2236:
2266:
2276:
50:
2256:
2246:
816:
407:
Depending on ethnicity and geography, prevalence has been estimated to be between 1 in 40,000 and 1 in 300,000; based on these estimates the disease may be underdiagnosed. Jewish infants of Iraqi or
Iranian origin appear to be most at risk based on a study of a community in Los Angeles in which there
313:
Lysosomal acid lipase deficiencies occur when a person has defects (mutations) in both copies of the LIPA gene. Each parent of a person with LAL deficiency carries one copy of the defective LIPA gene. With every pregnancy, parents with a son or daughter affected by LAL deficiency have a 1 in 4 (25%)
346:
Because LAL deficiency is inherited, each sibling of an affected individual has a 25% chance of having pathological mutations in LAL genes from both their mother and their father, a 50% chance of having a pathological mutation in only one gene, and a 25% chance of having no pathological mutations.
398:
Infants with LAL deficiencies typically show signs of disease in the first weeks of life and if untreated, die within 6–12 months due to multi-organ failure. Older children or adults with LAL-D may remain undiagnosed or be misdiagnosed until they die early from a heart attack or stroke or die
379:
Before the drug was approved, treatment of infants was mainly focused on reducing specific complications and was provided in specialized centers. Specific interventions for infants included changing from breast or normal bottle formula to a specialized low fat formula, intravenous feeding,
337:
Liver biopsy findings will generally show a bright yellow-orange color, enlarged, lipid-laden hepatocytes and
Kupffer cells, microvesicular and macrovesicular steatosis, fibrosis, and cirrhosis. The only definitive tests are genetic, which may be conducted in any number of ways.
445:, was approved in the US and EU for the treatment of human LAL enzyme deficiency. Before the approval of that drug, as of 2009 the two oldest survivors of LAL-D in the world were then aged 4 and 11; both of them had been treated with hematopoietic stem cell treatment.
947:
Tolar, J.; Petryk, A.; Khan, K.; Bjoraker, K. J.; Jessurun, J.; Dolan, M.; Kivisto, T.; Charnas, L.; Shapiro, E. G. (2009-01-01). "Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease".
305:
that the body can reuse; when LAL doesn't function, cholesteryl esters and triglycerides build up in the liver, spleen and other organs. The accumulation of fat in the walls of the gut and other organs in leads to serious digestive problems including
420:, along with two other doctors, published the first case study of a LAL deficiency in a child born to closely related Persian Jews; 12 years later a case study on an older boy was published, which turned out to be the first case study of LAL-D.
399:
suddenly of liver failure. The first enzyme replacement therapy was approved in 2015. In those clinical trials nine infants were followed for one year; 6 of them lived beyond one year. Older children and adults were followed for 36 weeks.
129:) in the body. Infants, children and adults that have LAL deficiency experience a range of serious health problems. The lack of the LAL enzyme can lead to a build-up of fatty material in a number of body organs including the
371:
of LAL that was approved in 2015 in the US and EU. The disease of LAL affects < 0.2 in 10,000 people in the EU. According to an estimate by a
Barclays analyst, the drug will be priced at about US$ 375,000 per year.
512:
Reiner, Željko; Guardamagna, Ornella; Nair, Devaki; Soran, Handrean; Hovingh, Kees; Bertolini, Stefano; Jones, Simon; Ćorić, Marijana; Calandra, Sebastiano; Hamilton, John; Eagleton, Terence; Ros, Emilio (July 2014).
1037:
1018:
310:, a condition in which the gut fails to absorb nutrients and calories from food, persistent and often forceful vomiting, frequent diarrhea, foul-smelling and fatty stools (steatorrhea), and failure to grow.
375:
It is administered once a week via intraveneous infusion in people with rapidly progressing disease in the first six months of life. In people with less aggressive disease, it is given every other week.
222:
in about half of infants with LAL-D. Complications of LAL-D progress over time, eventually leading to life-threatening problems such as extremely low levels of circulating red blood cells (severe
233:
Older children or adults generally present with a wide range of signs and symptoms that overlap with other disorders. They may have diarrhoea, stomach pain, vomiting, or poor growth, a sign of
1133:
334:, including elevated total cholesterol, elevated low-density lipoprotein cholesterol, decreased high-density lipoprotein cholesterol and elevated serum transaminases.
206:
As the disease progresses in infants, increasing fat accumulation in the liver leads to other complications including yellowing of the skin and whites of the eyes (
253:, usually around their eyelids. The disease is often undiagnosed in adults. The person may have a history of premature cardiac disease or premature stroke.
