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- W2022195677 abstract "A small group of inborn errors of metabolism are manifested by intermittent cerebellar ataxia. We have previously reported a family with an inherited metabolic defect resulting in multiple carboxylase deficiencies which were responsive to pharmacological doses of biotin. Affected children presented with a skin rash, infections, acute intermittent ataxia, and lactic acidosis. Two affected siblings died prior to diagnosis and therapy, and a detailed postmortem examination was performed on one of them. The brain was characterized by atrophy restricted to the superior vermis of the cerebellum, a finding strikingly similar to that found in chronic alcoholism. Intermittent ataxia would suggest a potentially treatable metabolic disease, and clinical evaluation should include studies of intermediary metabolism and immune function." @default.
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- W2022195677 date "1980-11-01" @default.
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- W2022195677 title "Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: A biotin-responsive disorder" @default.
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- W2022195677 doi "https://doi.org/10.1002/ana.410080514" @default.
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