نتایج جستجو برای: metachromatic leukodystrophy
تعداد نتایج: 3076 فیلتر نتایج به سال:
Nonverbal learning disability pattern observed in a case of adult-onset metachromatic leukodystrophy
Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy
Scholz's disease or metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by a deficiency in arylsulfatase A (ARSA: EC 3.1.6.8). This enzyme is responsible for the degradation of sulfatides commonly called cerebroside-3-sulfate or 3-O-sulfogalactosylcéramide in galactocérébroside and sulfate. The success of hydrolysis of these sphingolipids by ARSA necessarily depends on the ...
MLD is an ultra-rare neurodegenerative disease leading to motor and cognitive decline premature death. Prior the introduction of atidarsagene autotemcel (arsa-cel), treatment consisted only best supportive care. When patients are treated pre-symptomatically, arsa-cel has potential prevent or slow progression enable children have improved quality life. In absence newborn screening (NBS), pre-sym...
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