The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group-Reference-Cited by-同舟云学术

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The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: Report from the SSIEM Adult Metabolic Physicians Group

Published:2015 Issue: Volume: Page:85-91
ISSN:2192-8304
Container-title:JIMD Reports
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Author:

Sirrs S., ,Hollak C.,Merkel M.,Sechi A.,Glamuzina E.,Janssen M. C.,Lachmann R.,Langendonk J.,Scarpelli M.,Ben Omran T.,Mochel F.,Tchan M. C.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2015_435

Reference17 articles.

1. Carpenter K, Wiley V, Sim KG, Heath D, Wilcken B (2001) Evaluation of newborn screening for medium chain acyl-CoA dehydrogenase deficiency in 275,000 babies. Arch Dis Child Fetal Neonatal Ed 85(2):F105–F109

2. Desnick RJ, Ioannou YA, Eng CM (2007) Alpha galactosidase A deficiency: Fabry disease. Online Metab Mol Bases Inherited Dis 3733–3774

3. El-Hattab AW, Li FY, Shen J et al (2010) Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects. Genet Med 12(1):19–24

4. Garman SC (2007) Structure-function relationships in alpha-galactosidase A. Acta Paediatr Suppl 96(455):6–16

5. Gaspar P, Herrera J, Rodrigues D et al (2010) Frequency of Fabry disease in male and female haemodialysis patients in Spain. BMC Med Genet 11:19

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