some patients to cirrhosis and liver failure.
1137:
265:
148:
278:) in all cases, usually within 15 months of birth and progressively worsening until about 20 years of age
508:
Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication.
384:
gene contains instructions to encode a specific protein known as ALMS1. The protein then is involved in
282:
249:
209:
There is no cure for Alström syndrome. Treatments target the individual symptoms and can include diet,
102:
950:
Joy, T; Cao, H; Black, G; Malik, R; Charlton-Menys, V; Hegele, RA; Durrington, PN (21 December 2007).
356:
324:
164:
730:
Physical
Activity: exercising reduces chances of being obese and helping control blood sugar levels.
1909:
1730:
737:
465:
152:
128:
85:
48:
1415:
860:
585:
318:
275:
140:
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1601:
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1407:
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1358:
1176:
1168:
1043:
1025:
983:
930:
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785:
271:
210:
132:
66:
1835:
1819:
1591:
1546:
1536:
1389:
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1033:
1017:
973:
963:
747:
Transplantation: patients that endure a kidney failure may undergo a kidney transplantation.
489:
445:
314:
168:
71:
59:
1502:
1276:
1222:
Marshall J, Paisey RB, Carey C, Macdermott S. Alström syndrome. GeneReviews. May 31, 2012;
1064:
47:
Transaxial image of the chest at the level of the heart illustrating the typical degree of
1806:
1801:
1354:
1230:
906:
and complex cortical reorganization that affect the posterior and anterior visual cortex.
733:
589:
410:
351:
218:
136:
721:
hearing loss. Patients that have severe hearing loss may benefit from a cochlear implant.
58:(shown in white) in a patient with Alström syndrome; hence the difficulty in imaging by
1551:
1524:
1038:
1005:
978:
951:
615:
595:
233:
222:
160:
55:
39:
1903:
1376:
Marshall, Jan D; Beck, Sebastian; Maffei, Pietro; Naggert, Jürgen K (December 2007).
834:
698:
226:
75:
1100:
1419:
1197:
841:
and beta-blockers may help with the management of cardiomyopathy and heart failure.
604:
370:
342:
Slowly progressive kidney failure can occur in the second to fourth decade of life.
333:
214:
1664:
822:
Cholesterol-lowering medications: is necessary when cholesterol levels are high.
1705:
1694:
894:
804:
773:
570:
497:
241:
197:
16:
Rare genetic disorder involving childhood obesity and multiple organ dysfunction
1814:
1788:
1753:
1710:
1639:
890:
864:
469:
389:
252:
and his three associates, B. Hallgren, I. B. Nilsson and H. Asander, in 1959.
185:
171:. Developmental delay is seen in almost half of people with Alström syndrome.
52:
1675:
1403:
1223:
1172:
1029:
516:
Minimum diagnosis requires 2 major criteria or 1 major and 2 minor criteria.
1596:
1579:
1394:
1377:
814:
810:
779:
566:
461:
329:
294:
192:
have been described as of 2015. Alström syndrome is sometimes confused with
79:
1605:
1560:
1411:
1362:
1180:
1047:
987:
968:
926:
Differential
Diagnosis in Pediatrics: A Compendium of Symptoms and Findings
444:
Recent findings in genetic research have suggested that a large number of
1433:
1431:
1429:
751:
457:
449:
237:
1541:
1248:"Alström Syndrome — Symptoms, Diagnosis, Treatment of Alström Syndrome"
1021:
838:
823:
741:
581:
573:, diminished acuity). If old enough for testing: cone dystrophy by ERG.
453:
418:
288:
1622:
1525:"Degeneration and plasticity of the optic pathway in Alström syndrome"
672:
Males: hypogonadism, Females: irregular menses and/or hyperandrogenism
1634:
952:"Alstrom syndrome (OMIM 203800): a case report and literature review"
899:
385:
245:
201:
181:
94:
1722:
1129:
881:
868:
609:
426:
365:
350:
176:
1653:
1650:
876:
657:
History of dilated cardiomyopathy with congestive heart failure.
1726:
643:
mutation in 1 allele and/or family history of Alström syndrome.
562:
mutation in 1 allele and/or family history of Alström syndrome,
633:
2 major and 2 minor criteria or 1 major and 4 minor criteria.
526:
mutation in 1 allele and/or family history of Alström syndrome
1307:
1305:
1303:
1301:
135:
and multiple organ dysfunction. Symptoms include early-onset
1161:
281:
Delays in early, developmental milestones in 50% of cases,
654:
Obesity and/or insulin resistance and/or Type 2 Diabetes
1460:
1458:
929:. Springer Science & Business Media. p. 315.
540:
Dilated cardiomyopathy with congestive heart failure.
