Clinical and laboratory findings in four patients with the non-progressive hepatic form of type IV glycogen storage disease

Author:

McConkie-Rosell A.,Wilson C.,Piccoli D. A.,Boyle J.,De Clue T.,Kishnani P.,Shen J.-J.,Boney A.,Brown B.,Chen Y. T.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference19 articles.

1. Bao Y, Kishnani P, Tang TT, Harris DJ, Chen Y-T (1994) Identification of mutations in type IV glycogen storage disease.Am J Hum Genet 55: A4.

2. Brown BI, Brown DH (1989) Branching enzyme activity of cultured amniocytes and chorionic villi: prenatal testing for type IV glycogen storage disease.Am J Hum Genet 44: 378–381.

3. Brown DH, Brown BI (1983) 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 111: 636–643.

4. Bruno C, Servidei S, Shanske S, et al (1993) Glycogen branching enzyme deficiency in adult polyglucosan body disease.Ann Neurol 33: 88–93.

5. Chen YT, Burchell A (1995) Glycogen storage diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 935–965.

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