439:
material from an infantile case with amaurotic idiocy. The glycolipid analysis soon demonstrated differences from all the cases studied before. Besides the neuronal storage of GM2, the storage of GA2 was much more pronounced, and different from all cases of Tay-Sachs disease studied so far, globoside accumulated in the visceral organs and, most importantly, hexosaminidase activity was almost completely absent. The disease causing catabolic enzyme deficiency of hexosaminidases was demonstrated with four different substrates (p–nitrophenyl-β-D-N-acetylglucosaminide, p-nitrophenyl-β-D-N-acetylgalactosaminide, glycolipid GA2 and globoside) in four different organs and published in 1968.
82:
115:. The classic infantile form of the disease has the most severe symptoms and is incredibly hard to diagnose at this early age. The first signs of symptoms begin before 6 months of age and the parents’ notice when the child begins regressing in their development. If the children had the ability to sit up by themselves or crawl they will lose this ability. This is caused by a slow deterioration of the muscles in the child's body from the buildup of GM2
58:
410:
suffer from aspiration or lack the ability to change from the passageway to their lungs versus their stomach and their spit travels to the lungs causing bronchopneumonia. The patient also lacks the ability to cough and therefore must undergo a treatment to shake up their body to remove the mucus from the lining of their lungs. Medication is also given to patients to lessen their symptoms including seizures.
127:, it is unable to attach to these gangliosides to break them apart and make them non-toxic. With this buildup there are several symptoms that begin to appear such as muscle/motor weakness, sharp reaction to loud noises, blindness, deafness, inability to react to stimulants, respiratory problems and infections, mental retardation, seizures, cherry red spots in the retina, enlarged liver and spleen (
427:
435:
analysis of various patients with amaurotic idiocy by Konrad
Sandhoff (born 1939), a German biochemist, led to the identification of several biochemically distinct diseases: the first biochemical description of GM1-gangliosidosis in 1963, Sandhoff disease in 1968, Tay-Sachs-Disease, the AB-variant of GM2-Gangliosidosis and the B1-variant of GM2-gangliosidosis.
438:
The molecular defect in
Sandhoff disease was discovered when Sandhoff studied the biochemistry of sphingolipids and gangliosides in the laboratory of Prof. Horst Jatzkewitz (1912–2002), a German biochemist (Max Planck Institute for Psychiatry, Munich). In October 1966, he obtained deep-frozen autopsy
318:
screening if they are at high risk, to determine their carrier status before they have children. However, it is also highly recommended to undergo testing even for those parents who do not have a family history of
Sandhoff disease. Over 95% of the families that have children with Sandhoff disease had
240:
rather than a high population frequency, because
Ashkenazi Jews were the targeted population in a mass screening program for Tay-Sachs disease. Several rare SD mutations were discovered as researchers resolved cases of enzyme deficiency among suspected TSD carriers, but no cases of the disease itself
409:
to manage seizures or medications to treat respiratory infections, and consume a precise diet consisting of puree foods due to difficulties swallowing. Infants with the disease usually die by the age of 3 due to respiratory infections. The patient must be under constant surveillance because they can
244:
However, since it is an autosomal recessive disease, it is likely found in any ethnic group passing from generation to generation through carriers without being expressed in their offspring. Even though the family may not have a history of
Sandhoff disease, it is possible for two individuals to have
182:
particularly within the C1214T allele caused the adult onset form of
Sandhoff Disease. For the patient showing symptoms of the infantile or juvenile form they have a mutation on exon I207V from their father, and a 16 base pair deletion from their mother which can be located on as many as five exons,
417:
in mice, as well as stem cell treatment in humans and other medical treatments recruiting test patients. A Sandhoff disease study showing proof of principle for gene therapy in a human model system using CRISPR and virus gene correction gives the chance for clinical trials to cure the disease. The
434:
Sandhoff disease is one of several forms of what was formerly known as amaurotic idiocy. This inherited disease is characterized by the accumulation of lipid-containing cells in the viscera and in the nervous system, mental retardation, and impaired vision or blindness. The chemical and enzymatic
313:
to determine if the above-noted compounds are abnormally stored within the body. For a child to suffer from this disease, both parents must be carriers, and both must transmit the mutation to the child. Thus, even in the case where both parents have the mutation, there is only a 25 percent chance
142:
The other two forms of
Sandhoff disease have similar symptoms but to a lesser extent. Adult and juvenile forms of Sandhoff disease are more rare than the infantile form. In these cases victims suffer cognitive impairment (retardation) and a loss of muscle coordination that impairs and eventually
98:
caused by the inherited deficiency to create functional beta-hexosaminidases A and B. These catabolic enzymes are needed to degrade the neuronal membrane components, ganglioside GM2, its derivative GA2, the glycolipid globoside in visceral tissues, and some oligosaccharides. Accumulation of these
323:
gene does not cause clinical symptoms when only one copy is present, and often passed undetected from one generation to the next
Naturally, if an individual carries the mutation, he or she has a risk of transmitting it to the unborn child. Genetic counseling is recommended for those who have the
346:
Classic infantile form of the disease is classified by the development of symptoms anywhere from 2 months to 9 months of age. It is the most common and most severe of all of the forms and will lead to death before the patient reaches the age of three. Infants with this disorder typically appear
327:
It is possible for parents who are about to have a child or had a child with
Sandhoff Disease can have a PGD or PEGD. PEGD is pre-embryonic genetic diagnosis for the parents that would not benefit from a pre-implantation genetic diagnosis because of their religion or negative attitude for the
391:
Juvenile and adult onset forms of
Sandhoff disease are very rare. Signs and symptoms can begin in childhood, adolescence, or adulthood and are usually milder than those seen with the infantile form of Sandhoff disease. As in the infantile form, mental abilities and coordination are affected.