1612:
750:
Surgery: if the patient endures severe scoliosis or
1844:
1828:
1760:
1685:
1616:
1192:
1190:
93:
65:
29:
24:
1578:Marshall JD, Beck S, Maffei P, Naggert JK (2007).
552:2 major criteria or 1 major and 3 minor criteria.
1095:
1093:
1091:
1089:
413:is costly and only available on a limited basis.
248:. It was first described by Swedish psychiatrist
180:, which is involved in the formation of cellular
1130:"OMIM Entry - # 203800 - ALSTROM SYNDROME; ALMS"
429:are used to see the structures within the body.
363:Alström syndrome is caused by a mutation in the
217:, medications for diabetes and heart issues and
1281:NORD (National Organization for Rare Disorders)
1069:NORD (National Organization for Rare Disorders)
321:—development of high level of insulin in blood.
1242:
1240:
1238:
1006:"Alström Syndrome: Mutation Spectrum of ALMS1"
1738:
8:
1343:Annual Review of Genomics and Human Genetics
830:(niacin) may also reduce cholesterol levels.
188:. At least 239 disease-causing mutations in
1745:
1731:
1723:
1613:
1224:http://www.ncbi.nlm.nih.gov/books/NBK1267/
529:Vision pathology (nystagmus, photophobia).
84:
38:
21:
1920:Syndromes with sensorineural hearing loss
1595:
1550:
1540:
1393:
1037:
977:
967:
1529:AJNR. American Journal of Neuroradiology
1159:examination based on a large pedigree".
851:patients rarely live past 50 years old.
915:
904:anterograde trans-synaptic degeneration
1466:"Alstrom syndrome - Clark's Nutrition"
1317:New Bridge Organic Market Jacksonville
174:It is caused by mutations in the gene
1930:Syndromes including diabetes mellitus
1877:Autosomal recessive polycystic kidney
1355:10.1146/annurev.genom.7.080505.115610
7:
1059:
1057:
999:
997:
885:) responsible for Alström syndrome.
355:Alström syndrome is inherited in an
472:. Other known ciliopathies include
221:and transplantation in the case of
1382:European Journal of Human Genetics
1204:from the original on July 25, 2022
629:Presentation 15 years – adulthood:
460:root cause of the widely varying,
369:gene, located on the short arm of
311:usually occurs in early childhood.
131:genetic disorder characterised by
14:
956:Orphanet Journal of Rare Diseases
695:preimplantation genetic diagnosis
1940:Diseases named after discoverers
1781:Asphyxiating thoracic dysplasia
1287:from the original on 2021-03-18
1140:from the original on 2021-03-22
1111:from the original on 2020-09-20
1075:from the original on 2021-03-18
898:coexistence of diffuse primary
798:(lowers the blood sugar level).
157:hypergonadotrophic hypogonadism
1925:Syndromes affecting the retina
1499:www.deafblindinternational.org
468:. Thus, Alstrom syndrome is a
200:and is caused by mutations in
155:typically also occur, such as
1:
837:(ACE) inhibitors, diuretics,
835:Angiotensin-converting enzyme
419:computerized tomography scans
813:(Byetta): synthetic form of
184:, making Alström syndrome a
1252:NY Times Health Information
923:Ewerbeck, H. (2012-12-06).
676:Other supportive features:
332:(fatty liver) and elevated
300:Mild to moderate bilateral
1956:
1867:Orofaciodigital syndrome 1
1857:Primary ciliary dyskinesia
754:, surgery may be required.
474:primary ciliary dyskinesia
423:Magnetic Resonance Imaging
302:sensorineural hearing loss
145:sensorineural hearing loss
1885:
1872:McKusick–Kaufman syndrome
1771:Polycystic kidney disease
893:decreased and the radial
875:, UK isolated the single
873:University of Southampton
691:chorionic villus sampling
125:Alström–Hallgren syndrome
46:
37:
33:Alström–Hallgren syndrome
1495:"About Alström Syndrome"
600:congestive heart failure
143:resulting in blindness,
1597:10.1038/sj.ejhg.5201933
1470:www.clarksnutrition.com
1395:10.1038/sj.ejhg.5201933
1105:Genetics Home Reference
792:Dipeptidyl peptidase IV
394:intracellular transport
1935:Rare genetic syndromes
1915:Syndromes with obesity
969:10.1186/1750-1172-2-49
494:Meckel–Gruber syndrome
360:
266:dilated cardiomyopathy
149:dilated cardiomyopathy
1862:Senior–Løken syndrome
1794:Bardet–Biedl syndrome
548:At 3–14 years of age:
478:Bardet–Biedl syndrome
354:
285:in about 30% of cases
283:learning disabilities
274:and vision problems (
194:Bardet–Biedl syndrome
1200:. January 15, 2019.
