Results 11 to 20 of about 3,164 (162)
Pediatric Neurology Briefs, 1990 A ten year old girl with metachromatic leukodystrophy in whom neurophysiologic function and sulfatide metabolism had improved after she received a bone marrow transplant five years before is reported from the Bone Marrow Transplantation Program ...
J Gordon Millichap
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Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction
Annals of Clinical and Translational Neurology, 2020 Objective In metachromatic leukodystrophy, a lysosomal storage disorder due to decreased arylsulfatase A activity, hematopoietic stem cell transplantation may stop brain demyelination and allow remyelination, thereby halting white matter degeneration ...
Nicole I. Wolf +15 more
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Adult metachromatic leukodystrophy: case report
Неврология, нейропсихиатрия, психосоматика, 2021 Metachromatic leukodystrophy (MLD) is a hereditary lysosomal storage disease inherited in an autosomal recessive pattern, which occurs across all age groups.
T. I. Prusova +3 more
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Epidemiology of progressive intellectual and neurological deterioration in UK children. [PDF]
Dev Med Child NeurolThis study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Verity CM +3 more
europepmc +2 more sources
Scientific Reports, 2021 This study evaluates the genetic spectrum of leukodystrophies and leukoencephalopathies in Iran. 152 children, aged from 1 day to 15 years, were genetically tested for leukodystrophies and leukoencephalopathies based on clinical and neuroradiological ...
Nejat Mahdieh +6 more
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Rare case of gallbladder papiloma in children
Journal of Pediatric Surgery Case Reports, 2016 The incidence of villous papilloma of the gallbladder is rarely found amongst children. We report on a 9-year old girl known case of metachromatic leukodystrophy presented with abdominal distension. A radiological examination revealed massive ascites and
Gamal Abbas +2 more
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A CASE REPORT OF JUVENILE FORM OF METACHROMATIC LEUKODYSTROPHY
Pakistan Armed Forces Medical Journal, 2021 Metachromatic Leukodystrophy is a lysosomal storage autosomal recessive disease characterized by arylsulphatase enzyme deficiency, with central and peripheral demyelination.
Muhammad Mohsin Sajjad, Sidra Yousaf
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Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy
Journal of Central Nervous System Disease, 2013 Metachromatic leukodystrophy (MLD) is characterized by the accumulation of sulfatide sphingolipids in the brain and peripheral nerves. We report metabolite alterations recorded using multi-voxel proton spectroscopy of the brain in four children with MLD.
Mitra Assadi +3 more
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Metachromatic Leukodystrophy Variants
Pediatric Neurology Briefs, 1993 Clinical, pathological, imaging, and genetic findings in a family with multiple allelic mutations of metachromatic leukodystrophy (MLD) are reported from McGill University, Montreal, and McMaster University, Hamilton, Canada.
J Gordon Millichap
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Molecular Basis of Metachromatic Leukodystrophies
Pediatric Neurology Briefs, 1991 Arylsulfatase A alleles were analyzed in 68 patients with metachromatic leukodystrophy in the Department of Biochemistry II, Georg-August-Universitat Gottingen, Gosslerstr, Gottingen, Germany.
J Gordon Millichap
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