782:
285:
protein (also called lysosomal acid lipase or LAL), that results in a loss of the protein's normal function. When LAL functions normally, it breaks down
17:
1160:
880:
386:
were used in people with LAL-D prior to the approval of sebelipase alfa; they helped control cholesterol but did not appear to slow liver damage;
314:
chance of having another affected child. A person born with defects in both LIPA genes is not able to produce adequate amounts of the LAL enzyme.
148:
Very low levels of the LAL enzyme lead to LAL deficiency. LAL deficiency typically affects infants in the first year of life. The accumulation of
164:
from food. Because of these digestive complications, affected infants usually fail to grow and gain weight at the expected rate for their age (
675:. 2015 Jul 30. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews . Seattle (WA): University of Washington, Seattle; 1993-2016.
647:
461:, to try to prevent the disease from getting worse. Data are sparse but there is a known high risk of serious complications including death,
1138:
355:
of pregnancies for women who are at increased risk are possible if family members carrying pathological mutations have been identified.
1765:
1297:
2315:
2106:
1405:
1705:
454:
2310:
1153:
2005:
1052:
179:
Until 2015, there was no treatment, and very few infants with LAL-D survived beyond the first year of life. In 2015, an
2141:
1483:
1436:
2305:
1302:
1177:
1146:
687:"Cholesteryl ester storage disease: Review of the findings in 135 reported patients with an underdiagnosed disease"
434:
Around 2010 both presentations have come to be known as LAL-D, as both are due to a deficiency of the LAL enzyme.
1410:
2259:
2131:
1565:
1431:
1397:
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786:
1352:
812:
331:
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598:
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686:
380:
antibiotics for infections, and steroid replacement therapy because of concerns about adrenal function.
1735:
1173:
438:
270:
180:
110:
2164:
1169:
515:"Lysosomal acid lipase deficiency – An under-recognized cause of dyslipidaemia and liver dysfunction"
462:
274:
599:"Lysosomal acid lipase deficiency--an under-recognized cause of dyslipidaemia and liver dysfunction"
1956:
1878:
1873:
1793:
1553:
1293:
1063:
1936:
1910:
294:
2300:
1528:
1476:
1450:
1181:
845:
Abramov A, Schorr S, Wolman M (Mar 1956). "Generalized xanthomatosis with calcified adrenals".
458:
2179:
2065:
2038:
2011:
1963:
1917:
1612:
1263:
1238:
874:
387:
368:
152:
in the walls of the gut in early onset disease leads to serious digestive problems including
2199:
2159:
2026:
1840:
1835:
1815:
1750:
1602:
1312:
200:
615:
531:
514:
8:
2279:
2221:
2204:
1863:
1580:
1041:
926:"FDA approves first drug to treat a rare enzyme disorder in pediatric and adult patients"
858:
266:
107:
58:
685:
Bernstein, Donna L.; HĂĽlkova, Helena; Bialer, Martin G.; Desnick, Robert J. (Jun 2013).
2169:
2126:
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2016:
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973:
965:
862:
759:
708:
630:
546:
169:
165:
122:
70:
985:
2249:
1941:
1926:
1803:
1678:
1634:
1308:
1233:
1190:
957:
907:
854:
749:
739:
698:
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536:
526:
482:
302:
282:
114:
75:
895:
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2214:
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1983:
1978:
1922:
1900:
1597:
1543:
1523:
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911:
442:
364:
348:
262:
184:
672:
199:
Infants may present with feeding difficulties with frequent vomiting, diarrhea,
2101:
2055:
1868:
1798:
1617:
1444:
1415:
1383:
1361:
1333:
1211:
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833:
828:
703:
1031:
1027:
2294:
2184:
1973:
1968:
1830:
1770:
1673:
1286:
1278:
1267:
969:
430:
Cholesteryl Ester
Storage Disease, presenting in pediatric and adult patients
327:
307:
290:
234:
219:
215:
173:
153:
2189:
2174:
2000:
1725:
1575:
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1328:
977:
866:
763:
712:
550:
417:
246:
142:
126:
744:
727:
634:
187:, was approved in the US and EU. The therapy was additionally approved in
2048:
1993:
1890:
1745:
1720:
1538:
1371:
1220:
1206:
961:
754:
298:
250:
242:
238:
62:
1010:
728:"A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency"
2136:
2021:
1988:
1760:
1710:
1695:
1690:
1683:
1668:
1658:
625:
541:
211:
121:. This enzyme plays an important role in breaking down fatty material (
79:
2209:
1951:
1946:
1810:
1788:
1663:
1627:
1343:
1323:
1255:
138:
1715:
1492:
1379:
1195:
1098:
227:
207:
157:
2194:
1654:
1622:
1515:
453:
Some children with LAL-D have had an experimental therapy called
383:
323:
161:
1128:
1123:
1057:
49:
1022:
223:
134:
118:
423:
LAL-D was historically referred to as two separate disorders:
844:
684:
241:, like itchiness, jaundice, pale stool, or dark urine. Their
188:
130:
1117:
168:). As the disease progresses, it can cause life-threatening
1461:
511:
149:
946:
226:), liver dysfunction or failure, and physical wasting (
203:, and failure to gain weight or sometimes weight loss.