404:
Currently Sandhoff disease does not have any standard treatment and does not have a cure. However, a person suffering from the disease needs proper nutrition, hydration, and maintenance of clear airways. To reduce some symptoms that may occur with Sandhoff disease, the patient may take
386:
Adult onset form of the disease is classified by its occurrence in older individuals and has an effect on the motor function of these individuals. It is not yet known if Sandhoff disease will cause these individuals to have a decrease in their life
143:
destroys their ability to walk; the characteristic red spots in the retina also develop. The adult form of the disease, however, is sometimes milder, and may only lead to muscle weakness that impairs walking or the ability to get out of bed.
1549:
1534:
1519:
332:
to be produced by two parents if they were to conceive a child. If the family has a history of Sandhoff disease it is recommended they have their genome sequenced to ensure they are not carriers or to sequence the genome of their child.
378:
The juvenile form of the disease shows symptoms starting at age 3 ranging to age 10 and, although the child usually dies by the time they are 15, it is possible for them to live longer if they are under constant care. Symptoms include
579:
Pilz H, MĂĽller D, Sandhoff K, ter Meulen V (September 1968). "Tay-Sachssche Krankheit mit Hexosaminidase-Defekt (Klinische, morphologische und biochemische Befunde bei einem Fall mit viszeraler Speicherung von Nierenglobosid)".
270:, which function in nerve cells to break down fatty substances, complex sugars, and molecules that are linked to sugars. In particular, beta-hexosaminidase A breaks down a fatty compound called GM2 ganglioside. Mutations in the
166:
in the HEX B gene located within chromosome 5 (see figure bottom), leading to the differences in severities of the symptoms. The difference in the codons has the consequence of inhibiting two enzymes located in the
341:
There are three types of Sandhoff disease: classic infantile, juvenile, and adult late onset. Each form is classified by the severity of the symptoms as well as the age at which the patient shows these symptoms.
990:
Chamoles NA, Blanco M, Gaggioli D, Casentini C (April 2002). "Tay-Sachs and Sandhoff diseases: enzymatic diagnosis in dried blood spots on filter paper: retrospective diagnoses in newborn-screening cards".
889:
Kleiman FE, et al. (1994). "Sandhoff disease in Argentina: high frequency of a splice site mutation in the HEXB gene and correlation between enzyme and DNA-based tests for heterozygote detection".
103:, another genetic disorder that disrupts beta-hexosaminidases A and S. There are three subsets of Sandhoff disease based on when first symptoms appear: classic infantile, juvenile and adult late onset.
99:
metabolites leads to a progressive destruction of the central nervous system and eventually to death. The rare autosomal recessive neurodegenerative disorder is clinically almost indistinguishable from
482:
Sandhoff K, Andreae U, Jatzkewitz H (March 1968). "Deficient hexosaminidase activity in an exceptional case of Tay-Sachs disease with additional storage of kidney globoside in visceral organs".
968:
Cantor RM, Kaback MM (1985). "Sandhoff disease (SHD) heterozygote frequencies (HF) in North American (NA) Jewish (J) and non-Jewish (NJ) populations: implications for carrier (C) screening".
196:
Articles regarding Sandhoff disease frequencies among distinct groups of people contain discrepancies from one another. More than 25 mutations have been reported other than novel mutations.
277:
As a result, progressive damage caused by the resulting buildup of GM2 ganglioside leads to the destruction of nerve cells, causing the signs and symptoms associated with Sandhoff disease.
