Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations-Reference-Cited by-同舟云学术

Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations

Published:2016-06-22 Issue:10 Volume:24 Page:1424-1429
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Wiltink Rachel C,Kruijshaar Michelle E,van Minkelen Rick,Onkenhout Willem,Verheijen Frans W,Kemper Evelien A,van Spronsen Francjan J,van der Ploeg Ans T,Niezen-Koning Klary E,Saris Jasper J^ORCID,Williams Monique

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg201665.pdf

Reference32 articles.

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2. Li H, Spencer L, Nahhas F et al: Novel mutations causing biotinidase deficiency in individuals identified by newborn screening in Michigan including an unique intronic mutation that alters mRNA expression of the biotinidase gene. Mol Genet Metab 2014; 112: 242–246.

3. Norrgard KJ, Pomponio RJ, Hymes J, Wolf B : Mutations causing profound biotinidase deficiency in children ascertained by newborn screening in the United States occur at different frequencies than in symptomatic children. Pediatr Res 1999; 46: 20–27.

4. Wolf B, Jensen K, Huner G et al: Seventeen novel mutations that cause profound biotinidase deficiency. Mol Genet Metab 2002; 77: 108–111.

5. Pomponio RJ, Hymes J, Reynolds TR et al: Mutations in the human biotinidase gene that cause profound biotinidase deficiency in symptomatic children: molecular, biochemical, and clinical analysis. Pediatr Res 1997; 42: 840–848.

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