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Article

Treatment outcome of creatine transporter deficiency: international retrospective cohort study.

Metabolic brain disease - 1 Jun 2018

Bruun Theodora U J, Sidky Sarah, Bandeira Anabela O, Debray Francoise-Guillaume, Ficicioglu Can, Goldstein Jennifer, Joost Kairit, Koeberl Dwight D, Luísa Diogo, Nassogne Marie-Cecile, O'Sullivan Siobhan, Õunap Katrin, Schulze Andreas, van Maldergem Lionel, Salomons Gajja S, Mercimek-Andrews Saadet

Abstract excerpt

To evaluate the outcome of current treatment for creatine transporter (CRTR) deficiency, we developed a clinical severity score and initiated an international treatment registry. An online questionnaire was completed by physicians following patients with CRTR deficiency on a treatment, including creatine and/or arginine, and/or glycine. Clinical severity score included 1) global developmental delay/intellectual...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29435807
DOI: 10.1007/s11011-018-0197-3

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