Reversible metabolic myopathy in biotinidase deficiency: its possible role in causing hypotonia

Author:

Bay C. A.,Berry G. T.,Glauser T. A.,Hayward J. C.,Wolf B.,Sladky J. T.,Kaplan P.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference4 articles.

1. Diamantopoulos N, Painter MJ, Wolf B, Heard GS, Roe C (1985) Biotinidase deficiency: accumulation of lactate in the brain and treatment with physiological doses of biotin.Ann Neurol 16: 385–387.

2. Wolf B, Heard GS (1989) Disorders of biotin metabolism. In Scriver CR, Beaudet EL, Sly WS, Valle D, eds.The Metabolic Basis of Inherited Disease, 6th edn. New York: McGraw-Hill, 2094.

3. Wolf B, Grier RE, Allen RJ, Goodman SI, Kien CL (1983) Biotinidase deficiency: an enzymatic defect in late onset multiple carboxylase deficiency.Clin Chim Acta 131: 273–281.

4. Wolf B, Heard GS, Weissbecker KA, Secor McVoy JR, Grier RE, Leshner RT (1985) Biotinidase deficiency: initial clinical features and rapid diagnosis.Ann Neurol. 18: 614–617.

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4. Biotinidase Deficiency: a Treatable Leukoencephalopathy;Neuropediatrics;2004-07

5. BIOTIN IN METABOLISM AND MOLECULAR BIOLOGY;Annual Review of Nutrition;2002-07

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