Publications:

Long-term follow-up and treatment in nine boys with X-linked creatine transporter defect.

Journal Of Inherited Metabolic Disease

van de Kamp, Jiddeke M JM; Pouwels, Petra J W PJ; Aarsen, Femke K FK; ten Hoopen, Leontine W LW; Knol, Dirk L DL; de Klerk, Johannes B JB; de Coo, Ireneus F IF; Huijmans, Jan G M JG; Jakobs, Cornelis C; van der Knaap, Marjo S MS; Salomons, Gajja S GS; Mancini, Grazia M S GM

Publication Date: 2012-01

Variant appearance in text: GAA: 570_571del

PubMed Link: 21556832

Variant Present in the following documents:

• Main text

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