Results 161 to 170 of about 5,931 (183)
Hematopoietic stem cell gene therapy of neurometabolic lysosomal storage diseases.
Brain DevConsiglieri G, Tucci F, Bernardo ME.
europepmc +1 more source
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Prenatal metachromatic leukodystrophy.
Helvetica paediatrica acta, 1975In 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 +6 more
openaire +2 more sources
[Metachromatic leukodystrophy].
Neuropsihijatrija, 1969INFANTILE 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
openaire +4 more sources
Archives of Neurology, 1975
• A variant of metachromatic leukodystrophy (MLD), Austin disease, is characterized by a multiple isozyme deficiency of arylsulfatase. A 31/2-year-old girl with progressive mental and physical deterioration had decreased activities of arylsulfatases A and B in the leukocytes, shown by acrylamide gel electrophoresis.
openaire +1 more source
• A variant of metachromatic leukodystrophy (MLD), Austin disease, is characterized by a multiple isozyme deficiency of arylsulfatase. A 31/2-year-old girl with progressive mental and physical deterioration had decreased activities of arylsulfatases A and B in the leukocytes, shown by acrylamide gel electrophoresis.
openaire +1 more source
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
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