{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T18:48:38Z","timestamp":1778179718189,"version":"3.51.4"},"reference-count":19,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[1995,7,6]],"date-time":"1995-07-06T00:00:00Z","timestamp":804988800000},"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":[[1996,1]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>The classic clinical presentation for type IV glycogen storage disease (branching enzyme deficiency, GSD IV) is hepatosplenomegaly with failure to thrive occurring in the first 18 months of life, followed by progressive liver failure and death by age 5 years. Although there have been two patients without apparent liver progression previously reported, no long\u2010term follow\u2010up clinical data have been available. We present here the clinical spectrum of the non\u2010progressive liver form of GSD IV in four patients, and long\u2010term follow\u2010up of the oldest identified patients (ages 13 and 20 years). None has developed progressive liver cirrhosis, skeletal muscle, cardiac or neurological involvement, and none has been transplanted. Branching enzyme activity was also measured in cultured skin fibroblasts from patients with the classic liver progressive, the early neonatal fatal, and the non\u2010progressive hepatic presentations of GSD IV. The residual branching enzyme activity in the patients without progression was not distinguishable from the other forms and could not be used to predict the clinical course. Our data indicate that GSD IV does not always necessitate hepatic transplantation and that caution should be used when counselling patients regarding the prognosis of GSD IV. Patients should be carefully monitored for evidence of progression before recommending liver transplantation.<\/jats:p>","DOI":"10.1007\/bf01799348","type":"journal-article","created":{"date-parts":[[2005,6,21]],"date-time":"2005-06-21T16:36:43Z","timestamp":1119371803000},"page":"51-58","source":"Crossref","is-referenced-by-count":49,"title":["Clinical and laboratory findings in four patients with the non\u2010progressive hepatic form of type IV glycogen storage disease"],"prefix":"10.1002","volume":"19","author":[{"given":"A.","family":"McConkie\u2010Rosell","sequence":"first","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center  Durham North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Wilson","sequence":"additional","affiliation":[{"name":"Pediatric Gastroenterology and Nutrition Kapiolani Medical Center for Women and Children  Honolulu Hawaii"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"D. A.","family":"Piccoli","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology and Nutrition Children's Hospital of Philadelphia  Philadelphia Pennsylvania"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Boyle","sequence":"additional","affiliation":[{"name":"Division of Pediatric Gastroenterology and Nutrition Rainbow Babies and Children's Hospital  Cleveland Ohio"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"De Clue","sequence":"additional","affiliation":[{"name":"University of South Florida  Tampa Florida"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P.","family":"Kishnani","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center  Durham North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.\u2010J.","family":"Shen","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center  Durham North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Boney","sequence":"additional","affiliation":[{"name":"Rankin Clinical Research Unit Duke University Medical Center  Durham North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.","family":"Brown","sequence":"additional","affiliation":[{"name":"Washington University School of Medicine  St. Louis Missouri USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Y. T.","family":"Chen","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Department of Pediatrics Duke University Medical Center  Durham North Carolina"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[1995,7,6]]},"reference":[{"key":"e_1_2_1_2_1","first-page":"A4","article-title":"Identification of mutations in type IV glycogen storage disease","volume":"55","author":"Bao Y","year":"1994","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_3_1","first-page":"378","article-title":"Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease","volume":"44","author":"Brown BI","year":"1989","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(83)90354-6"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410330114"},{"key":"e_1_2_1_6_1","first-page":"935","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Chen YT","year":"1995"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.71.5.450"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840080219"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00446059"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1097\/00005072-199405000-00004"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/adc.43.231.548"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410300505"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0387-7604(12)80277-4"},{"key":"e_1_2_1_14_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00334454"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199101033240107"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(87)80341-4"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF00294181"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)53204-X"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.3109\/15513819309048254"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(72)80144-6"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/BF01799348","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:28:14Z","timestamp":1694780894000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/BF01799348"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1995,7,6]]},"references-count":19,"journal-issue":{"issue":"1","published-print":{"date-parts":[[1996,1]]}},"alternative-id":["10.1007\/BF01799348"],"URL":"https:\/\/doi.org\/10.1007\/bf01799348","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[1995,7,6]]}}}