Results 241 to 250 of about 612,233 (251)

[Clinical characterisation of creatine transporter deficiency associated with SLC6A8 gene variants].

Zhonghua er ke za zhi = Chinese journal of pediatrics
L. Yang, F. Fang, H. Jin, Y. Wu
semanticscholar   +1 more source

Clinical Characteristics of Creatine Transporter Deficiency (CTD): Final Results of the Vigilan Observational Study (P8-8.002)

Neurology
M. Brandabur, Simona Bianconi, I. Anselm, B. Barshop, Elizabeth Berry-Kravis, Dwight D. Koeberl, K. M. Cecil, Fady Hannah-Shmouni, N. Longo, S. Mercimek-Andrews, F. Porter, Samar Rahhal, Reid M. D. Sutton, S. Blair, Tricia Cimms, Lin Zhang, Cristan A. Farmer, Audrey Thurm, Judith S. Miller   +18 more
semanticscholar   +1 more source

Rescue by 4-phenylbutyrate of several misfolded creatine transporter-1 variants linked to the creatine transporter deficiency syndrome

Neuropharmacology, 2019
Sonja Sucic, Michael Freissmuth, Matej Hoťka   +2 more
exaly  

Case report of mosaic creatine transporter deficiency in a male pediatric patient

Molecular Genetics and Metabolism
A. Brooks, Hind Al Saif, Emily McDermott
semanticscholar   +1 more source

METHODS OF TREATING CREATINE TRANSPORTER DEFICIENCY

2020
MUNCIPINTO GIOVANNI, JONES LYN, RETTENMAIER TERRY   +2 more
openaire   +1 more source

Promising treatment in a boy with creatine transporter deficiency

Neuropediatrics, 2010
B Gebhardt, A Büchel, L Porto, S Vlaho
openaire   +1 more source

Targeted Neuronal Delivery of Creatine Using Glucose Dendrimer for Creatine-Transporter Deficiency and Neonatal Brain Injury

Regenerative Engineering and Translational Medicine
Narendra Kale, Wathsala Liyanage, Rui Huang, K. Sakthi Murugesan, Preeti Vyas, Javier Allende Labastida, S. Kannan, Rangaramanujam M. Kannan   +7 more
semanticscholar   +1 more source

RESPONSE TO CREATINE ANALOGOUS SUPPLEMENTATION IN CREATINE TRANSPORTER DEFICIENCY

2009
Campistol J, Fons C, Arias AY, Poo P, López-Sala A, Mas A, Ribes A, Artuch R   +7 more
openaire   +1 more source

BPS2026 – Revealing the complete creatine pathway through the creatine transporter and investigating the molecular impact of missense mutations in creatine transporter deficiency

Biophysical Journal
Pitambar Poudel
semanticscholar   +1 more source

4-Phenylbutyrate corrects folding-deficient creatine transporter-1 variants associated with the creatine deficiency syndrome

Intrinsic Activity, 2018
openaire   +1 more source