636:Major criteria are:
555:Major criteria are:
533:Minor criteria are:
519:Major criteria are:
498:retinal degeneration
325:Hypertriglyceridemia
165:acanthosis nigricans
1505:on 16 November 2017
1323:on 10 December 2015
833:Heart medications:
740:, fluid containing
738:peritoneal dialysis
663:Hepatic dysfunction
594:History of dilated
504:Diagnostic criteria
357:autosomal recessive
153:Endocrine disorders
129:autosomal recessive
1686:External resources
1584:Eur. J. Hum. Genet
1580:"Alström syndrome"
1542:10.3174/ajnr.A4115
1439:"Alstrom syndrome"
1378:"Alström Syndrome"
1313:"Alstrom syndrome"
1277:"Alström Syndrome"
1229:2017-01-18 at the
1101:"Alström syndrome"
1065:"Alström Syndrome"
1022:10.1002/humu.22796
861:Jackson Laboratory
786:Thiazolidinediones
586:insulin resistance
565:Vision pathology (
496:and some forms of
361:
319:insulin resistance
276:cone-rod dystrophy
256:Signs and symptoms
250:Carl-Henry Alström
141:cone-rod dystrophy
103:Carl-Henry Alström
1897:
1896:
1754:Diseases of cilia
1720:
1719:
1388:(12): 1193–1202.
620:Advanced bone age
482:polycystic kidney
450:genetic syndromes
446:genetic disorders
440:Related disorders
272:Light sensitivity
211:corrective lenses
133:childhood obesity
127:, is a very rare
114:
113:
19:Medical condition
1947:
1890:ciliary proteins
1852:Alström syndrome
1836:Nephronophthisis
1820:Joubert syndrome
1747:
1740:
1733:
1724:
1711:Alström Syndrome
1614:
1609:
1599:
1590:(12): 1193–202.
1565:
1564:
1554:
1544:
1520:
1514:
1513:
1511:
1510:
1501:. Archived from
1491:
1485:
1484:
1482:
1481:
1472:. Archived from
1462:
1453:
1452:
1450:
1449:
1435:
1424:
1423:
1397:
1373:
1367:
1366:
1338:
1332:
1331:
1329:
1328:
1319:. Archived from
1309:
1296:
1295:
1293:
1292:
1273:
1267:
1266:
1264:
1263:
1254:. Archived from
1244:
1233:
1220:
1214:
1213:
1211:
1209:
1194:
1185:
1184:
1155:
1149:
1148:
1146:
1145:
1126:
1120:
1119:
1117:
1116:
1097:
1084:
1083:
1081:
1080:
1061:
1052:
1051:
1041:
1001:
992:
991:
981:
971:
947:
941:
940:
920:
650:Minor criteria:
577:Minor criteria:
512:Birth – 2 years:
490:nephronophthisis
454:genetic diseases
315:Hyperinsulinemia
234:much more common
169:hyperinsulinemia
117:Alström syndrome
89:
88:
72:Medical genetics
60:echocardiography
42:
25:Alström syndrome
22:
1955:
1954:
1950:
1949:
1948:
1946:
1945:
1944:
1900:
1899:
1898:
1893:
1881:
1845:Other/ungrouped
1840:
1824:
1807:Meckel syndrome
1802:mitotic spindle
1756:
1751:
1721:
1716:
1715:
1681:
1680:
1625:
1577:
1574:
1572:Further reading
1569:
1568:
1522:
1521:
1517:
1508:
1506:
1493:
1492:
1488:
1479:
1477:
1464:
1463:
1456:
1447:
1445:
1443:Nature's Corner
1437:
1436:
1427:
1375:
1374:
1370:
1340:
1339:
1335:
1326:
1324:
1311:
1310:
1299:
1290:
1288:
1275:
1274:
1270:
1261:
1259:
1258:on 7 March 2016
1246:
1245:
1236:
1231:Wayback Machine
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1217:
1207:
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1127:
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1055:
1003:
1002:
995:
949:
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944:
937:
922:
921:
917:
912:
871:, USA with the
857:
848:
761:
707:
686:
590:Type 2 Diabetes
506:
442:
411:genetic testing
406:
349:
264:Heart failure (
258:
167:resulting from
137:type 2 diabetes
123:), also called
110:
83:
20:
17:
12:
11:
5:
1953:
1951:
1943:
1942:
1937:
1932:
1927:
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1618:
1617:Classification
1611:
1610:
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1570:
1567:
1566:
1515:
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1454:
1425:
1368:
1333:
1297:
1268:
1234:
1215:
1186:
1150:
1121:
1107:. 2015-11-30.
1085:
1053:
1016:(7): 660–668.
1010:Human Mutation
993:
942:
935:
914:
913:
911:
908:
856:
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828:nicotinic acid
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616:Kidney failure
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596:cardiomyopathy
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462:phenotypically
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28:
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1583:
1535:(1): 160–5.