1197:
Allende, Maria L.; Cook, Emily K.; Larman, Bridget C.; Nugent, Adrienne; Brady, Jacqueline M.; Golebiowski, Diane; Sena-Esteves, Miguel; Tifft, Cynthia J.; Proia, Richard L. (2018-01-22).
1496:
933:
Drousiotou A, et al. (2000). "Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community".
1373:"AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2"
1061:
Zhang, Zhi-Xin; Nobuaki Wakamatsu; Emilie H. Mulesi; George H. Thomasi; Roy A. Gravel (1994). "Impact of premature stop codons on mRNA levels in infantile Sandhoff disease".
623:
Harzer K, Sandhoff K, Schall H, Kollmann F (November 1971). "Enzymatische Untersuchungen im Blut von Überträgern einer Variante der Tay-Sachsschen Erkrankung (Variante 0)".
1649:
693:
Gomez-Lira M, Sangalli A, Mottes M, Perusi C, Pignatti PF, Rizzuto N, Salviati A (1995). "A common β hexosaminidase gene mutation in adult Sandhoff disease patients".
396:) and other problems with movement, speech problems, and mental illness. These signs and symptoms vary widely among people with late-onset forms of Sandhoff disease.
1256:
175:
contain various enzymes to break down byproducts and toxins to ensure they do not accumulate enough to interfere with the function of the central nervous system.
1786:
245:
a child with the disease. Since Sandhoff disease was only discovered in 1968, there are years the disease has gone undetected because of misdiagnoses.
1980:
1121:
Hendriksz CJ, Corry PC, Wraith JE, Besley GT, Cooper A, Ferrie CD (2004). "Juvenile Sandhoff disease-Nine New Cases and a review of the literature".
1894:
371:, which can be identified with an eye examination, is characteristic of this disorder. Some infants with Sandhoff disease may have enlarged organs (
151:
Two parents carrying a mutated gene and passing it on to their offspring cause the disease. Even with both parents carrying the disease in their
1960:
186:
1642:
1970:
1627:
843:
1564:
670:
1181:
1925:
1096:
1791:
1965:
1929:
1666:
1635:
1899:
1026:
Kuliev A, Rechitsky S, Laziuk K, Verlinsky O, Tur-Kaspa I, Verlinsky Y (2006). "Pre-Embryonic diagnosis for Sandhoff Disease".
1920:
1886:
1732:
448:
355:
such as turning over, sitting, and crawling. As the disease progresses, infants develop seizures, vision and hearing loss,
155:, there is only a 25% chance that they will have a child containing the genetic coding for the disease (see figure right).
1841:
1320:
Okada S, O'Brien JS (August 1969). "Tay-Sachs disease: generalized absence of a beta-D-N-acetylhexosaminidase component".
285:
Sandhoff disease can be detected through the following procedures (before it is apparent through physical examination): a
1264:
1836:
1199:"Cerebral organoids derived from Sandhoff disease induced pluripotent stem cells exhibit impaired neurodifferentiation"
1662:
1658:
1782:
158:
Each form of the disease is caused by the differences in the various mutations of the genome, in particular the
1575:
414:
375:) or bone abnormalities. Children with the severe form of this disorder usually live only into early childhood.
213:
1257:"Sandhoff disease study shows proof of principle for gene therapy - Scienmag: Latest Science and Health News"
274:
gene disrupt the activity of these enzymes, preventing the breakdown of GM2 ganglioside and other molecules.
1975:
1939:
1670:
1491:
124:
95:
1727:
112:
100:
1752:
1615:
1285:
Jatzkewitz H, Sandhoff K (June 1963). "On a biochemically special form of infantile amaturotic idiocy".
267:
263:
1801:
1432:"Variant of GM2-gangliosidosis with hexosaminidase A having a severely changed substrate specificity"
1384:
1329:
535:
1553:
262:
cause Sandhoff disease. The gene provides instructions for making a protein crucial to the enzymes
199:
One article says that Sandhoff disease is found commonly in individuals with a non-Jewish descent.
81:
1164:
Karbani, Gulshan A (15 May 2012). "Genetic Counselling: Consanguinity and Cultural Expectations".
