Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options.

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作者： Tatiana,Bremova-Ertl ^[1] ; Jan,Hofmann ^[2] ; Janine,Stucki ^[1] ; Anja,Vossenkaul ^[1] ; Matthias,Gautschi ^[3]

作者单位： Department of Neurology, University Hospital Bern (Inselspital) and University of Bern, 3010 Bern, Switzerland. ^[1] Center for Rare Diseases, University Hospital Bern (Inselspital) and University of Bern, 3010 Bern, Switzerland. ^[2] Division of Pediatric Endocrinology, Diabetes and Metabolism, Department of Paediatrics, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland. ^[3] Institute of Clinical Chemistry, Inselspital, Bern University Hospital, University of Bern, 3010 Bern, Switzerland. ^[4]

关键词 GM2-gangliosidosis Niemann-Pick type C abetalipoproteinemia acetyl-DL-leucine acetyl-L-leucine biomarkers cerebellar ataxia cerebrotendinous xanthomatosis disease-modifying treatment disorders of carbohydrate metabolism hereditary metabolic ataxia inborn error of metabolism lysosomal storage disorders metabolic diseases neurodegeneration neuroprotection ocular motor symptomatic treatment

DOI 10.3390/cells12182314

PMID 37759536

发布时间 2023-10-03

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2023年12卷18期

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Inborn Errors of Metabolism with Ataxia: Current and Future Treatment Options.

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