Work

Pyruvate dehydrogenase deficiency: Molecular basis for intrafamilial heterogeneity

Year: 1994

Type: article

Study design: Case Report

Source: Annals of Neurology

DOI: 10.1002/ana.410360116

Authors: Tatsuya Fujii, Rudy N. Van Coster, Susan E. Old, Rosella Medori, Susan Winter, Ruth M. Gubits, Paul M. Matthews, Ruth M. Brown, Garry K. Brown, Hans‐Henrik M. Dahl, Darryl C. De Vivo

Institutions: Columbia University Irving Medical Center, Columbia University, Children's Hospital Central California, University of Oxford, Royal Children's Hospital

Language: English

Topic: Biochemical Acid Research Studies

Subfield: Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

OpenAlex ID: W2099195953

FWCI: 1.18

Cites: 30

Cited by: 25

Related to: 10