1846:
1718:
1713:
1353:
1146:
915:
718:
648:
605:
561:
302:
237:
128:
314:
their child will inherit the condition. Frequently, parents are given the opportunity to have a
1586:
1461:
1412:
1345:
1302:
1238:
1220:
1177:
1138:
1078:
1043:
1008:
950:
907:
847:
822:
710:
640:
597:
553:
499:
70:
739:
1797:
1679:
1451:
1443:
1402:
1392:
1337:
1294:
1228:
1210:
1169:
1130:
1070:
1035:
1000:
942:
899:
812:
702:
632:
589:
543:
491:
136:
1543:
406:
368:
294:
57:
1134:
1100:
1388:
1333:
1173:
539:
1933:
1904:
1872:
1850:
1822:
1700:
1447:
1233:
1198:
817:
800:
298:
233:
1558:
1456:
1431:
1407:
1372:
1039:
1004:
1954:
1775:
1767:
1756:
1298:
609:
548:
523:
495:
75:
1150:
722:
565:
1817:
1357:
919:
760:
652:
372:
352:
306:
217:
179:
116:
185:
1580:
1341:
1860:
1709:
1695:
1591:
426:
1528:
392:
Characteristic features include muscle weakness, loss of muscle coordination (
310:
1224:
1832:
1812:
1744:
1538:
453:
364:
360:
207:
172:
132:
1397:
1306:
1242:
1142:
1047:
1012:
954:
593:
557:
1465:
1349:
1082:
1074:
946:
911:
714:
644:
601:
503:
1868:
1684:
1610:
826:
356:
222:
168:
1416:
1215:
418:
ultra-rare occurrence is a main hurdle to overcome for clinical trials.
17:
903:
706:
636:
524:"Variation of beta-N-acetylhexosaminidase-pattern in Tay-Sachs disease"
319:
no known prior family history of the condition, as the mutation in the
120:
1511:
383:, ataxia, motor skills regression, spacticity, and learning disorders.
1523:
393:
380:
348:
329:
286:
226:
159:
152:
347:
normal until the age of 3 to 6 months, when development slows and
290:
163:
413:
Currently the government is testing several treatments including
1569:
674:
259:
255:
178:
Using restriction enzymes, it was discovered that a mutation on
65:
Sandhoff disease is inherited via an autosomal recessive manner.
1631:
315:
1430:
Kytzia HJ, Hinrichs U, Maire I, Suzuki K, Sandhoff K (1983).
111:
Sandhoff disease symptoms are clinically indeterminable from
846:. Department of Neurology Jefferson Hospital. Archived from
871:. National Tay-Sachs & Allied Disease Association, Inc
1478:
328:
discarding of embryos. PEGD sequences the genome of the
868:
1477:
This article incorporates some public domain text from
1097:"From a parents perspective: Parents view of Sandhoff"
1501:
301:
and tissues (to determine the presence of a genetic
1913:
1885:
1858:
1810:
1765:
1742:
1693:
1678:
1601:
1505:
69:
37:
32:
351:used for movement weaken. Affected infants lose
171:of the neurons of the central nervous system.
1643:
8:
838:
836:
1690:
1650:
1636:
1628:
1502:
1099:. sandhoffdisease.webs.com. Archived from
119:. Since the body is unable to create the
80:
56:
29:
1455:
1406:
1396:
1232:
1214:
816:
794:
792:
785:. Lippincott Williams & Wilkin. 2008.
547:
1371:Conzelmann E, Sandhoff K (August 1978).
1261:Scienmag: Latest Science and Health News
425:
202:Others say that it is more commonly in:
844:"Lysosomal Diseases Testing Laboratory"
801:"Carrier detection in Sandhoff disease"
688:
686:
684:
682:
465:
1123:Journal of Inherited Metabolic Disease
985:
983:
734:
732:
666:
664:
662:
1479:The U.S. National Library of Medicine
517:
515:
513:
289:removing a sample of tissue from the
253:Biallelic pathogenic variants in the
7:
477:
475:
473:
471:
469:
1174:10.1002/9780470015902.a0006179.pub2
671:Online Mendelian Inheritance in Man
1448:10.1002/j.1460-2075.1983.tb01567.x
1135:10.1023/B:BOLI.0000028777.38551.5a
970:American Journal of Human Genetics
805:American Journal of Human Genetics
740:"Introduction to Sandhoff Disease"
232:Discovery of several mutations in
206:the Creole population of northern
25:
1926:Cholesteryl ester storage disease
50:hexosaminidase A and B deficiency
1981:Diseases named after discoverers
1930:Lysosomal acid lipase deficiency
781:"Symptoms of Sandhoff Disease".
184:
1028:Reproductive BioMedicine Online
799:Lowden JA, et al. (1978).
