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Metachromatic leukodystrophy

, 2014
openaire   +1 more source

Dose-response evaluation of intravenous gene therapy in a symptomatic mouse model of metachromatic leukodystrophy. [PDF]

Mol Ther Methods Clin Dev
Audouard E, Khefif N, Mansat C, Nelcha O, Banchi EG, Lupiet C, Farabos D, Lamaziere A, Sevin C, Piguet F.   +9 more
europepmc   +1 more source

Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries. [PDF]

Orphanet J Rare Dis
Schoenmakers DH, Mochel F, Adang LA, Boelens JJ, Calbi V, Eklund EA, Grønborg SW, Fumagalli F, Groeschel S, Lindemans C, Sevin C, Schöls L, Ram D, Zerem A, Graessner H, Wolf NI.   +15 more
europepmc   +1 more source

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Metachromatic Leukodystrophy – An Update

Neuropediatrics, 2010
Metachromatic leukodystrophy (MLD) is a rare lysosomal sphingolipid storage disorder, caused by a deficiency of arylsulfatase A (ASA). It is inherited in an autosomal recessive way, among Caucasians three causing alleles are frequent. Demyelination is the hallmark of MLD.
V Gieselmann, I Krägeloh-Mann
exaly   +3 more sources

Prenatal metachromatic leukodystrophy.

Helvetica paediatrica acta, 1975
In a family with a metachromatic leukodystrophy patient, two further pregnancies at risk were monitored by amnion cell culture. In one case, a normal baby was predicted and born. In the other case, a prenatal deficiency of arylsulfatase A was found. The diagnosis of metachromatic leukodystrophy was confirmed biochemically in various organs of the fetus
Wiesmann, U N, Meier, C, Spycher, M A, Schmid, Werner, Bischoff, A, Gautier, E, Herschlowitz, N   +6 more
openaire   +3 more sources

Metachromatic Leukodystrophy

Journal of Child Neurology, 2016
Metachromatic leukodystrophy is accompanied by severe motor and cognitive dysfunction. This is the first survey of metachromatic leukodystrophy caregiver perspectives to identify relevant clinical/quality-of-life outcomes for patients/caregivers. Interviews and 1 focus group were conducted with 30 caregivers representing 23 patients.
Florian Eichler, Timothy M Cox, Christine I Dali   +2 more
exaly   +4 more sources

Metachromatic Leukodystrophy

Archives of Neurology, 1969
INFANTILE metachromatic leukodystrophy (MLD) is a genetically determined fatal lipidosis, in which sulfatides (cerebroside sulfates) accumulate in various organs but chiefly affect the white matter of the nervous system.1-3The activity of the enzyme arylsulfatase-A (ASA) is deficient in patients with MLD.
H L, Greene, G, Hug, W K, Schubert
  +7 more sources