{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,19]],"date-time":"2025-10-19T05:50:44Z","timestamp":1760853044382},"reference-count":93,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":8256,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1982,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Inborn errors of metabolism often cause neurological dysfunction. These disorders are most common in childhood, but adult\u2010onset forms with a different clinical presentation are encountered, examples being Pompe disease, Tay\u2010Sachs disease, metachromatic leukodystrophy, Gaucher disease, and Maroteaux\u2010Lamy disease. In the evaluation of a patient with a possible inborn error of metabolism, simple screening tests may aid in the diagnosis and provide direction for more comprehensive laboratory analysis. In most cases, diagnosis can be established without a brain biopsy through biochemical variants of inherited metabolic disorders are being recognized through wider application of screening tests, improved specificity of laboratory analysis, cell complementation experiments, and the identification of enzyme activator factors. Accurate diagnosis is important for medical management, determining prognosis, and genetic counseling.<\/jats:p>","DOI":"10.1002\/ana.410110302","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T13:30:29Z","timestamp":1104586229000},"page":"221-232","source":"Crossref","is-referenced-by-count":32,"title":["Inborn errors of metabolism"],"prefix":"10.1002","volume":"11","author":[{"given":"Edwin H.","family":"Kolodny","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"William J. L.","family":"Cable","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.7.10.716"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(80)80734-7"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410040609"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI109247"},{"key":"e_1_2_1_6_2","doi-asserted-by":"crossref","first-page":"837","DOI":"10.1542\/peds.65.4.837","article-title":"Progress in phenylketonuria: defects in the metabolism of biopterin","volume":"65","author":"Berlow S","year":"1980","journal-title":"Pediatrics"},{"key":"e_1_2_1_7_2","first-page":"136","article-title":"A paper spot test useful in study of Hurler's syndrome","volume":"55","author":"Berry HK","year":"1960","journal-title":"J Lab Clin Med"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1159\/000114945"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.27.11.1057"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197607082950202"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1978.00500310077017"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(73)80136-2"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1542\/peds.61.3.398"},{"issue":"2","key":"e_1_2_1_14_2","first-page":"86","article-title":"HPLC analysis of urinary sediment glycolipids in obligate carriers of Fabry disease","volume":"31","author":"Cable WJL","year":"1981","journal-title":"Neurology (NY)"},{"key":"e_1_2_1_15_2","volume-title":"Lysosomes and Lysosomal Storage Diseases","author":"Callahan JW","year":"1981"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(68)80071-X"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.10.6166"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.75.8.3979"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0008-6215(00)80663-1"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410060605"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.40.6.588"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.30.8.860"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0005-2760(78)90053-X"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00273487"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1038\/257060a0"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/0968-0004(80)90162-0"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(78)50048-7"},{"key":"e_1_2_1_28_2","volume-title":"Practical Enzymology of the Sphingolipidoses","author":"Glew RH","year":"1977"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1159\/000114819"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.27.12.1107"},{"key":"e_1_2_1_31_2","first-page":"258","article-title":"Morquio syndrome (mucopolysaccharidosis IV B) associated with \u00df\u2010galactosidase deficiency. Report of two cases","volume":"32","author":"Groebe H","year":"1980","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_32_2","unstructured":"HahnAF GordonBA GilbertJJ et al: The AB\u2010variant of metachromatic leukodystrophy (postulated activator protein deficiency).Acta Neuropathol (Berl)(in press)"},{"key":"e_1_2_1_33_2","first-page":"218","article-title":"Metachromatic leukodystrophy without deficiency of arylsulfatase A","volume":"8","author":"Hahn AF","year":"1980","journal-title":"Ann Neurol"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(81)91177-3"},{"key":"e_1_2_1_35_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0003-2697(79)80131-1"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(75)90119-9"},{"key":"e_1_2_1_37_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1471-4159.1976.tb04461.x-i1"},{"key":"e_1_2_1_38_2","first-page":"31A","article-title":"Hexosaminidase A deficiency in early adulthood: a new type of GM2\u2010gangliosidosis","volume":"30","author":"Kaback M","year":"1978","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_39_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.5.2026"},{"key":"e_1_2_1_40_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI108860"},{"key":"e_1_2_1_41_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.30.5.502"},{"key":"e_1_2_1_42_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197510162931601"},{"key":"e_1_2_1_43_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(78)90584-3"},{"key":"e_1_2_1_44_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(77)80765-8"},{"key":"e_1_2_1_45_2","first-page":"1104","volume-title":"Hematology of Infancy and Childhood","author":"Kolodny EH","year":"1980"},{"key":"e_1_2_1_46_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(76)90426-5"},{"key":"e_1_2_1_47_2","first-page":"215","article-title":"AB variant of GM2 gangliosidosis: diagnosis by in vivo assay of GMM2 cleaving activity in cultured skin fibroblasts","volume":"8","author":"Kolodny