742:. The Medical Biochemistry Page
46:variant 0 of GM2-gangliosidosis
1921:Cerebrotendinous xanthomatosis
449:GM2-gangliosidosis, AB variant
1:
1961:Autosomal recessive disorders
1842:Multiple sulfatase deficiency
1166:Encyclopedia Of Life Sciences
1040:10.1016/S1472-6483(10)61005-X
1005:10.1016/S0009-8981(02)00002-5
1837:Metachromatic leukodystrophy
1342:10.1126/science.165.3894.698
1299:10.1016/0006-3002(63)90764-9
1263:. 2018-02-22. Archived from
549:10.1016/0014-5793(69)80274-7
496:10.1016/0024-3205(68)90024-6
1971:Neurodegenerative disorders
1900:Jansky–Bielschowsky disease
42:Sandhoff–Jatzkewitz disease
1997:
1659:Lysosomal storage diseases
522:Sandhoff K (August 1969).
192:Mutations and polymorphism
1203:Journal of Lipid Research
763:. Genetics Home Reference
675:Sandhoff Disease - 268800
64:
55:
1377:Proc Natl Acad Sci U S A
1063:Human Molecular Genetics
415:N-butyl-deoxynojirimycin
297:, molecular analysis of
94:is a lysosomal genetic,
1966:Lipid storage disorders
1671:Lipid storage disorders
1940:Sea-blue histiocytosis
1398:10.1073/pnas.75.8.3979
783:Medical Books Excerpts
594:10.1055/s-0028-1110836
431:
125:central nervous system
96:lipid storage disorder
1753:Globotriaosylceramide
947:10.1007/s004390050003
429:
367:abnormality called a
309:, and occasionally a
268:beta-hexosaminidase B
264:beta-hexosaminidase A
1783:Niemann–Pick disease
1287:Biochim Biophys Acta
993:Clinica Chimica Acta
582:Dtsch Med Wochenschr
241:have been reported.
123:it needs within the
1389:1978PNAS...75.3979C
1334:1969Sci...165..698O
1216:10.1194/jlr.M081323
1075:10.1093/hmg/3.1.139
540:1969FEBSL...4..351S
1847:Galactocerebroside
1719:GM2 gangliosidoses
1714:GM1 gangliosidoses
1602:External resources
904:10.1007/bf00208283
761:"Sandhoff Disease"
707:10.1007/bf00191799
637:10.1007/bf01732464
432:
303:metabolic disorder
238:ascertainment bias
223:Christian Maronite
129:hepatosplenomegaly
107:Symptoms and signs
1948:
1947:
1881:
1880:
1802:Gaucher's disease
1728:Tay–Sachs disease
1625:
1624:
869:"Carrier Testing"
850:on April 10, 2009
225:communities from
113:Tay–Sachs disease
101:Tay–Sachs disease
89:
88:
27:Medical condition
16:(Redirected from
1988:
1798:Glucocerebroside
1787:SMPD1-associated
1723:Sandhoff disease
1691:
1680:Sphingolipidoses
1667:lipid metabolism
1652:
1645:
1638:
1629:
1503:
1492:Sandhoff Disease
1470:
1469:
1459:
1427:
1421:
1420:
1410:
1400:
1368:
1362:
1361:
1328:(894): 698–700.
1317:
1311:
1310:
1282:
1276:
1275:
1273:
1272:
1253:
1247:
1246:
1236:
1218:
1194:
1188:
1187:
1161:
1155:
1154:
1118:
1112:
1111:
1109:
1108:
1093:
1087:
1086:
1058:
1052:
1051:
1023:
1017:
1016:
987:
978:
977:
965:
959:
958:
930:
924:
923:
886:
880:
879:
877:
876:
865:
859:
858:
856:
855:
840:
831:
830:
820:
796:
787:
786:
778:
772:
771:
769:
768:
757:
751:
750:
748:
747:
736:
727:
726:
690:
677:
668:
657:
656:
620:
614:
613:
576:
570:
569:
551:
519:
508:
507:
479:
430:Sphingolipidoses
188:
137:bronchopneumonia
92:Sandhoff disease
85:
84:
60:
33:Sandhoff disease
30:
21:
1996:
1995:
1991:
1990:
1989:
1987:
1986:
1985:
1951:
1950:
1949:
1944:
1909:
1877:
1854:
1815:
1806:
1761:
1757:Fabry's disease
1738:
1698:
1682:
1674:
1656:
1626:
1621:
1620:
1597:
1596:
1514:
1487:
1474:
1473:
1429:
1428:
1424:
1370:
1369:
1365:
1319:
1318:
1314:
1284:
1283:
1279:
1270:
1268:
1255:
1254:
1250:
1196:
1195:
1191:
1184:
1163:
1162:
1158:
1120:
1119:
1115:
1106:
1104:
1095:
1094:
1090:
1060:
1059:
1055:
1025:
1024:
1020:
989:
988:
981:
967:
966:
962:
932:
931:
927:
888:
887:
883:
874:
872:
867:
866:
862:
853:
851:
842:
841:
834:
798:
797:
790:
780:
779:
775:
766:
764:
759:
758:
754:
745:
743:
738:
737:
730:
692:
691:
680:
669:
660:
631:(21): 1189–91.
