Plasma carnitine concentrations in <scp>Medium‐chain acyl‐CoA</scp> dehydrogenase deficiency: lessons from an observational cohort study-Reference-Cited by-同舟云学术

Plasma carnitine concentrations in Medium‐chain acyl‐CoA dehydrogenase deficiency: lessons from an observational cohort study

Published:2022-07-17 Issue:6 Volume:45 Page:1118-1129
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Jager Emmalie A.¹^ORCID,Schaafsma Merit¹,van der Klauw Melanie. M.²^ORCID,Heiner‐Fokkema M. Rebecca³^ORCID,Derks Terry G. J.¹^ORCID

Affiliation:

1. Section of Metabolic Diseases Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen Groningen The Netherlands

2. Department of Endocrinology University of Groningen, University Medical Center Groningen Groningen The Netherlands

3. Laboratory of Pediatrics University of Groningen, University Medical Center Groningen Groningen The Netherlands

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12537

Reference42 articles.

1. Lawrence MerrittJ2nd ChangIJ.Medium‐chain acyl‐coenzyme a dehydrogenase deficiency. 2000 Apr 20 [Updated 2019 Jun 27]. In: Adam MP Mirzaa GM Pagon RA et al. editors. GeneReviews® [Internet]. Seattle (WA): University of Washington; 1993‐2022. Published online June 27 2019. Accessed December 3 2021.https://www.ncbi.nlm.nih.gov/books/NBK1424/

2. A nationwide retrospective observational study of population newborn screening for medium‐chain acyl‐CoA dehydrogenase (MCAD) deficiency in the Netherlands

3. Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

4. Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis

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2. Medium‐chain Acyl‐COA dehydrogenase deficiency: Pathogenesis, diagnosis, and treatment;Endocrinology, Diabetes & Metabolism;2022-10-27