Retinal Dystrophy and Leukodystrophy Caused by ACBD5 Deficiency in Five Omani Patients: A Case Series. [PDF]
Oman Med JAl Shamsi B +9 more
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A Contemporary Pathomechanistic Nosology of Inherited Lysosomal Disorders. [PDF]
J Inherit Metab DisMcCarron EP +7 more
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Longitudinal MRI-based changes in intracranial volume and skull thickness observed in both metachromatic leukodystrophy and multiple sclerosis. [PDF]
Neuroimage ClinVorst GHJ +7 more
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Case Report: A rare case of fucosidosis caused by a novel homozygous pathogenic variant in the FUCA1 gene within a 17.2 Mb region of homozygosity. [PDF]
Front Med (Lausanne)Wang H, Xing W.
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<i>DEGS1</i>-Related Hypomyelinating Leukodystrophy: Four Individuals From Same Family and Review of Literature. [PDF]
Neurol GenetGrinberg M +5 more
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Mitochondrial DNA Maintenance Defects: Clinical, Imaging, and Genetic Spectrum of Four Patients from a Single Tertiary Care Centre. [PDF]
Ann Indian Acad NeurolAmalnath D +4 more
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Correction to: A loss of function mutation in CLDN25 causing Pelizaeus-Merzbacher-like leukodystrophy. [PDF]
Hum Mol Geneteuropepmc +1 more source
Adult-Onset Familial TUBB4A-Related Leukodystrophy Caused by c.286G>A (p.Gly96Arg) in a Korean Family: A Case Report. [PDF]
J Mov DisordLee JS, You S.
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Pedigree Case Report of adult-onset phenotypically heterogeneous Krabbe disease. [PDF]
Front GenetChong L, Li Y, Wang Y, Wang J, Han J.
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