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Exploration Into Lived Experiences of Multiple Sulfatase Deficiency-Affected Individuals and Their Families. [PDF]

J Child Neurol
Gavazzi F, Yu E, Tashnim Z, Woidill S, Sevagamoorthy A, Arnold K, Ammann-Schnell L, Groeschel S, Krägeloh-Mann I, Breitling V, Schlotawa L, Ahrens-Nicklas R, Adang LA.   +12 more
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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

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
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METACHROMATIC LEUKODYSTROPHY. Report of Siblings with the Juvenile Type of Metachromatic Leukodystrophy

Acta Pathologica Japonica, 1988
Two sisters with juvenile metachromatic leukodystrophy are described. The patients were 17 and 20 years old. The younger sister died and an autopsy was perfomed. The elder sister keeps alive. A sural nerve biopsy of both cases revealed an accumulation of metachromatic lipid granules in the Schwann cells and macrophages. The autopsy also disclosed these
T, Satoh, H, Suzuki, N, Monma, R, Satodate, H, Tanaka, H, Yajima   +5 more
openaire   +2 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
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Metachromatic leukodystrophy

Clinical Genetics, 1973
Very low arylsulphatase A (ARA) activity was found directly in amniotic fluid from two pregnancies where cultured amniotic fluid cells as well as cultured fibroblasts from the aborted fetuses were deficient in ARA. These observations differed significantly from parallel determinations of ARA activity in amniotic fluid, cultured amniotic fluid cells and
Anne‐Lise Børresen, C. B. Van Der Hagen   +1 more
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Metachromatic leukodystrophy

Metachromatic leukodystrophy (MLD) is a rare autosomal recessive lysosomal storage disorder caused by disease-causing variants in the gene coding for arylsulfatase A, leading to deficient enzyme activity and subsequent accumulation of sulfatides. MLD is characterized by demyelination and neurodegeneration of the central and peripheral nervous system ...
Asbreuk MABC, Schoenmakers DH, Adang LA, Beerepoot S, Bergner C, Bley A, Boelens JJ, Bugiani M, Calbi V, García-Cazorla À, Eklund EA, Fumagalli F, Grønborg SW, Groeschel S, Van Hasselt PM, Hollak CEM, Jones SA, de Koning TJ, van Kuilenburg ABP, Laugwitz L, Lindemans C, Mochel F, Øberg A, Ram D, Schöls L, Sevin C, Sinha J, Vaz FM, Zerem A, Wolf NI   +29 more
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