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J Biol Chem ; Metabolismo de la glucosa. En: Cheping N, editor. En: Stryer L, editor. Madrid-Barcelona: Reverte, S. Nat Genet ; Seventeen novel mutations that cause profound biotinidase deficiency. Mol Genet Metab ; Partial biotinidase deficiency is usually due to the DH mutation in the biotinidase gene. Hum Genet ; Double mutation[AT and DH] is common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
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Santiago de Chile: Universitaria. Biotinidase deficiency a treatable leukoencephalopathy. Neuropediatrics ; Optic Neuropathy in biotinidase deficiency.
Arch Soc Esp Oftalmol ;
2005, Número 3
Deficiencia de Biotinidasa