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1-6 of 6 results for creatine transporter deficiency

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Open access

Case report

First published 2023

Creatine Transporter Deficiency Presenting as Failure to Thrive: A Case Report of a Novel SLC6A8 Variant Causing a Treatable but Likely Underdiagnosed Genetic Disorder

Christina G. Tise, Melinda J. Palma, Kristina P. Cusmano-Ozog [...]

Journal of Investigative Medicine High Impact Case Reports

Retricted access

Other

First published 2010-8

Samantha C. Hathaway, Michael Friez, Kimberly Limbo [...]

Journal of Child Neurology

Retricted access

Other

First published 2007-06

J. Vodopiutz, C.B. Item, M. Häusler [...]

Journal of Child Neurology

Free access

Research article

First published 2008-11

R S Carling, S L Hogg, T C Wood [...]

Annals of Clinical Biochemistry: International Journal of Laboratory Medicine

Open access

Research article

First published 2020

Lu Yuan, Xian Jian Wu, Wen Chuan Li [...]

Technology in Cancer Research & Treatment

Retricted access

Research article

First published 2016-09

Adam D. Kennedy, Marcus J. Miller, Kirk Beebe [...]

Genetic Testing and Molecular Biomarkers