625:Klin Wochenschr
622:
621:
617:
578:
577:
573:
521:
520:
511:
481:
480:
467:
462:
445:
424:
407:anticonvulsants
402:
369:cherry-red spot
339:
295:genetic testing
283:
251:
249:Pathophysiology
212:the indigenous
194:
149:
109:
79:
28:
23:
22:
15:
12:
11:
5:
1994:
1992:
1984:
1983:
1978:
1973:
1968:
1963:
1953:
1952:
1946:
1945:
1943:
1942:
1937:
1934:Wolman disease
1923:
1917:
1915:
1911:
1910:
1908:
1907:
1905:Batten disease
1902:
1897:
1891:
1889:
1883:
1882:
1879:
1878:
1876:
1875:
1873:Farber disease
1865:
1863:
1856:
1855:
1853:
1851:Krabbe disease
1844:
1839:
1830:
1828:
1827:
1826:
1823:leukodystrophy
1808:
1807:
1805:
1804:
1795:
1789:
1772:
1770:
1763:
1762:
1760:
1759:
1749:
1747:
1740:
1739:
1737:
1736:
1730:
1725:
1716:
1706:
1704:
1701:gangliosidoses
1688:
1676:
1675:
1657:
1655:
1654:
1647:
1640:
1632:
1623:
1622:
1619:
1618:
1606:
1605:
1603:
1599:
1598:
1595:
1594:
1583:
1572:
1561:
1546:
1531:
1515:
1510:
1509:
1507:
1506:Classification
1500:
1499:
1486:
1485:External links
1483:
1472:
1471:
1422:
1383:(8): 3979–83.
1363:
1312:
1277:
1248:
1209:(3): 550–563.
1189:
1183:978-0470016176
1182:
1156:
1113:
1088:
1069:(1): 139–145.
1053:
1034:(3): 328–333.
1018:
999:(1–2): 133–7.
979:
960:
935:Human Genetics
925:
892:Human Genetics
881:
860:
832:
811:(1): 338–345.
788:
773:
752:
728:
701:(4): 417–422.
695:Human Genetics
678:
658:
615:
588:(39): 1833–9.
571:
534:(4): 351–354.
509:
464:
463:
461:
458:
457:
456:
451:
444:
441:
423:
420:
401:
398:
389:
388:
384:
376:
338:
335:
282:
279:
250:
247:
234:Ashkenazi Jews
230:
229:
220:
210:
193:
190:
148:
145:
108:
105:
87:
86:
73:
67:
66:
62:
61:
53:
52:
39:
35:
34:
26:
24:
14:
13:
10:
9:
6:
4:
3:
2:
1993:
1982:
1979:
1977:
1976:Rare diseases
1974:
1972:
1969:
1967:
1964:
1962:
1959:
1958:
1956:
1941:
1938:
1935:
1931:
1927:
1924:
1922:
1919:
1918:
1916:
1912:
1906:
1903:
1901:
1898:
1896:
1893:
1892:
1890:
1888:
1884:
1874:
1870:
1867:
1866:
1864:
1862:
1857:
1852:
1848:
1845:
1843:
1840:
1838:
1834:
1831:
1829:
1824:
1821:
1820:
1819:
1814:
1809:
1803:
1799:
1796:
1793:
1790:
1788:
1784:
1781:
1780:phospholipid:
1777:
1776:Sphingomyelin
1774:
1773:
1771:
1769:
1768:sphingomyelin
1764:
1758:
1754:
1751:
1750:
1748:
1746:
1741:
1734:
1731:
1729:
1726:
1724:
1720:
1717:
1715:
1711:
1708:
1707:
1705:
1702:
1697:
1692:
1689:
1686:
1681:
1677:
1672:
1668:
1664:
1663:Inborn errors
1660:
1653:
1648:
1646:
1641:
1639:
1634:
1633:
1630:
1617:
1613:
1612:
1608:
1607:
1604:
1600:
1593:
1589:
1588:
1584:
1582:
1578:
1577:
1573:
1571:
1567:
1566:
1562:
1560:
1556:
1555:
1551:
1547:
1545:
1541:
1540:
1536:
1532:
1530:
1526:
1525:
1521:
1517:
1516:
1513:
1508:
1504:
1498:
1494:
1493:
1489:
1488:
1484:
1482:
1481:
1480:
1467:
1463:
1458:
1453:
1449:
1445:
1442:(7): 1201–5.
