Am J Clin Pathol. 1976 Oct;66(4):702-9.

Type IV glycogen-storage disease. Light-microscopic, electron-microscopic, and enzymatic study.

Abstract

The case of a 14-month-old Latin American girl with the diagnosis of Type IV glycogen-storage disease is reported. The diagnosis was reached on the basis of the typical clinical manifestations, the light- and electron-microscopic findings, and the demonstration of absence of the branching enzyme alpha-1,4-glucan:alpha-1,4-glucan 6-glucosyl transferase in the liver and in the cultured skin fibroblasts.

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[A study of the abnormal polysaccharide in a child with type IV glycogen storage disease (author's transl)]. [Arch Fr Pediatr. 1981]
[A study of the abnormal polysaccharide in a child with type IV glycogen storage disease (author's transl)].
Scotto JM, de Barsy T, Hadchouel M, Bernard O. Arch Fr Pediatr. 1981 Dec; 38 Suppl 1:837-41.
Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease. [Am J Hum Genet. 1989]
Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.
Brown BI, Brown DH. Am J Hum Genet. 1989 Mar; 44(3):378-81.
Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease. [Biochem Biophys Res Commun. 1983]
Studies of the residual glycogen branching enzyme activity present in human skin fibroblasts from patients with type IV glycogen storage disease.
Brown DH, Brown BI. Biochem Biophys Res Commun. 1983 Mar 16; 111(2):636-43.
Review The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies. [Curr Mol Med. 2002]
Review The variable presentations of glycogen storage disease type IV: a review of clinical, enzymatic and molecular studies.
Moses SW, Parvari R. Curr Mol Med. 2002 Mar; 2(2):177-88.
Review Glycogen metabolism and glycogen-storage diseases. [Physiol Rev. 1975]
Review Glycogen metabolism and glycogen-storage diseases.
Huijing F. Physiol Rev. 1975 Oct; 55(4):609-58.

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Cited by 3 PubMed Central articles

Unclassified polysaccharidosis of the heart and skeletal muscle in siblings. [Mol Genet Metab. 2008]
Unclassified polysaccharidosis of the heart and skeletal muscle in siblings.
Schoser B, Bruno C, Schneider HC, Shin YS, Podskarbi T, Goldfarb L, Müller-Felber W, Müller-Höcker J. Mol Genet Metab. 2008 Sep-Oct; 95(1-2):52-8. Epub 2008 Aug 8.
Liver transplantation for type I and type IV glycogen storage disease. [Eur J Pediatr. 1993]
Liver transplantation for type I and type IV glycogen storage disease.
Selby R, Starzl TE, Yunis E, Todo S, Tzakis AG, Brown BI, Kendall RS. Eur J Pediatr. 1993; 152 Suppl 1:S71-6.
Liver transplantation for type IV glycogen storage disease. [N Engl J Med. 1991]
Liver transplantation for type IV glycogen storage disease.
Selby R, Starzl TE, Yunis E, Brown BI, Kendall RS, Tzakis A. N Engl J Med. 1991 Jan 3; 324(1):39-42.

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