leukodystrophy


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leukodystrophy

(ˌluːkəʊˈdɪstrəfɪ)
n, pl -phies
(Pathology) pathol any of several progressive disorders characterized by the degeneration of white matter or myelin
References in periodicals archive ?
The company is developing innovative therapies for the treatment of lysosomal storage disorders including neurological symptoms such as Hurler syndrome (MPS I), Hunter syndrome (MPS II), metachromatic leukodystrophy, Sanfilippo A and B syndromes, as well as other diseases with severe CNS manifestations.
To the Editor: Mutations in the mitochondrial alanyl-tRNA synthetase 2 gene ( AARS2 ) have been recently found to lead to chronic progressive leukodystrophy or infantile cardiomyopathy.
It was used service at her e s After visiting Calderdale Royal Hospital, she was found to suffer from a serious heart condition called hypertrophic cardio-myopathy, as well as a condition called leukodystrophy - a condition where white matter in her brain affected her nervous system.
The LSDs for which clinical trials are in various phases include Mucopolysaccharidosis Type-IIIA, Mucoploysaccharidosis Type-IVA, Mucoploysaccharidosis Type-VII, Metachromatic Leukodystrophy, Wolman Disease, Alpha-mannosidosis and Niemann Pick C/D.
When she was only two, Abbie, the eldest of the three children, was diagnosed with metachromatic leukodystrophy, a degenerative condition that reduces muscle tone.
Angela Moore Allan's daughter Laura has Metachromatic, Leukodystrophy (MLD) which is a rare genetic disease of the brain.
Metachromatic leukodystrophy presenting as bipolar disorder.
7,19-22 In a prospective study about sedation for children with metachromatic leukodystrophy undergoing MRI, Mattioli et al.
Of the 100 children, majority were diagnosed to have (56%) 56/100 epilepsy while (20%) 20/100 had cerebral palsy, (11%) 11/100 had post meningoencephalitis sequalae, (7%) 7/100 had intracranial hemorrhage (stroke), (3%) 3/100 had leukodystrophy, (1%) 1/100 had rickets, (1%) 1/100 had down syndromeand (1%) 1/100 leukoencephalopathy (table-II).
A 9-year-old girl with late-infantile metachromatic leukodystrophy was admitted to Marienhospital Herne, Herne, Germany, on February 9, 2015, for elective fundoplication.
Radiological possibility entertained was leukodystrophy.
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