Outcome in patients with profound biotinidase deficiency: relevance of newborn screening-Reference-Cited by-同舟云学术

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Outcome in patients with profound biotinidase deficiency: relevance of newborn screening

Published:2007-02-13 Issue:7 Volume:46 Page:481-484
ISSN:0012-1622
Container-title:Developmental Medicine & Child Neurology
language:en
Short-container-title:

Author:

Weber Peter,Scholl Sabine,Baumgartner E Regula

Publisher

Wiley

Subject

Clinical Neurology,Developmental Neuroscience,Pediatrics, Perinatology, and Child Health

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1469-8749.2004.tb00509.x/fullpdf

Reference18 articles.

1. Incidence of biotinidase deficiency in Turkish newborns.;Baycal;Acta Paediatr,1998

2. Biotinidase deficiency: two cases of very early presentation.;Haagerup;Dev Med Child Neuro,1997

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1. Biotinidase deficiency: What have we learned in forty years?;Molecular Genetics and Metabolism;2023-04

2. Overview on Pathophysiology, Diagnosis, and Management of Biotinidase Deficiency in Pediatrics;Archives of Pharmacy Practice;2023

3. A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype–Phenotype Analysis;Journal of Pediatric Genetics;2022-11-01

4. Biotin-Responsive Disorders;Inborn Metabolic Diseases;2022

5. Alterações auditivas e deficiência de biotinidase: revisão integrativa da literatura;Revista CEFAC;2022

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