Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots-Reference-Cited by-同舟云学术

Prediction of VLCAD deficiency phenotype by a metabolic fingerprint in newborn screening bloodspots

Published:2020-06 Issue:6 Volume:1866 Page:165725
ISSN:0925-4439
Container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
language:en
Short-container-title:Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Author:

Knottnerus Suzan J.G.,Pras-Raves Mia L.,van der Ham Maria,Ferdinandusse Sacha,Houtkooper Riekelt H.,Schielen Peter C.J.I.,Visser Gepke,Wijburg Frits A.,de Sain-van der Velden Monique G.M.

Publisher

Elsevier BV

Subject

Molecular Biology,Molecular Medicine

Reference30 articles.

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3. Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting;Lindner;J. Inherit. Metab. Dis.,2010

4. MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency;Spiekerkoetter;J. Pediatr.,2003

5. Lethal undiagnosed very long-chain acyl-CoA dehydrogenase deficiency with mild C14-acylcarnitine abnormalities on newborn screening;Spiekerkoetter;JIMD Rep,2012

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