Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies-Reference-Cited by-同舟云学术

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Neonatal screening for biotinidase deficiency in Hungary: Clinical, biochemical and molecular studies

Published:2003-10 Issue:7 Volume:26 Page:693-698
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

László Á.¹,Schuler É. Á.²,Sallay É.¹,Endreffy E.¹,Somogyi Cs.²,Várkonyi Á.¹,Havass Z.³,Jansen K. P.⁴,Wolf B.⁵

Affiliation:

1. ; A. Szent-Györgyi Medical Centre; University of Szeged; Hungary

2. PKU Laboratory; Budapest Children's Hospital; Budapest

3. Department of Pediatrics; Erzsébet Hospital, Laboratory; Hódmez Hungary

4. ; General Clinical Research Center, Core Laboratory; University of Connecticut School of Medicine; Farmington Connecticut

5. Department of Pediatrics; Connecticut Children's Medical Center and the University of Connecticut School of Medicine; Hartford Connecticut USA

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000005622.89660.59/fullpdf

Reference8 articles.

1. Neonatal screening for biotinidase deficiency in east Hungary;Havass;J Inherit Metab Dis,1991

2. A screening method for biotinidase deficiency in newborns;Heard;Clin Chem,1984

3. Mutations in BTD causing biotinidase deficiency;Hymes;Hum Mutat,2001

4. Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene;Swango;Hum Genet,1998

5. Worldwide survey of neonatal screening for biotinidase deficiency;Wolf;J Inherit Metab Dis,1991

Cited by 17 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

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

2. Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population—Data Based on the National Newborn Screening Programme;Genes;2022-04-29

3. BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation;Journal of the College of Physicians and Surgeons Pakistan;2021-07-01

4. Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy;Frontiers in Pediatrics;2021-05-31

5. Biotinidase deficiency and our champagne legacy;Gene;2016-09

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