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NJ Smith, R Marcus, B Sahakian… - Journal of Inherited …, 2011 - eprints.soton.ac.uk
Haematopoietic stem cell transplantation has an unproven role in the management of late-onset
metachromatic leukodystrophy: theoretically justified through the engraftment of enzyme-replete
haematopoietic progenitors and restoration of capacity for sulphatide catabolism in neural ...
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S Stroobants, D Gerlach, F Matthes… - Human Molecular …, 2011 - Oxford Univ Press
Arylsulfatase A (ASA) catalyzes the desulfation of sulfatide, a major lipid component of
myelin. Inherited functional deficiencies of ASA cause the lysosomal storage disease (LSD) metachromatic
leukodystrophy (MLD), which is characterized by intralysosomal accumulation of ...
Related articles - All 4 versions
T Hayashi, M Nakamura, M Ichiba… - Psychiatry and …, 2011 - Wiley Online Library
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease
caused by a deficiency of arylsulfatase A. MLD is a heterogeneous disease with variable age
at onset and variable clinical features. We evaluated a 33-year-old female patient who ...
Related articles - All 3 versions
P Aubourg, C Sevin, N Cartier… - Neuromethods, 2011 - Springer
Metachromatic leukodystrophy (MLD) and adrenoleukodystrophy (ALD) are two inherited leukodystrophies
that result in most cases in rapid destruction of the myelin within the central nervous system.
There are no spontaneous animal models of these two leukodystrophies and knockout ...
All 2 versions
S Gröschel, C Kehrer… - 9th EPNS Congress, 2011 - epns2011.com
Background: Metachromatic leukodystrophy (MLD) is a rare, neurodegenerative disease in which
motor deterioration and white matter changes are key features. Therapeutic options are topics
of current research. Their evaluation is impeded by the lack of natural course data. ...
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