Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients-Reference-Cited by-同舟云学术

Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients

Published:2017-05-12 Issue:5 Volume:12 Page:e0177503
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Borsatto Taciane,Sperb-Ludwig Fernanda,Lima Samyra E.,S. Carvalho Maria R.,S. Fonseca Pablo A.,S. Camelo José,M. Ribeiro Erlane,F. V. de Medeiros Paula,M. Lourenço Charles,F. M. de Souza Carolina,Boy Raquel,Félix Têmis M.,M. Bittar Camila,L. C. Pinto Louise,C. Neto Eurico,J. Blom Henk,D. Schwartz Ida V.

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference36 articles.

1. Biotinidase and its roles in biotin metabolism;J Hymes;Clinica chimica acta; international journal of clinical chemistry,1996

2. Biotinidase deficiency: the enzymatic defect in late-onset multiple carboxylase deficiency;B Wolf;Clinica chimica acta; international journal of clinical chemistry,1983

3. Biotinidase deficiency: a survey of 10 cases;HJ Wastell;Archives of disease in childhood,1988

4. Low biotinidase activity in plasma of some preterm infants: possible source of false-positive screening results;T Suormala;European journal of pediatrics,1988

5. The effect of neonatal jaundice on biotinidase activity;KH Schulpis;Early Human Development,2003

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