Work

The molecular basis of pyruvate carboxylase deficiency: Mosaicism correlates with prolonged survival

Year: 2008

Type: article

Study design: Case Report

Source: Molecular Genetics and Metabolism

DOI: 10.1016/j.ymgme.2008.06.006

Authors: Dong Wang, Hong Yang, Kevin C. De Braganca, Jiesheng Lu, Ling Yu Shih, Paz Briones, Tim Lang, Darryl C. De Vivo

Institutions: Columbia University, Columbia University Irving Medical Center, Rutgers New Jersey Medical School, University of Medicine and Dentistry of New Jersey, Royal Victoria Hospital

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

Funders: National Institute of Neurological Disorders and Stroke, National Center for Research Resources

Awards: G2242706315, Clinical and Translational Science Award, G6358459586, NEUROGLYCOPENIA: GENOTYPE-PHENOTYPE CORRELATION, Neurological Sciences Academic Development Award (NSADA)

OpenAlex ID: W2008943955

FWCI: 1.782

Cites: 37

Cited by: 46

Related to: 10