Differences between acylcarnitine profiles in plasma and bloodspots-Reference-Cited by-同舟云学术

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Differences between acylcarnitine profiles in plasma and bloodspots

Published:2013-09 Issue:1-2 Volume:110 Page:116-121
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

de Sain-van der Velden Monique G.M.,Diekman Eugene F.,Jans Judith J.,van der Ham Maria,Prinsen Berthil H.C.M.T.,Visser Gepke,Verhoeven-Duif Nanda M.

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference22 articles.

1. A general introduction to the biochemistry of mitochondrial fatty acid beta-oxidation;Houten;J. Inherit. Metab. Dis.,2010

2. Carnitine and acylcarnitines: pharmacokinetic, pharmacological and clinical aspects;Reuter;Clin. Pharmacokinet.,2012

3. Expanded newborn screening for inborn errors of metabolism by electrospray ionization–tandem mass spectrometry: results, outcome, and implications;Schulze;Pediatrics,2003

4. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project;McHugh;Genet. Med.,2011

5. Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects;Vreken;J. Inherit. Metab. Dis.,1999

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1. Diagnostic Challenges in the Myopathic Variant of Carnitine Palmitoyltransferase II Deficiency: A Case Report;Cureus;2024-07-17

2. Impact of newborn screening for fatty acid oxidation disorders on neurological outcome: A Belgian retrospective and multicentric study;European Journal of Paediatric Neurology;2024-03

3. A comparative study of plasma and dried blood spot metabolomics and its application to diabetes mellitus;Clinica Chimica Acta;2024-01

4. Low C0 and normal C16 and C18:1 masking the diagnosis of carnitine palmitoyltransferase II deficiency including a novel CPT2 variant: A case report;Archives de Pédiatrie;2024-01

5. Experience with carnitine palmitoyltransferase II deficiency: diagnostic challenges in the myopathic form;Journal of Pediatric Endocrinology and Metabolism;2023-11-07

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