Results 171 to 180 of about 11,658 (188)

Oral findings in metachromatic leukodystrophy

Oral Surgery, Oral Medicine, Oral Pathology, 1970
Abstract Tissue taken at autopsy from the oral regions of a patient who died of metachromatic leukodystrophy have been studied. Abnormal quantities of sulfatides were demonstrated histochemically within myelinated nerves but not in poorly myelinated or unmyelinated peripheral nerves.
David G. Gardner, Wolfgang Zeman
openaire   +3 more sources

MRI appearances of metachromatic leukodystrophy

Pediatric Radiology, 1999
The leukodystrophies constitute a wide spectrum of cerebral disorders of varying etiology. The imaging appearances on CT and MRI are recognizable as abnormalities of white matter; however, it may be impossible to arrive at the correct diagnosis based on imaging studies alone.Three patients of varying age and clinical symptomatology diagnosed with ...
Eric N. Faerber, J. Melvin, Eleanor M. Smergel   +2 more
openaire   +3 more sources

Gene therapy for metachromatic leukodystrophy

Pediatrics International, 1996
AbstractMetachromatic leukodystrophy (MLD) is an inherited metabolic disease which is characterized by a deficiency of arylsulfatase A (ASA). This deficiency causes progressive accumulation of cerebroside sulfate in oligodendrocytes (OL) in the brain, resulting in dysmyelination.
Kazuhiko Watabe, Yumi Sato, John A. Barranger, Toya Ohashi, Reuben Matalon, Izumu Saito, Yoshikatsu Eto   +6 more
openaire   +3 more sources

Advances in the molecular genetics of metachromatic leukodystrophy

Journal of Inherited Metabolic Disease, 1990
SummaryMetachromatic leukodystrophy is a lysosomal storage disorder caused by the deficiency of arylsulphatase A (EC 3.1.6.1). This results in the intralysosomal storage of cerebroside sulphate, which leads to a progressive demyelination of the nervous system. The patients usually die within a few years from the onset of symptoms. Clinically, there are
Volkmar Gieselmann, K von Figura
openaire   +3 more sources

Molecular Genetics of Metachromatic Leukodystrophy

Developmental Neuroscience, 1991
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ASA). The ASA cDNA as well as the gene has been cloned. The gene is about 3 kb long and consists of 8 exons. The two most frequent alleles causing MLD have been characterized and the distribution of these alleles among patients with different ...
Volkmar Gieselmann, K von Figura, Arvan L. Fluharty, Joachim Kappler, A. Polten, J. Kreysing   +5 more
openaire   +3 more sources

Adult metachromatic leukodystrophy

Neurology, 1985
The visual and somatosensory evoked potentials were delayed in two cases of the adult form of metachromatic leukodystrophy. Brainstem auditory evoked potentials were normal. The conduction velocity along peripheral nerves was 50% slowed in one case and near normal in the other.
Christian Hertel Wulff, Werner Trojaborg
openaire   +3 more sources

Studies on adult metachromatic leukodystrophy

Journal of the Neurological Sciences, 1969
Abstract In lipid extracts from cerebral and cerebellar white matter of 2 adult patients (aged 37 and 48 years) displaying the morphological criteria of metachromatic leukodystrophy, the following lipids were determined by quantitative thin-layer chromatography: free cholesterol, cerebrosides of both the kerasin and cerebron (phrenosin) type ...
H. Pilz, D. Müller
openaire   +3 more sources

Adult Metachromatic Leukodystrophy

American Journal of Ophthalmology, 1979
A. Argyrakis, Hans H. Goebel
openaire   +3 more sources

Gene therapy offers new hope for children with metachromatic leukodystrophy

The Lancet, 2022
J. Kurtzberg
semanticscholar   +1 more source

Adult Metachromatic Leukodystrophy

American Journal of Ophthalmology, 1978
openaire   +3 more sources