EH","year":"1980","journal-title":"Ann Neurol"},{"key":"e_1_2_1_48_2","first-page":"173","article-title":"Ultrastructure of the skin in mucopolysaccharidoses","volume":"99","author":"Lasser A","year":"1975","journal-title":"Arch Pathol"},{"key":"e_1_2_1_49_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198011203032104"},{"key":"e_1_2_1_50_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.157.3790.804"},{"key":"e_1_2_1_51_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197009102831117"},{"key":"e_1_2_1_52_2","doi-asserted-by":"crossref","first-page":"10592","DOI":"10.1016\/S0021-9258(19)86559-6","article-title":"Evidence for the presence of two separate protein activators for the enzymatic hydrolysis of GM1 and GM2 gangliosides","volume":"254","author":"Li SC","year":"1979","journal-title":"J Biol Chem"},{"key":"e_1_2_1_53_2","first-page":"1","article-title":"Sialidosis: a review of human neuraminidase deficiency","volume":"31","author":"Lowden JA","year":"1979","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_54_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.41.3.232"},{"key":"e_1_2_1_55_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00688074"},{"key":"e_1_2_1_56_2","volume-title":"Mendelian Inheritance in Man","author":"McKusick VA","year":"1978"},{"key":"e_1_2_1_57_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.10.1241"},{"key":"e_1_2_1_58_2","first-page":"77","volume-title":"Enzyme Therapy in Genetic Disease","author":"Neufeld EF","year":"1980"},{"key":"e_1_2_1_59_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(79)90521-X"},{"key":"e_1_2_1_60_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90059-7"},{"key":"e_1_2_1_61_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1980.00500510050008"},{"key":"e_1_2_1_62_2","first-page":"595","article-title":"Ultrasturctural observations of cytoplasmic inclusions in Tay\u2010Sachs lymphocytes","volume":"100","author":"Noonan SM","year":"1976","journal-title":"Arch Pathol Lab Med"},{"key":"e_1_2_1_63_2","doi-asserted-by":"publisher","DOI":"10.1159\/000401562"},{"key":"e_1_2_1_64_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197308232890803"},{"key":"e_1_2_1_65_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(17)32755-2"},{"key":"e_1_2_1_66_2","doi-asserted-by":"publisher","DOI":"10.1159\/000114818"},{"key":"e_1_2_1_67_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1975.00490460066009"},{"key":"e_1_2_1_68_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1976.00500020048008"},{"key":"e_1_2_1_69_2","first-page":"1","article-title":"Vitamin\u2010responsive inherited metabolic disorders","volume":"6","author":"Rosenberg L","year":"1976","journal-title":"Adv Hum Genet"},{"key":"e_1_2_1_70_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9343(78)90235-8"},{"key":"e_1_2_1_71_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(77)90262-8"},{"key":"e_1_2_1_72_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.27.12.1114"},{"key":"e_1_2_1_73_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198012043032305"},{"key":"e_1_2_1_74_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197910000-00021"},{"key":"e_1_2_1_75_2","volume-title":"Laboratory Techniques for the Detection of Herediatary Metabolic Disorders","author":"Shih VE","year":"1973"},{"key":"e_1_2_1_76_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(79)90348-6"},{"key":"e_1_2_1_77_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(81)80142-8"},{"key":"e_1_2_1_78_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1979.tb01750.x"},{"key":"e_1_2_1_79_2","volume-title":"The Metabolic Basis of Inherited Disease","author":"Stanbury JB","year":"1978"},{"key":"e_1_2_1_80_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00688560"},{"key":"e_1_2_1_81_2","first-page":"900","article-title":"Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy","volume":"33","author":"Stevens RL","year":"1981","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_82_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1977.tb11540.x"},{"key":"e_1_2_1_83_2","doi-asserted-by":"publisher","DOI":"10.1038\/250580a0"},{"key":"e_1_2_1_84_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(76)90267-9"},{"key":"e_1_2_1_85_2","doi-asserted-by":"crossref","first-page":"1499","DOI":"10.1093\/clinchem\/26.10.1499","article-title":"Application of \u201chigh\u2010performance\u201d liquid chromatography to the study of sphingolipidoses","volume":"26","author":"Ullman MD","year":"1980","journal-title":"Clin Chem"},{"key":"e_1_2_1_86_2","doi-asserted-by":"publisher","DOI":"10.1042\/bj1700643"},{"key":"e_1_2_1_87_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197101142840221"},{"key":"e_1_2_1_88_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197111042851923"},{"key":"e_1_2_1_89_2","doi-asserted-by":"publisher","DOI":"10.1016\/0009-8981(81)90022-X"},{"key":"e_1_2_1_90_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.7.787"},{"key":"e_1_2_1_91_2","first-page":"194","article-title":"Dolichols in storage cytosomes and urine sediment of Batten disease cases","volume":"12","author":"Wolfe LS","year":"1981","journal-title":"Trans Am Soc Neurochem"},{"key":"e_1_2_1_92_2","first-page":"66","article-title":"Complementation analysis of the mucolipidoses demonstrates genetic heterogeneity","volume":"31","author":"Wright CE","year":"1979","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_93_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410080321"},{"key":"e_1_2_1_94_2","first-page":"663","article-title":"Normal limits of urinary coproporphyrin excretion determined by an improved method","volume":"41","author":"Zieve L","year":"1953","journal-title":"J Lab Clin Med"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410110302","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410110302","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T17:01:24Z","timestamp":1698944484000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410110302"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1982,3]]},"references-count":93,"journal-issue":{"issue":"3","published-print":{"date-parts":[[1982,3]]}},"alternative-id":["10.1002\/ana.410110302"],"URL":"https:\/\/doi.org\/10.1002\/ana.410110302","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1982,3]]}}}