Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency-Reference-Cited by-同舟云学术

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Normal Biomarkers in an Acute Presentation in a Known Case of Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency

Published:2021-11-24 Issue:12 Volume:67 Page:1735-1737
ISSN:0009-9147
Container-title:Clinical Chemistry
language:en
Short-container-title:

Author:

Alharbi Hana¹²³^ORCID,Bennett Michael J⁴,He Miao¹,Master Stephen R¹,Ganetzky Rebecca D²⁵

Affiliation:

1. Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA

2. Division of Human Genetics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

3. Department of Pediatrics, University of Tabuk, Tabuk, Saudi Arabia

4. Department of Pathology and Laboratory Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

5. Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA

Funder

R.D. Ganetzky

NIDDK

NINDS

NAMDC

Publisher

Oxford University Press (OUP)

Subject

Biochemistry, medical,Clinical Biochemistry

Link

https://academic.oup.com/clinchem/article-pdf/67/12/1735/41387996/hvab154.pdf

Reference5 articles.

1. Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry;Clayton;Arch Dis Child,1998

2. Normal acylcarnitine levels during confirmation of abnormal newborn screening in long-chain fatty acid oxidation defects;Browning;J Inherit Metab Dis,2005

3. Analysis of abnormal urinary metabolites in the newborn period in medium-chain acyl-CoA dehydrogenase deficiency;Bennett;J Inherit Metab Dis,1990

4. Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing;Smith;Mol Genet Metab,2010

5. Medium-chain acyl-CoA dehydrogenase deficiency: evaluation of genotype-phenotype correlation in patients detected by newborn screening;Gramer;JIMD Rep,2015

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