Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers-Reference-Cited by-同舟云学术

Four Years’ Experience in the Diagnosis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency in Infants Detected in Three Spanish Newborn Screening Centers

Published:2017 Issue: Volume: Page:63-74
ISSN:2192-8304
Container-title:JIMD Reports
language:
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Author:

Merinero B.,Alcaide P.,Martín-Hernández E.,Morais A.,García-Silva M. T.,Quijada-Fraile P.,Pedrón-Giner C.,Dulin E.,Yahyaoui R.,Egea J. M.,Belanger-Quintana A.,Blasco-Alonso J.,Fernandez Ruano M. L.,Besga B.,Ferrer-López I.,Leal F.,Ugarte M.,Ruiz-Sala P.,Pérez B.,Pérez-Cerdá C.

Publisher

Springer Berlin Heidelberg

Link

http://link.springer.com/content/pdf/10.1007/8904_2017_40

Reference20 articles.

1. Andresen BS, Olpin S, Poorthuis BJ, Scholte HR et al (1999) Clear correlation of genotype with disease phenotype in very-long-chain acyl-CoA dehydrogenase deficiency. Am J Hum Genet 64:479–494

2. Arnold GL, Van Hove J, Freedenberg D, Strauss A et al (2009) A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 96:85–90

3. Boneh A, Andresen BS, Gregersen N, Ibrahim M et al (2006) VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis. Mol Genet Metab 88:166–170

4. Browning MF, Larson C, Strauss A, Marsden DL (2005) Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects. J Inherit Metab Dis 28:545–550

5. Coughlin CR 2nd, Ficicioglu C (2010) Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis 33(Suppl 3):S129–S131

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