Results 191 to 200 of about 15,059 (213)
Some of the next articles are maybe not open access.
2016
Metachromatic leukodystrophy can be observed in infantile, juvenile, and adult cases. It is due to deficiency of the enzyme sulfatide sulfatase arylsulfase A. The adult form includes two types—one characterized by predominantly central nervous system motor signs (mainly pyramidal and/or cerebellar) and a peripheral neuropathy, and the other presenting ...
Nicole Baumann, Jean-Claude Turpin
openaire +2 more sources
Metachromatic leukodystrophy can be observed in infantile, juvenile, and adult cases. It is due to deficiency of the enzyme sulfatide sulfatase arylsulfase A. The adult form includes two types—one characterized by predominantly central nervous system motor signs (mainly pyramidal and/or cerebellar) and a peripheral neuropathy, and the other presenting ...
Nicole Baumann, Jean-Claude Turpin
openaire +2 more sources
Kanani S, Raviraj D: Metachromatic leukodystrophy, 2023
Kanani, Shivan, Raviraj, Divya
+4 more sources
Kanani, Shivan, Raviraj, Divya
+4 more sources
Neurology, 2020
Objective To compare disease progression between different onset forms of metachromatic leukodystrophy (MLD) and to investigate the influence of the type of first symptoms on the natural course and dynamic of disease progression.
C. Kehrer +9 more
semanticscholar +1 more source
Objective To compare disease progression between different onset forms of metachromatic leukodystrophy (MLD) and to investigate the influence of the type of first symptoms on the natural course and dynamic of disease progression.
C. Kehrer +9 more
semanticscholar +1 more source
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 +1 more
openaire +1 more source
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 +1 more
openaire +1 more source
Adult Metachromatic Leukodystrophy
American Journal of Ophthalmology, 1979H H, Goebel, A, Argyrakis
openaire +2 more sources
Metachromatic leukodystrophy: To screen or not to screen?
European journal of paediatric neurology, 2023A. Jonckheere +4 more
semanticscholar +1 more source
Frontotemporale Demenz bei metachromatischer Leukodystrophie
, 2007Frontotemporal Dementia +8 more
semanticscholar +1 more source