Work

Loss of Glycine Transporter 1 Causes a Subtype of Glycine Encephalopathy with Arthrogryposis and Mildly Elevated Cerebrospinal Fluid Glycine

Year: 2016

Type: article

Study design: Case Report

Source: The American Journal of Human Genetics

DOI: 10.1016/j.ajhg.2016.09.004

Authors: Alina Kurolap, Anja Armbruster, Tova Hershkovitz, Katharina Hauf, Adi Mory, Tamar Paperna, Ewald Hannappel, Galit Tal, Yusif Nijem, Ella Sella, Muhammad Mahajnah, Anat Ilivitzki, Dov Hershkovitz, Nina Ekhilevitch, Hanna Mandel, Volker Eulenburg, Hagit N. Baris

Institutions: Technion – Israel Institute of Technology, Rambam Health Care Campus, Friedrich-Alexander-Universität Erlangen-Nürnberg, Nazareth Hospital EMMS, Hillel Yaffe Medical Center

Language: English

Topic: Amino Acid Enzymes and Metabolism

Subfield: Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: bronze

Funder: Deutsche Forschungsgemeinschaft

Award: G2480309514

OpenAlex ID: W2538373155

FWCI: 3.092

Cites: 40

Cited by: 43

Related to: 10