{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,21]],"date-time":"2026-09-21T00:07:54Z","timestamp":1789949274963,"version":"4.0.1"},"reference-count":50,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[1990,7,1]],"date-time":"1990-07-01T00:00:00Z","timestamp":646790400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[1990,7]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>This review describes clinical, biochemical and genetic features of the four inborn errors affecting muscle glycogen breakdown, namely deficiencies of phosphorylase, phosphorylase kinase, amylo\u20101,6\u2010glucosidase and acid \u03b1\u2010glucosidase. They are characterized by a wide spectrum of clinical manifestation, affecting age of onset, clinical features, progress of disease and tissue involvement. Biochemically, variability of all four enzyme deficiencies is evident in terms of differences in residual enzyme present in tissues, and in the presence or absence of enzyme protein. Genetic heterogeneity, which has been documented in each of the enzyme deficiencies, manifests itself in terms of the presence, absence, quantity or size of mRNA. In phosphorylase deficiency heterogeneity has also been documented at the DNA level. In acid maltase deficiency nine mutant phenotypes have been described affecting various stages of lysosomal enzyme processing.<\/jats:p>","DOI":"10.1007\/bf01799503","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T14:02:35Z","timestamp":1119362555000},"page":"452-465","source":"Crossref","is-referenced-by-count":9,"title":["Muscle glycogenosis"],"prefix":"10.1002","volume":"13","author":[{"given":"S. W.","family":"Moses","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Faculty of Health Sciences Ben Gurion University of the Negev  Beer\u2010Sheva 84101 Israel"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[1990,7]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.36.4.560"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.2.316"},{"key":"e_1_2_1_4_1","first-page":"231","article-title":"Restriction enzyme analysis of McArdle's syndrome gene locus","volume":"9","author":"Anderson L.","year":"1986","journal-title":"Muscle and Nerve"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.11.1720"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198104000-00002"},{"key":"e_1_2_1_7_1","first-page":"224","article-title":"Glycogen storage disease type II in Israel","volume":"24","author":"Bashan N.","year":"1988","journal-title":"Isr. J. Med. Sci."},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)47485-6"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/prot.340020303"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.29.3.415"},{"key":"e_1_2_1_11_1","first-page":"1002","article-title":"Glycogen debranching enzyme: Purification, antibody characterisation, and immunoblot analysis of type III glycogen storage disease","volume":"41","author":"Chen Y. T.","year":"1987","journal-title":"Am. J. Hum. Genet."},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1976.00500090042008"},{"key":"e_1_2_1_13_1","first-page":"1153","article-title":"Glycogenose musculaire pare deficit d'alpha\u20101,4\u2010glucosidase simulant une dystrophy musculaire progressive","volume":"22","author":"Courtecuisse V.","year":"1965","journal-title":"Arch. Franc. Pediatr."},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-1809.1983.tb00977.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.28.11.1124"},{"key":"e_1_2_1_16_1","first-page":"1585","volume-title":"Myology","author":"DiMauro S.","year":"1986"},{"key":"e_1_2_1_17_1","first-page":"140","article-title":"Cloning of cDNA for human muscle glycogen debrancher, the enzyme deficient in type III glycogen storage disease","volume":"25","author":"Ding J. H.","year":"1989","journal-title":"Pediatr. Res."},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.4.663"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.23.1.95"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM196301172680306"},{"key":"e_1_2_1_21_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI112794"},{"key":"e_1_2_1_22_1","first-page":"197","volume-title":"Lysosomes and Storage Diseases","author":"Hers H. G.","year":"1973"},{"key":"e_1_2_1_23_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI106028"},{"key":"e_1_2_1_24_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.35.1.C1"},{"key":"e_1_2_1_25_1","first-page":"1653","volume-title":"Myology","author":"Illingworth\u2010Brown B.","year":"1986"},{"key":"e_1_2_1_26_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.6587566"},{"key":"e_1_2_1_27_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(80)91535-1"},{"key":"e_1_2_1_28_1","doi-asserted-by":"publisher","DOI":"10.1152\/jappl.1986.61.2.391"},{"key":"e_1_2_1_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799482"},{"key":"e_1_2_1_30_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.83.24.9641"},{"key":"e_1_2_1_31_1","first-page":"13","article-title":"Myopathy due to a defect of muscle glycogen breakdown","volume":"24","author":"McArdle B.","year":"1951","journal-title":"Clin. Sci."},{"key":"e_1_2_1_32_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198707093170203"},{"key":"e_1_2_1_33_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(84)80288-0"},{"key":"e_1_2_1_34_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1651-2227.1986.tb10201.x"},{"key":"e_1_2_1_35_1","first-page":"1","article-title":"Cardiac involvement in glycogen storage disease type III","volume":"431","author":"Moses S. W.","year":"1989","journal-title":"Eur. J. Pediatr."},{"key":"e_1_2_1_36_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.8.833"},{"key":"e_1_2_1_37_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113008"},{"key":"e_1_2_1_38_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.37.9.1558"},{"key":"e_1_2_1_39_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410240612"},{"key":"e_1_2_1_40_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(88)80535-3"},{"key":"e_1_2_1_41_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198502073120607"},{"key":"e_1_2_1_42_1","doi-asserted-by":"publisher","DOI":"10.1016\/0026-0495(83)90159-2"},{"key":"e_1_2_1_43_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.1.34"},{"key":"e_1_2_1_44_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(84)80075-X"},{"key":"e_1_2_1_45_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(89)90012-X"},{"key":"e_1_2_1_46_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.50.5.587"},{"key":"e_1_2_1_47_1","doi-asserted-by":"publisher","DOI":"10.1016\/0167-4781(87)90064-9"},{"key":"e_1_2_1_48_1","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198807000-00021"},{"key":"e_1_2_1_49_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1967.tb00134.x"},{"key":"e_1_2_1_50_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197304122881507"},{"key":"e_1_2_1_51_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198602063140611"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799503","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799503","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,17]],"date-time":"2023-09-17T02:46:55Z","timestamp":1694918815000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1990,7]]},"references-count":50,"journal-issue":{"issue":"4","published-print":{"date-parts":[[1990,7]]}},"alternative-id":["10.1007\/BF01799503"],"URL":"https:\/\/doi.org\/10.1007\/bf01799503","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1990,7]]}}}