896:"Newly recognized disorders of cholesterol metabolism"
815:
Last updated Dec 2015. See FDA index page for labels
113:
that results in the body not producing enough active
1000:
214:
examination shows accumulation of chalky material (
1134:Lipid Storage Diseases Fact Sheet at ninds.nih.gov
1129:Article - LYSOSOMAL ACID LIPASE DEFICIENCY/NIH.gov
726:Burton, B. K.; et al. (September 10, 2015).
667:
665:
663:
661:
659:
657:
655:
330:are generally similar to people with more common
2292:
592:
590:
588:
586:
584:
582:
580:
578:
576:
574:
572:
570:
568:
566:
564:
562:
560:
277:. The condition is caused by a mutation of the
156:, a condition in which the gut fails to absorb
893:
652:
1477:
1154:
783:"New Drugs Online Report for sebelipase alfa"
725:
427:Wolman disease, presenting in infant patients
251:yellowish deposits of fat underneath the skin
879:: CS1 maint: multiple names: authors list (
648:Learning Radiology.com Adrenal calcification
557:
1766:Reproductive endocrinology and infertility
1484:
1470:
1161:
1147:
785:. UK Medicines Information. Archived from
48:
2107:Bachelor of Medicine, Bachelor of Surgery
753:
743:
702:
671:Hoffman EP, Barr ML, Giovanni MA, et al.
624:
614:
540:
530:
1118:National Organization for Rare Disorders
596:
210:), and a persistent low-grade fever. An
1124:Article - LYSOSOMAL ACID LIPASE/NIH.gov
808:
806:
804:
507:
505:
503:
455:hematopoietic stem cell transplantation
14:
2293:
777:
775:
773:
448:
261:Lysosomal acid lipase deficiency is a
1465:
1142:
616:10.1016/j.atherosclerosis.2014.04.003
532:10.1016/j.atherosclerosis.2014.04.003
194:
2245:
2006:Physical medicine and rehabilitation
859:10.1001/archpedi.1956.02060020284010
801:
678:
500:
2255:
770:
363:LAL deficiency can be treated with
24:
18:Cholesterol esterification disorder
2142:Medical Scientist Training Program
940:
597:Reiner Ĺ˝; et al. (Jul 2014).
25:
2327:
1437:Cholesteryl ester storage disease
996:
2316:Diseases named after discoverers
2274:
2264:
2254:
2244:
2235:
2234:
1441:Lysosomal acid lipase deficiency
673:Lysosomal Acid Lipase Deficiency
390:was necessary in most patients.
96:Lysosomal acid lipase deficiency
33:Lysosomal acid lipase deficiency
2275:
918:
887:
838:
821:
732:New England Journal of Medicine
408:was a prevalence of 1 in 4200.
402:
351:for family members and genetic
243:feces may be excessively greasy
2132:Doctor of Osteopathic Medicine
1566:Oral and maxillofacial surgery
1432:Cerebrotendinous xanthomatosis
719:
641:
475:
249:, liver disease, and may have
13:
1:
2311:Autosomal recessive disorders
1353:Multiple sulfatase deficiency
468:
358:
332:familial hypercholesterolemia
2112:Bachelor of Medical Sciences
1879:Neurosurgical anesthesiology
1491:
1348:Metachromatic leukodystrophy
912:10.7326/0003-4819-58-4-718_1
393:
341:
317:
145:and other important organs.
