Work

Double trouble: Combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci

Year: 1995

Type: article

Study design: Case Report

Source: Neuromuscular Disorders

DOI: 10.1016/0960-8966(94)00062-e

Authors: Seiichi Tsujino, Sara Shanske, James E. Carroll, Richard L. Sabina, Salvatore Dimauro

Institutions: Columbia University Irving Medical Center, Columbia University, Augusta University, Medical College of Wisconsin

Language: English

Topic: Glycogen Storage Diseases and Myoclonus

Subfield: Rheumatology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: closed

Funder: National Institute of Neurological Disorders and Stroke

Award: G137493147

OpenAlex ID: W2039302893

FWCI: 2.34

Cites: 21

Cited by: 48

Related to: 10