1441:
1437:
1433:
1426:
1423:
1418:
1414:
1409:
1404:
1399:
1394:
1390:
1386:
1382:
1378:
1374:
1367:
1364:
1359:
1355:
1351:
1347:
1343:
1339:
1335:
1331:
1327:
1323:
1316:
1313:
1308:
1304:
1300:
1296:
1292:
1288:
1281:
1278:
1267:on 2018-02-24
1266:
1262:
1258:
1252:
1249:
1244:
1240:
1235:
1230:
1226:
1222:
1217:
1212:
1208:
1204:
1200:
1193:
1190:
1185:
1179:
1175:
1171:
1167:
1160:
1157:
1152:
1148:
1144:
1140:
1136:
1132:
1128:
1124:
1117:
1114:
1103:on 2009-01-29
1102:
1098:
1092:
1089:
1084:
1080:
1076:
1072:
1068:
1064:
1057:
1054:
1049:
1045:
1041:
1037:
1033:
1029:
1022:
1019:
1014:
1010:
1006:
1002:
998:
994:
986:
984:
980:
975:
971:
964:
961:
956:
952:
948:
944:
940:
936:
929:
926:
921:
917:
913:
909:
905:
901:
898:(3): 279–82.
897:
893:
885:
882:
870:
864:
861:
849:
845:
839:
837:
833:
828:
824:
819:
814:
810:
806:
802:
795:
793:
789:
784:
777:
774:
762:
756:
753:
741:
735:
733:
729:
724:
720:
716:
712:
708:
704:
700:
696:
689:
687:
685:
683:
679:
676:
672:
667:
665:
663:
659:
654:
650:
646:
642:
638:
634:
630:
626:
619:
616:
611:
607:
603:
599:
595:
591:
587:
583:
575:
572:
567:
563:
559:
555:
550:
545:
541:
537:
533:
529:
525:
518:
516:
514:
510:
505:
501:
497:
493:
489:
485:
478:
476:
474:
472:
470:
466:
459:
455:
452:
450:
447:
446:
442:
440:
436:
428:
421:
419:
416:
411:
408:
399:
397:
395:
385:
382:
377:
374:
370:
366:
362:
358:
354:
350:
345:
344:
343:
336:
334:
331:
325:
322:
317:
312:
308:
304:
300:
296:
292:
288:
280:
278:
275:
273:
269:
265:
261:
258:
257:
248:
246:
242:
239:
235:
228:
224:
221:
219:
215:
211:
209:
205:
204:
203:
200:
197:
191:
189:
187:
181:
176:
174:
170:
165:
161:
156:
154:
146:
144:
140:
138:
134:
130:
126:
122:
118:
114:
106:
104:
102:
97:
93:
83:
77:
76:Endocrinology
74:
72:
68:
63:
59:
54:
51:
47:
43:
40:
36:
31:
19:
1818:sulfatidoses
1779:
1722:
1609:
1585:
1574:
1563:
1548:
1533:
1518:
1490:
1476:
1475:
1439:
1435:
1425:
1380:
1376:
1366:
1325:
1321:
1315:
1290:
1286:
1280:
1269:. Retrieved
1265:the original
1260:
1251:
1206:
1202:
1192:
1165:
1159:
1129:(2): 241–9.
1126:
1122:
1116:
1105:. Retrieved
1101:the original
1091:
1066:
1062:
1056:
1031:
1027:
1021:
996:
992:
973:
969:
963:
941:(1): 12–17.
938:
934:
928:
895:
891:
884:
873:. Retrieved
863:
852:. Retrieved
848:the original
808:
804:
782:
776:
765:. Retrieved
755:
744:. Retrieved
698:
694:
628:
624:
618:
585:
581:
574:
531:
527:
490:(6): 283–8.
487:
483:
437:
433:
412:
403:
390:
373:organomegaly
353:motor skills
340:
326:
320:
307:enzyme assay
284:
276:
271:
254:
252:
243:
236:may reflect
231:
218:Saskatchewan
201:
198:
195:
180:chromosome 5
177:
157:
150:
141:
117:gangliosides
110:
91:
90:
49:
45:
41:
1861:sphingosine
1710:Ganglioside
1696:ganglioside
183:exons 1–5.
38:Other names
1955:Categories
1733:AB variant
1587:DiseasesDB
1271:2018-02-23
1107:2009-05-03
875:2009-05-03
854:2009-05-03
767:2009-05-03
746:2009-05-03
460:References
324:mutation.
311:urinalysis
162:on the 14
1895:Infantile
1833:Sulfatide
1813:sulfatide
1745:globoside
1293:: 354–6.
