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 全选  【符合条件的数据共：116条】

1 Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency [期刊论文]

来源：BMC Pediatrics

作者:Rafael Artuch;Plácido Navas;Mercedes Pineda;等

关键词:Ketogenic diet;Ataxia;...

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2 Association between coenzyme Q10 and glucose transporter (GLUT1) deficiency [期刊论文]

来源：BMC Pediatrics

作者:Rafael Artuch;Plácido Navas;Mercedes Pineda;等

关键词:Ketogenic diet;Ataxia;...

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3 Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation [期刊论文]

来源：BMC Medical Genetics

作者:Filippo M Santorelli;Angelo Schenone;Maria Chiara Meschini;等

关键词:Progressive external ophthalmoparesis;Ataxia;...

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4 Dopamine-agonist responsive Parkinsonism in a patient with the SANDO syndrome caused by POLG mutation [期刊论文]

来源：BMC Medical Genetics

作者:Filippo M Santorelli;Angelo Schenone;Maria Chiara Meschini;等

关键词:Progressive external ophthalmoparesis;Ataxia;...

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5 Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency [期刊论文]

来源：BMC Medical Genetics

作者:Vamsi K Mootha;Jeremy D Schmahmann;Katherine B Sims;等

关键词:Peroxisomal defects;Multi-system disorders;...

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6 Next generation sequencing with copy number variant detection expands the phenotypic spectrum of HSD17B4-deficiency [期刊论文]

来源：BMC Medical Genetics

作者:Vamsi K Mootha;Jeremy D Schmahmann;Katherine B Sims;等

关键词:Peroxisomal defects;Multi-system disorders;...

预览  |  原文链接  |  全文  [ 浏览：8 下载：7  ]