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Neurology, ISSN 0028-3878, 2009, Volume 72, Issue 8, pp. 750 - 759
Journal Article
Nature Reviews Neurology, ISSN 1759-4758, 12/2018, Volume 14, Issue 12, pp. 747 - 748
Journal Article
Brain Pathology, ISSN 1015-6305, 05/2018, Volume 28, Issue 3, pp. 372 - 387
Journal Article
Clinical Neurology and Neurosurgery, ISSN 0303-8467, 08/2018, Volume 171, pp. 195 - 195
Journal Article
Journal Article
Brain Pathology, ISSN 1015-6305, 05/2018, Volume 28, Issue 3, pp. 408 - 421
Journal Article
NEUROLOGY, ISSN 0028-3878, 05/2017, Volume 88, Issue 18, pp. 1776 - 1776
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 2016, Volume 39, Issue 4, pp. 513 - 518
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 5/2018, Volume 33, Issue 6, pp. 428 - 431
A 5-year-old Indian boy presented with subacute onset regression of milestones associated with seizures and spasticity. The symptoms started after an attack of... 
magnetic resonance imaging (MRI) | seizures | leukodystrophy | inborn error of metabolism | mitochondrial disorder | PROTEIN | PEDIATRICS | MUTATIONS | DEFICIENCY | CLINICAL NEUROLOGY | Index Medicus
Journal Article
ISSN 0883-0738, 2018
A 5-year-old Indian boy presented with subacute onset regression of milestones associated with seizures and spasticity. The symptoms started after an attack of... 
magnetic resonance imaging (MRI) | mitochondrial disorder | seizures | leukodystrophy | inborn error of metabolism
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 7/2016, Volume 39, Issue 4, pp. 513 - 518
White matter disorders (WMDs) are a major source of handicap at all ages. They often lead to progressive neurological dysfunction and early death. Although... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | Ssiem 2015
Journal Article
Nature Genetics, ISSN 1061-4036, 07/2009, Volume 41, Issue 7, pp. 829 - U89
Journal Article
Annals of Neurology, ISSN 0364-5134, 02/2003, Volume 53, Issue 2, pp. 252 - 258
We identified eight patients with a distinct magnetic resonance imaging pattern of inhomogeneous cerebral white matter abnormalities and selective involvement... 
LEUKOENCEPHALOPATHY | MULTIPLE-SCLEROSIS LESIONS | SPECTROSCOPY | METABOLISM | MRI | DIFFUSION | MUTATIONS | VANISHING WHITE-MATTER | NEUROSCIENCES | CLINICAL NEUROLOGY
Journal Article
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