7:
1411:Jansky–Bielschowsky disease
950:Bone Marrow Transplantation
10:
2332:
1170:Lysosomal storage diseases
704:10.1016/j.jhep.2013.02.014
439:enzyme replacement therapy
411:
271:inborn error of metabolism
181:enzyme replacement therapy
111:inborn error of metabolism
2230:
2152:
2090:
1851:
1779:
1734:
1643:
1514:
1499:
1424:
1396:
1369:
1321:
1276:
1253:
1204:
1189:
1089:
1004:
463:graft-versus-host disease
275:lysosomal storage disease
237:. They may have signs of
85:
69:
56:
47:
37:
32:
2066:Transplantation medicine
1957:Clinical neurophysiology
1874:Obstetric anesthesiology
1794:Interventional radiology
1554:Digestive system surgery
281:gene, which encodes the
256:
2306:Lipid storage disorders
1937:Intensive care medicine
1911:Mass gathering medicine
1756:Maternal–fetal medicine
1182:Lipid storage disorders
928:. FDA. December 8, 2015
894:Fredrickson DS (1963).
487:Genetics Home Reference
295:low density lipoprotein
201:swelling of the abdomen
1529:Cardiothoracic surgery
1451:Sea-blue histiocytosis
459:bone marrow transplant
457:(HSCT), also known as
2180:Personalized medicine
2039:Reproductive medicine
1964:Occupational medicine
1918:Evolutionary medicine
1264:Globotriaosylceramide
813:Sebelipase alfa Label
745:10.1056/NEJMoa1501365
691:Journal of Hepatology
388:liver transplantation
322:Blood tests may show
115:lysosomal acid lipase
2200:Traditional medicine
2160:Alternative medicine
2027:Addiction psychiatry
1841:Transfusion medicine
1836:Medical microbiology
1751:Gynecologic oncology
1603:Reproductive surgery
1294:Niemann–Pick disease
962:10.1038/bmt.2008.273
297:particles into free
2222:History of medicine
2205:Veterinary medicine
2012:Preventive medicine
1864:Adolescent medicine
1706:Infectious diseases
449:Research directions
267:autosomal recessive
108:autosomal recessive
59:autosomal recessive
2170:Molecular oncology
2127:Doctor of Medicine
2117:Master of Medicine
2034:Radiation oncology
1906:Emergency medicine
1859:Addiction medicine
1826:Clinical chemistry
1821:Clinical pathology
1613:Transplant surgery
1571:Orthopedic surgery
1549:Colorectal surgery
1358:Galactocerebroside
1230:GM2 gangliosidoses
1225:GM1 gangliosidoses
1090:External resources
353:prenatal diagnosis
287:cholesteryl esters
245:. They often have
239:bile duct problems
195:Symptoms and signs
123:cholesteryl esters
2288:
2287:
2122:Master of Surgery
2086:
2085:
2071:Tropical medicine
2017:Prison healthcare
1932:Hospital medicine
1896:Disaster medicine
1886:Aviation medicine
1701:Hospital medicine
1608:Surgical oncology
1593:Pediatric surgery
1587:
1534:Endocrine surgery
1459:
1458:
1392:
1391:
1313:Gaucher's disease
1239:Tay–Sachs disease
1113:
1112:
738:(11): 1010–1020.
247:an enlarged liver
170:liver dysfunction
166:failure to thrive
141:, in the wall of
93:
92:
27:Medical condition
16:(Redirected from
2323:
2278:
2277:
2268:
2258:
2257:
2248:
2247:
2238:
2237:
1942:Medical genetics
1927:General practice
1804:Nuclear medicine
1679:Gastroenterology
1635:Vascular surgery
1585:
1512:
1511:
1486:
1479:
1472:
1463:
1462:
1309:Glucocerebroside
1298:SMPD1-associated
1234:Sandhoff disease
1202:
1201:
1191:Sphingolipidoses
1178:lipid metabolism
1163:
1156:
1149:
1140:
1139:
1002:
1001:
990:
989:
944:
938:
937:
935:
933:
922:
916:
915:
891:
885:
884:
878:
870:
842:
836:
825:
819:
810:
799:
798:
796:
794:
789:on March 4, 2016
779:
768:
767:
757:
747:
723:
717:
716:
706:
697:(6): 1230–1243.
