DEFICIENCIA DE BIOTINIDASA PDF

Skip to search form Skip to main content You are currently offline. Some features of the site may not work correctly. Biotinidase is responsible for cleaving biotin from biocytin or from short biotinyl-peptides and for liberating the vitamin from dietary protein-bound sour Save to Library.

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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.

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Deficiencia de Biotinidasa

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