1225:0022-2275
610:260064612
528:FEBS Lett
454:Globoside
400:Treatment
361:paralysis
281:Diagnosis
208:Argentina
173:Lysosomes
169:lysosomes
133:pneumonia
71:Specialty
1869:Ceramide
1685:ceramide
1611:Orphanet
1307:13957544
1243:29358305
1151:41447979
1143:15159655
1048:16569321
1013:11880123
955:10982028
723:39688704
673:(OMIM):
566:84542601
558:11947222
484:Life Sci
443:See also
357:dementia
18:Sandhoff
1581:D012497
1466:6226523
1385:Bibcode
1358:8473726
1350:5793973
1330:Bibcode
1322:Science
1234:5832932
1083:8162015
920:9666991
912:8076944
818:1685463
715:7557963
653:1735733
645:5124584
602:5679107
536:Bibcode
504:5651108
422:History
349:muscles
121:enzymes
1792:type C
1570:268800
1544:E75.01
1464:
1457:555256
1454:
1436:EMBO J
1415:
1408:392913
1405:
1356:
1348:
1305:
1241:
1231:
1223:
1180:
1149:
1141:
1081:
1046:
1011:
976:: A48.
953:
918:
910:
827:414620
825:
815:
721:
713:
651:
643:
608:
600:
564:
556:
502:
394:ataxia
381:autism
359:, and
330:embryo
287:biopsy
227:Cyprus
160:codons
153:genome
147:Causes
78:
1914:Other
1811:From
1766:From
1743:From
1694:From
1592:29469
1559:330.1
1539:10-CM
1529:E75.0
1497:NINDS
1417:99746
1354:S2CID
1147:S2CID
916:S2CID
719:S2CID
649:S2CID
606:S2CID
562:S2CID
387:span.
363:. An
337:Types
299:cells
291:liver
214:MĂ©tis
164:exons
135:, or
1683:(to
1576:MeSH
1565:OMIM
1554:9-CM
1462:PMID
1413:PMID
1346:PMID
1303:PMID
1239:PMID
1221:ISSN
1178:ISBN
1139:PMID
1079:PMID
1044:PMID
1009:PMID
951:PMID
908:PMID
823:PMID
711:PMID
641:PMID
598:PMID
554:PMID
500:PMID
321:HEXB
272:HEXB
266:and
260:gene
256:HEXB
1887:NCL
1859:To
1665:of
1616:796
1550:ICD
1535:ICD
1520:ICD
1495:at
1452:PMC
1444:doi
1403:PMC
1393:doi
1338:doi
1326:165
1295:doi
1229:PMC
1211:doi
1170:doi
1131:doi
1071:doi
1036:doi
1001:doi
997:318
943:doi
939:107
900:doi
813:PMC
703:doi
633:doi
590:doi
544:doi
492:doi
365:eye
316:DNA
305:),
216:in
131:),
48:or
1957::
1871::
1849::
1835::
1800::
1778::
1755::
1712::
1661::
1614::
1590::
1579::
1568::
1557::
1542::
1527::
1524:10
1460:.
1450:.
1438:.
1434:.
1411:.
1401:.
1391:.
1381:75
1379:.
1375:.
1352:.
1344:.
1336:.
1324:.
1301:.
1291:70
1289:.
1259:.
1237:.
1227:.
1219:.
1207:59
1205:.
1201:.
1176:.
1168:.
1145:.
1137:.
1127:27
1125:.
1077:.
1065:.
1042:.
1032:12
1030:.
1007:.
995:.
982:^
974:37
972:.
949:.
937:.
914:.
906:.
896:94
894:.
835:^
821:.
809:30
807:.
803:.
791:^
731:^
717:.
709:.
699:96
697:.
681:^
661:^
647:.
639:.
629:49
627:.
604:.
596:.
586:93
584:.
560:.
552:.
542:.
530:.
526:.
512:^
498:.
486:.
468:^
293:,
139:.
44:,
1936:)
1932:/
1928:(
1825:)
1816:(
1794:)
1785:(
1735:)
1721:(
1703:)
1699:(
1687:)
1673:)
1669:(
1651:e
1644:t
1637:v
1552:-
1537:-
1522:-
1512:D
1468:.
1446::
1440:2
1419:.
1395::
1387::
1360:.
1340::
1332::
1309:.
1297::
1274:.
1245:.
1213::
1186:.
1172::
1153:.
1133::
1110:.
1085:.
1073::
1067:3
1050:.
1038::
1015:.
1003::
957:.
945::
922:.
902::
878:.
857:.
829:.
770:.
749:.
725:.
705::
655:.
635::
612:.
592::
568:.
546::
538::
532:4
506:.
494::
488:7
20:)
Text is available under the Creative Commons Attribution-ShareAlike License. Additional terms may apply.
