Genetics in Medicine Open (Jan 2023)

P039: Retrospective evaluation of amino acid ratios for screening and diagnostic utility for pyruvate dehydrogenase complex deficiency (PDCD) and other mitochondrial disorders (MtDs)*

Anisha Verma,
April Lehman,
Lorna Cropcho,
Danielle Black,
Steven Dobrowolski,
Jerry Vockley,
Jirair Bedoyan

Affiliations

Anisha Verma: UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA
April Lehman: UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA
Lorna Cropcho: UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA
Danielle Black: UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA
Steven Dobrowolski: Department of Pathology, University of Pittsburgh
Jerry Vockley: UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA
Jirair Bedoyan: UPMC Children's Hospital of Pittsburgh, Pittsburgh, PA

Journal volume & issue: Vol. 1, no. 1
p. 100049

Abstract

No abstracts available.

Published in Genetics in Medicine Open

ISSN: 2949-7744 (Online)
Publisher: Elsevier
Country of publisher: United States
LCC subjects: Science: Biology (General): Genetics; Medicine
Website: https://www.sciencedirect.com/journal/genetics-in-medicine-open

About the journal