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 ... Cached
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. ... Cached
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