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.
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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.
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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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Enfermedades congénitas del metabolismo en el periodo neonatal (I). Generalidades
Skip to search form Skip to main content You are currently offline. Some features of the site may not work correctly. Title: Inborn errors of metabolism during the neonatal period I. General aspects Inborn errors of metabolism are rare at the individual level, but are common at the collective level, due to the great number of entities described in recent years. The first signs are often detected during the neonatal period. Save to Library. Create Alert.
Propionic acidemia AP is an organic acidemia AO with clinical presentation of neonatal onset or late. Caused by deficiency of the enzyme propionil-CoA carboxilasa that causes accumulation of propionic acid and metabolites related to propionyl-CoA in tissues. Hyperglycinemia is characteristic, but hyperlysinemia may occur. This work describes a clinical case of AP of neonatal onset with fatal outcome and striking alteration of amino acids. Clinical case. Female newborn RN admitted in the neonatal unit on the third day of life due to hypoactivity, vomiting and lethargy.
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