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Disorders of biotin metabolism. The metabolic and molecular bases of inherited disease. Deficient Biotinidase activity in late-onset multiple carboxylase deficiency. N Engl J Med ; The enzymatic degradation of soluble bound biotin J Biol Chem HPS eds. Butterworth Heinemann. Masson: Isoforms of human serum biotinidase. Clin Chim Acta ; : Reinigung und eigenschaften der biotinidase aus schweinenieren und Lactobacillus casei.

Biochem Z ; Biotinidase deficiency: The possible role of biotinidase in the processing of dietary protein-bound biotin. J Inher Metab Dis ; 7: Biotinidase deficiency. Ann NY Acad Sci ; Biotinidase activity in the urine of healthy subjects. Nephron ; Biotinidase in serum and tissues. Methods Enzymol ; Purification of biotinidase from human plasma and its activity on biotinil peptides. Biochemistry ; Dakshinamurti K. Purification and characterization of human serum biotinidase.

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.

Hum Mutat ; Late presentation of biotinidase deficiency with acute visual loss and gait disturbance. Dev Med Child Neurol ; Delayed-onset profound biotinidase deficiency. J Pediatr ; Profound biotinidase deficiency in two asymptomatic adults.

Am J Med Genet ; Two forms of biotin-responsive multiple carboxylase deficiency. J Inherit Metab Dis ; Biotinidase deficiency: a survey of 10 cases. Arch Dis Child ; Worldwide survey of neonatal screening for biotinidase deficiency. J Inher Metab Dis ; Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency. Clin Chim Acta ; A Screeing Method for biotinidase deficiency in newborns. Clin Chem ; A Sensitive fluorimetric rate assay for biotinidase using a new derivate of biotin, biotinylaminoquinoline.

Anal Biochem ; Determination of biotinidase activity with biotinyl -6 aminoquinoline as substrate. Real time PCR assays to detect common mutations in the biotinidase gene and application of mutational analysis to newborn screening for biotinidase deficiency.

Santiago de Chile: Universitaria. Biotinidase deficiency a treatable leukoencephalopathy. Neuropediatrics ; Optic Neuropathy in biotinidase deficiency.

Arch Soc Esp Oftalmol ;


2005, NĂºmero 3



Deficiencia de Biotinidasa


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