Limited benefit of liver transplantation in a boy with biallelic severe deficiency of hydroxymethylbilane synthase and review of prior reported cases. [PDF]
Araque M +5 more
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Editorial for Special Issue on Gene Therapy of Rare Diseases. [PDF]
Brakebusch C.
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Diagnostic value of quantitative MR spectroscopy metabolite ratios for Canavan disease. [PDF]
Tahsini MR +7 more
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Diffuse high-grade glioma with gliomatosis cerebri pattern mimicking symmetric white matter disease. [PDF]
Abouchiba S +10 more
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A scoping review of stem cell models of leukodystrophies: advances in understanding pathophysiological mechanisms. [PDF]
Chapleau A +3 more
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Gallbladder mucinous carcinoma in a child with metachromatic leukodystrophy, case report and literature review. [PDF]
Bai Q +7 more
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Surgical correction of severe rigid equinovarus deformity in Cockayne syndrome: perioperative challenges and multidisciplinary management-a case report. [PDF]
Isneina SA +5 more
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Characterization of Clinical Phenotype to Glial Fibrillary Acidic Protein Concentrations in Alexander Disease. [PDF]
Waldman AT +9 more
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A case report of multiple system atrophy-mimics: Importance of comprehensive evaluation in suspected familial cases. [PDF]
Jeong C, Farrer M, Khurana V, Kim HJ.
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