Work

Creatine deficiency syndrome. A treatable myopathy due to arginine–glycine amidinotransferase (AGAT) deficiency

Year: 2013

Type: article

Study design: Case Report

Source: Neuromuscular Disorders

DOI: 10.1016/j.nmd.2013.04.011

Authors: S. Nouioua, D. Cheillan, S. Zaouidi, G.S. Salomons, N. Amedjout, F. Kessaci, N. Boulahdour, T. Hamadouche, M. Tazir

Institutions: Hôpital Mustapha Pacha, Inserm, Laboratoire de recherche en cardiovasculaire, métabolisme, diabétologie et nutrition, Institut National des Sciences Appliquées de Lyon, Amsterdam UMC Location Vrije Universiteit Amsterdam, Centre Hospitalo-Universitaire Bab El Oued, University of Boumerdes

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: closed

OpenAlex ID: W2027361981

FWCI: 2.442

Cites: 17

Cited by: 36

Related to: 10