1532:
1528:
1518:
1507:. Retrieved
1503:the original
1498:
1489:
1478:. Retrieved
1474:the original
1469:
1446:. Retrieved
1442:
1385:
1381:
1371:
1346:
1342:
1336:
1325:. Retrieved
1321:the original
1316:
1289:. Retrieved
1280:
1271:
1260:. Retrieved
1256:the original
1251:
1218:
1206:. Retrieved
1164:
1160:
1153:
1142:. Retrieved
1134:www.omim.org
1133:
1124:
1113:. Retrieved
1104:
1077:. Retrieved
1068:
1013:
1009:
959:
955:
945:
925:
918:
887:
880:
858:
849:
774:Meglitinides
762:
708:
687:
678:
675:
660:Hearing loss
649:
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605:Hearing loss
576:
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443:
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397:
392:control and
381:
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371:chromosome 2
364:
362:
259:
231:
215:hearing aids
208:
202:
189:
175:
173:
124:
120:
116:
115:
49:subcutaneous
1706:GeneReviews
1695:MedlinePlus
1349:: 125–148.
895:diffusivity
805:Pramlintide
612:dysfunction
571:photophobia
458:genetypical
436:diagnosis.
242:Nova Scotia
198:polydactyly
107:B. Hallgren
95:Named after
30:Other names
1910:Ciliopathy
1904:Categories
1888:See also:
1815:centrosome
1789:basal body
1761:Structural
1671:DiseasesDB
1509:2015-12-06
1480:2015-11-04
1448:2015-12-06
1327:2015-12-06
1291:2015-11-05
1262:2015-12-06
1144:2019-07-16
1115:2015-12-06
1079:2015-12-07
910:References
891:anisotropy
865:Bar Harbor
759:Medication
697:(PGD) and
684:Prevention
470:ciliopathy
464:-observed
390:cell cycle
388:function,
240:, both in
186:ciliopathy
53:epicardial
1829:Signaling
1768:receptor:
1404:1018-4813
1173:0365-5067
1030:1098-1004
846:Prognosis
815:exendin-4
811:Exenatide
780:Metformin
705:Treatment
567:nystagmus
466:disorders
425:(MRI) or
404:Diagnosis
330:Steatosis
295:Nystagmus
246:Louisiana
80:neurology
67:Specialty
1606:17940554
1561:25355816
1412:17940554
1363:16722803
1285:Archived
1227:Archived
1208:July 25,
1202:Archived
1181:13649370
1167:: 1–35.
1138:Archived
1109:Archived
1073:Archived
1048:25846608
988:18154657
855:Research
752:kyphosis
742:dextrose
734:Dialysis
309:diabetes
238:Acadians
219:dialysis
1665:D056769
1552:7965932
1420:2221696
1039:4475486
979:2266715
839:digoxin
824:HMG-CoA
693:(CVS),
588:and/or
584:and/or
582:Obesity
537:Obesity
448:, both
386:ciliary
359:manner.
307:Type 2
289:Obesity
206:genes.
1778:cargo:
1700:001665
1654:606844
1651:203800
1604:
1559:
1549:
1418:
1410:
1402:
1361:
1179:
1171:
1046:
1036:
1028:
986:
976:
962:: 49.
933:
900:myelin
427:X-rays
421:(CT),
223:kidney
82:
1640:Q87.8
1416:S2CID
882:ALMS1
869:Maine
796:GLP-1
641:ALMS1
610:Liver
598:with
560:ALMS1
524:ALMS1
398:ALMS1
382:ALMS1
375:ALMS1
366:ALMS1
347:Cause
190:ALMS1
182:cilia
177:ALMS1
1660:MeSH
1646:OMIM
1602:PMID
1557:PMID
1408:PMID
1400:ISSN
1359:PMID
1210:2022
1177:PMID
1169:ISSN
1044:PMID
1026:ISSN
984:PMID
931:ISBN
877:gene
859:The
484:and
452:and
380:The
244:and
159:and
147:and
51:and
1676:465
1631:ICD
1592:doi
1547:PMC
1537:doi
1390:doi
1351:doi
1165:129
1034:PMC
1018:doi
974:PMC
964:doi
863:in
236:in
225:or
203:BBS
1906::
1818::
1792::
1709::
1698::
1674::
1663::
1649::
1638::
1635:10
1600:.
1588:15
1586:.
1582:.
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1533:36
1531:.
1527:.
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1457:^
1441:.
1428:^
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1406:.
1398:.
1386:15
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1300:^
1283:.
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1237:^
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1175:.
1163:.
1136:.
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1103:.
1088:^
1071:.
1067:.
1056:^
1042:.
1032:.
1024:.
1014:36
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1008:.
996:^
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139:,
121:AS
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1623:D
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1147:.
1118:.
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960:2
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317:/
304:.
119:(
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