A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency-Reference-Cited by-同舟云学术

A novel null mutation in the pyruvate dehydrogenase phosphatase catalytic subunit gene (PDP1) causing pyruvate dehydrogenase complex deficiency

Published:2019-06-17 Issue:1 Volume:48 Page:26-35
ISSN:2192-8312
Container-title:JIMD Reports
language:en
Short-container-title:JIMD Reports

Author:

Bedoyan Jirair K.¹²³⁴^ORCID,Hecht Leah⁵,Zhang Shulin⁶,Tarrant Stacey⁵,Bergin Ann⁷,Demirbas Didem⁵,Yang Edward⁸,Shin Ha Kyung⁹,Grahame George J.⁴,DeBrosse Suzanne D.¹²³,Hoppel Charles L.⁴¹⁰¹¹,Kerr Douglas S.²⁴,Berry Gerard T.⁵

Affiliation:

1. Department of Genetics and Genome SciencesCase Western Reserve University (CWRU) Cleveland Ohio

2. PediatricsCase Western Reserve University (CWRU) Cleveland Ohio

3. Center for Human GeneticsUniversity Hospitals Cleveland Medical Center (UHCMC) Cleveland Ohio

4. Center for Inherited Disorders of Energy Metabolism (CIDEM)University Hospitals Cleveland Medical Center (UHCMC) Cleveland Ohio

5. Division of Genetics and Genomics, The Manton Center for Orphan Disease ResearchBoston Children's Hospital, Harvard Medical School Boston Massachusetts

6. Pathology and Laboratory MedicineUniversity of Kentucky Lexington Kentucky

7. Department of NeurologyBoston Children's Hospital, Harvard Medical School Boston Massachusetts

8. RadiologyBoston Children's Hospital, Harvard Medical School Boston Massachusetts

9. School of MedicineCase Western Reserve University (CWRU) Cleveland Ohio

10. MedicineCase Western Reserve University (CWRU) Cleveland Ohio

11. PharmacologyCase Western Reserve University (CWRU) Cleveland Ohio

Funder

National Institutes of Health

Clinical and Translational Science Collaborative of Cleveland, School of Medicine, Case Western Reserve University

Publisher

Wiley

Subject