682:
676:
669:
650:
645:
639:
638:
628:
618:
594:
555:
554:
544:
534:
509:
498:
497:
495:
494:
483:"Wolman disease"
479:
369:recombinant form
303:free fatty acids
283:lysosomal lipase
76:Medical Genetics
52:
30:
29:
21:
2331:
2330:
2326:
2325:
2324:
2322:
2321:
2320:
2291:
2290:
2289:
2284:
2226:
2215:Chief physician
2148:
2093:
2082:
2076:Travel medicine
2061:Sports medicine
2044:Sexual medicine
1984:Palliative care
1979:Pain management
1923:Family medicine
1901:Diving medicine
1847:
1775:
1737:
1730:
1646:
1639:
1598:Plastic surgery
1544:General surgery
1524:Cardiac surgery
1505:
1503:
1495:
1490:
1460:
1455:
1420:
1388:
1365:
1326:
1317:
1272:
1268:Fabry's disease
1249:
1209:
1193:
1185:
1167:
1114:
1109:
1108:
1085:
1084:
1013:
999:
994:
993:
945:
941:
931:
929:
924:
923:
919:
892:
888:
872:
871:
847:AMA J Dis Child
843:
839:
826:
822:
811:
802:
792:
790:
781:
780:
771:
724:
720:
683:
679:
670:
653:
646:
642:
603:Atherosclerosis
595:
558:
519:Atherosclerosis
510:
501:
492:
490:
481:
480:
476:
471:
451:
443:sebelipase alfa
414:
405:
396:
365:sebelipase alfa
361:
349:Genetic testing
344:
320:
263:genetic disease
259:
197:
185:sebelipase alfa
28:
23:
22:
15:
12:
11:
5:
2329:
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2313:
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2303:
2286:
2285:
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2272:
2262:
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2224:
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2207:
2202:
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2192:
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2177:
2172:
2167:
2162:
2156:
2154:
2153:Related topics
2150:
2149:
2147:
2146:
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2144:
2134:
2129:
2124:
2119:
2114:
2109:
2104:
2102:Medical school
2098:
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2079:
2078:
2068:
2063:
2058:
2056:Sleep medicine
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2036:
2031:
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2019:
2014:
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1971:
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1869:Anesthesiology
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1861:
1855:
1853:
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1848:
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1845:
1844:
1843:
1838:
1833:
1828:
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1801:
1799:Neuroradiology
1796:
1785:
1783:
1777:
1776:
1774:
1773:
1768:
1763:
1758:
1753:
1748:
1742:
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1736:Obstetrics and
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1713:
1708:
1703:
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1632:
1631:
1630:
1620:
1618:Trauma surgery
1615:
1610:
1605:
1600:
1595:
1590:
1589:
1588:
1581:Otolaryngology
1578:
1573:
1568:
1563:
1558:
1557:
1556:
1551:
1541:
1536:
1531:
1526:
1520:
1518:
1509:
1507:subspecialties
1497:
1496:
1489:
1488:
1481:
1474:
1466:
1457:
1456:
1454:
1453:
1448:
1445:Wolman disease
1434:
1428:
1426:
1422:
1421:
1419:
1418:
1416:Batten disease
1413:
1408:
1402:
1400:
1394:
1393:
1390:
1389:
1387:
1386:
1384:Farber disease
1376:
1374:
1367:
1366:
1364:
1362:Krabbe disease
1355:
1350:
1341:
1339:
1338:
1337:
1334:leukodystrophy
1319:
1318:
1316:
1315:
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1251:
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1236:
1227:
1217:
1215:
1212:gangliosidoses
1199:
1187:
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1158:
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1137:
1136:
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1071:
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1009:
1008:
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1005:Classification
998:
997:External links
995:
992:
991:
939:
917:
900:Ann Intern Med
886:
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718:
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651:
640:
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404:
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395:
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360:
357:
343:
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328:lipid profiles
319:
316:
273:that causes a
258:
255:
196:
193:
100:LAL deficiency
91:
90:
87:
83:
82:
73:
67:
66:
54:
53:
45:
44:
42:Wolman disease
39:
35:
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26:
9:
6:
4:
3:
2:
2328:
2317:
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2309:
2307:
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2301:Rare diseases
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2185:Public health
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2165:Allied health
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1980:
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1974:Oral medicine
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1969:Ophthalmology
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1831:Cytopathology
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1771:Urogynecology
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1674:Endocrinology
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1291:phospholipid:
1288:
1287:Sphingomyelin
1285:
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1279:sphingomyelin
1275:
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1197:
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1179:
1175:
1174:Inborn errors
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876:
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848:
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835:
834:Who Named It?
