{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T22:55:00Z","timestamp":1792018500262,"version":"4.4.0"},"reference-count":36,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2020,4,4]],"date-time":"2020-04-04T00:00:00Z","timestamp":1585958400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2020,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>Lysosomal disorders are diseases that involve mutations in genes responsible for the coding of lysosomal enzymes, transport proteins, activator proteins and protein processing enzymes. These defects lead to the storage of specific metabolites within lysosomes resulting in a great variety of clinical features depending on the tissues with the storage, the storage products and the extent of the storage. The methods for rapidly diagnosing patients started in the late 1960's when the enzyme defects were identified eliminating the need for tissue biopsies. The first requests for diagnostic help in this laboratory came in 1973. In that year, patients with Krabbe disease and Niemann\u2010Pick type A were diagnosed. Since that time samples from about 62\u2009000 individuals have been received for diagnostic studies, and 4900 diagnoses have been made. The largest number of diagnosed individuals had metachromatic leukodystrophy and Krabbe disease because of our research interest in leukodystrophies. A number of new disorders were identified and the primary defects in other disorders were clarified. With new methods for diagnosis, including newborn screening, molecular analysis, microarrays, there is still a need for biochemical confirmation before treatment is considered. With new treatments, including gene therapy, stem cell transplantation, enzyme replacement used alone or in combination becoming more available, the need for rapid, accurate diagnosis is critical.<\/jats:p>","DOI":"10.1002\/jmd2.12117","type":"journal-article","created":{"date-parts":[[2020,4,4]],"date-time":"2020-04-04T09:41:19Z","timestamp":1585993279000},"page":"61-67","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":3,"title":["The Lysosomal Diseases Testing Laboratory: A review of the past 47\u2009years"],"prefix":"10.1002","volume":"54","author":[{"given":"David A.","family":"Wenger","sequence":"first","affiliation":[{"name":"Department of Neurology Sidney Kimmel College of Medicine at Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Luzi","sequence":"additional","affiliation":[{"name":"Department of Neurology Sidney Kimmel College of Medicine at Thomas Jefferson University  Philadelphia Pennsylvania USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2020,4,4]]},"reference":[{"key":"e_1_2_7_2_1","first-page":"56","article-title":"Deficiency in degradative enzyme system in globoid leucodystrophy","volume":"1","author":"Malone M","year":"1970","journal-title":"Tran Am Soc Neurochem"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.66.2.302"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1182\/blood.V11.5.436.436"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1590\/1678-4685-gmb-2016-0268"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.170.3957.556"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1145196"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1984.tb01066.x"},{"key":"e_1_2_7_9_1","first-page":"551","article-title":"Juvenile GM2 gangliosidosis (AMB variant): Inability to activate hexosaminidase A by activator protein","volume":"35","author":"Inui K","year":"1983","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.3.438"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(69)80387-2"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(74)90173-1"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/257060a0"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1980.tb00158.x"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.1976.tb02272.x"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(78)90915-4"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01790104"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(19)69384-1"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198611063151906"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1990.tb19167.x"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380040305"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00710424"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.5.1913"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80650-1"},{"key":"e_1_2_7_25_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)82010-4"},{"key":"e_1_2_7_26_1","first-page":"587","volume-title":"Techniques in Diagnostic Human Biochemical Genetics. 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