Creatine transporter deficiency: Novel mutations and functional studies.

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Relax, Cool Down and Scaffold: How to Restore Surface Expression of Folding-Deficient Mutant GPCRs and SLC6 Transporters.SLC6 Transporter Folding Diseases and Pharmacochaperoning.

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P2860

Creatine transporter deficiency: Novel mutations and functional studies.

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2016 nî lūn-bûn

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2016年の論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年論文

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2016年论文

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Creatine transporter deficiency: Novel mutations and functional studies.

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Creatine transporter deficiency: Novel mutations and functional studies.

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Creatine transporter deficiency: Novel mutations and functional studies.

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Creatine transporter deficiency: Novel mutations and functional studies.

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A Shilon-Hadass

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B Ben-Zeev

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C Hoffmann

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G Heimer

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L V Gabis

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M Procter

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M Tzadok

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R Mao

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S Sada

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P2860

Intracellular compartmentation, structure and function of creatine kinase isoenzymes in tissues with high and fluctuating energy demands: the 'phosphocreatine circuit' for cellular energy homeostasis

X-linked creatine-transporter gene (SLC6A8) defect: a new creatine-deficiency syndrome.

High prevalence of SLC6A8 deficiency in X-linked mental retardation

Creatine and creatinine metabolism

X-linked creatine transporter defect: an overview

Inborn errors of creatine metabolism and epilepsy: clinical features, diagnosis, and treatment.

Laboratory diagnosis of defects of creatine biosynthesis and transport.

Cerebral creatine deficiency syndromes: clinical aspects, treatment and pathophysiology.

X-linked creatine deficiency syndrome: a novel mutation in creatine transporter gene SLC6A8.

Assignment of the creatine transporter gene (SLC6A8) to human chromosome Xq28 telomeric to G6PD.

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20-23

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scholarly article

case report

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10.1016/J.YMGMR.2016.06.005

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Nicola Longo

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Creatine transporter deficiency: Novel mutations and functional studies.

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P2860

P2860

Creatine transporter deficiency: Novel mutations and functional studies.

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P1433

P1476

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P2860

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