831:
830:
824:
818:
814:
809:
807:
805:
788:
784:
778:
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774:
765:
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755:11577/3168673
751:
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329:
325:
315:
311:
309:
308:malabsorption
304:
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296:
292:
291:triglycerides
288:
284:
280:
276:
272:
268:
264:
254:
252:
248:
244:
240:
236:
235:malabsorption
231:
229:
225:
221:
220:adrenal gland
217:
216:calcification
213:
209:
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202:
192:
190:
186:
182:
177:
175:
174:liver failure
171:
167:
163:
159:
155:
154:malabsorption
151:
146:
144:
143:blood vessels
140:
136:
132:
128:
127:triglycerides
124:
120:
116:
112:
109:
105:
101:
97:
88:
84:
81:
77:
74:
72:
68:
64:
60:
57:LAL-D has an
55:
51:
46:
43:
40:
36:
31:
19:
2190:Rural health
2175:Nanomedicine
1726:Rheumatology
1657: /
1576:Hand surgery
1561:Neurosurgery
1440:
1329:sulfatidoses
1290:
1097:
1073:
1062:
1051:
1036:
1017:
956:(1): 21–27.
953:
949:
942:
932:December 10,
930:. Retrieved
920:
903:
899:
889:
875:cite journal
853:(3): 282–6.
850:
846:
840:
827:
823:
793:December 10,
791:. Retrieved
787:the original
735:
731:
721:
694:
690:
680:
643:
609:(1): 21–30.
606:
602:
525:(1): 21–30.
522:
518:
491:. Retrieved
489:. 2016-03-21
486:
477:
452:
436:
433:
422:
418:Moshe Wolman
415:
406:
403:Epidemiology
397:
382:
378:
374:
362:
345:
336:
321:
312:
278:
260:
232:
205:
198:
178:
147:
103:
99:
95:
94:
41:
2260:Wikiproject
2049:Venereology
1994:Neonatology
1891:Dermatology
1746:Gynaecology
1738:gynaecology
1721:Pulmonology
1539:Eye surgery
1501:Specialties
1372:sphingosine
1221:Ganglioside
1207:ganglioside
626:2318/154122
542:2318/154122
437:In 2015 an
299:cholesterol
269:. It is an
86:Usual onset
63:inheritance
61:pattern of
38:Other names
2295:Categories
2022:Psychiatry
2008:(PM&R)
2001:Phlebology
1989:Pediatrics
1816:Anatomical
1781:Diagnostic
1761:Obstetrics
1711:Nephrology
1696:Hematology
1691:Geriatrics
1684:Hepatology
1669:Cardiology
1659:Immunology
1244:AB variant
1075:DiseasesDB
906:(4): 718.
493:2016-03-25
469:References
359:Management
326:and their
212:ultrasound
89:congenital
80:Hepatology
2210:Physician
2094:education
1952:Neurology
1947:Narcology
1811:Pathology
1789:Radiology
1664:Angiology
1628:Andrology
1406:Infantile
1344:Sulfatide
1324:sulfatide
1256:globoside
970:1476-5365
829:synd/3122
416:In 1956,
394:Prognosis
342:Screening
318:Diagnosis
218:) in the
191:in 2016.
158:nutrients
71:Specialty
2240:Category
1716:Oncology
1647:medicine
1645:Internal
1493:Medicine
1380:Ceramide
1196:ceramide
1099:Orphanet
986:19347350
978:18776925
867:13301142
764:26352813
713:23485521
551:24792990
265:that is
228:cachexia
208:jaundice
162:calories
106:) is an
2280:Outline
2250:Commons
2195:Therapy
2092:Medical
1655:Allergy
1623:Urology
1516:Surgery
1069:D015223
635:2479299
412:History
384:Statins
324:anaemia
2270:Portal
2137:MD–PhD
1303:type C
1120:(NORD)
1104:275761
1058:278000
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224:anemia
135:spleen
119:enzyme
117:(LAL)
1852:Other
1425:Other
1322:From
1277:From
1254:From
1205:From
1080:31220
1047:272.7
1032:E75.6
1028:E75.5
982:S2CID
257:Cause
189:Japan
131:liver
104:LAL-D
1194:(to
1064:MeSH
1053:OMIM
1042:9-CM
974:PMID
966:ISSN
934:2015
881:link
863:PMID
817:here
795:2015
760:PMID
709:PMID
631:PMID
547:PMID
367:, a
301:and
289:and
279:LIPA
160:and
125:and
1586:ENT
1504:and
1398:NCL
1370:To
1176:of
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1019:ICD
958:doi
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855:doi
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750:hdl
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293:in
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