Results 151 to 160 of about 11,658 (188)

Gallbladder polyposis in metachromatic leukodystrophy

Pediatric Radiology, 2012
Gallbladder polyposis is a rare entity that can be associated with conditions such as metachromatic leukodystrophy (MLD), but the literature is sparse. We present a child with gallbladder polyposis who was diagnosed with MLD 15 months later despite normal neuroimaging and clinical examination initially.
Peter J. Shipman, Aanchal Agarwal
openaire   +3 more sources

Gene therapy in metachromatic leukodystrophy

Int. Journal of Clinical Pharmacology and Therapeutics, 2009
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by deficiency of the lysosomal enzyme arylsulfatase A. Deficiency of this enzyme results in intralysosomal storage of sphingolipid cerebroside 3-sulfates (sulfatides), which are abundant in myelin and neurons.
Nathalie Cartier-Lacave, C Sevin, Patrick Aubourg   +2 more
openaire   +3 more sources

A Mutation-Agnostic Hematopoietic Stem Cell Gene Therapy for Metachromatic Leukodystrophy.

The CRISPR Journal, 2021
Metachromatic leukodystrophy (MLD) is a rare genetic disorder caused by mutations in the Arylsulfatase-A (ARSA) gene. The enzyme plays a key role in sulfatide metabolism in brain cells, and its deficiency leads to neurodegeneration.
J. Antony, A. Daniel-Moreno, Andrés Lamsfus-Calle, Janani Raju, Merve Kaftancioglu, Guillermo Ureña-Bailén, Jennifer Rottenberger, Yujuan Hou, V. Santhanakumaran, Jun-Hoe Lee, L. Heumos, J. Böhringer, I. Krägeloh-Mann, R. Handgretinger, Markus Mezger   +14 more
semanticscholar   +1 more source

Communicating Hydrocephalus in Metachromatic Leukodystrophy

Pediatric Neurology, 2013
This child was developmentally normal until approximately 1 year of age, then regressed. When first evaluated at 2 years of age, she had developed spastic quadriparesis with decreased vision and verbal communication. A magnetic resonance imaging revealed bilateral diffuse signal abnormalities involving the splenium of the corpus callosum and the deep ...
Jay Desai, John Grimm
openaire   +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   +2 more sources

Intestinal Involvement in Metachromatic Leukodystrophy

Journal of Child Neurology, 2011
Metachromatic leukodystrophy is a lysosomal storage disease caused by the deficiency of the enzyme arylsulfatase A. If arylsulfatase A is deficient, sulfatide accumulates. Functionally, this accumulation results in progressive neurological deterioration.
Haluk Yavuz, Hasan Ali Yüksekkaya
openaire   +3 more sources

Association of Age at Onset and First Symptoms With Disease Progression in Patients With Metachromatic Leukodystrophy

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, Saskia Elgün, C. Raabe, J. Böhringer, S. Beck-Wödl, A. Bevot, N. Kaiser, L. Schöls, I. Krägeloh-Mann, S. Groeschel   +9 more
semanticscholar   +1 more source

Molecular genetics of metachromatic leukodystrophy

Human Mutation, 1994
Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disease. It can be caused by mutations in two different genes, the arylsulfatase A and the prosaposin gene. These genes encode two proteins that are needed for the proper degradation of cerebroside sulfate, a glycolipid mainly found in the myelin membranes. Deficiency of
David A. Wenger, Charles P. Morris, Joel Zlotogora, Volkmar Gieselmann, Ann Harris   +4 more
openaire   +6 more sources

Gene therapy of metachromatic leukodystrophy

Expert Opinion on Biological Therapy, 2005
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease that is caused by a deficiency of arylsulfatase A (ASA). The deficiency results in the intralysosomal accumulation of the acidic sphingolipid 3-O-sulfogalactosyl-ceramide (sulfatide). Patients suffer from progressive demyelination and die from multiple neurological deficits.
Ulrich Matzner, Volkmar Gieselmann
openaire   +3 more sources

Metachromatic leukodystrophy: On an atypical case

The Italian Journal of Neurological Sciences, 1992
We describe an atypical case of juvenile metachromatic leukodystrophy. Motor conduction velocity was still within the normal range 3 years after clinical onset, in contrast to what is commonly found in this disease. Another unusual feature is the normal level of CSF protein.
C. A. Zambrino, A. Minelli, Umberto Balottin, Giovanni Lanzi, Giorgio Rossi   +4 more
openaire   +2 more sources