ERROR INNATO DEL METABOLISMO PDF

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.

Author:Grogis Goltigar
Country:Peru
Language:English (Spanish)
Genre:Automotive
Published (Last):2 August 2005
Pages:121
PDF File Size:18.88 Mb
ePub File Size:15.92 Mb
ISBN:280-7-22332-787-1
Downloads:35727
Price:Free* [*Free Regsitration Required]
Uploader:Zuhn



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 ;

LILAVATI BOOK BY BHASKARACHARYA PDF

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.

74LS245P DATASHEET PDF

Organisation

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.

Related Articles