نتایج جستجو برای: metachromatic leukodystrophy
تعداد نتایج: 3076 فیلتر نتایج به سال:
Prosaposin deficiency (pSap-d) and saposin B deficiency (SapB-d) are both lipid storage disorders caused by mutations in the PSAP gene that codes for the 65-70 kDa prosaposin protein, which is the precursor for four sphingolipid activator proteins, saposins A-D. We report on two new patients with PSAP gene defects; one, with pSap-d, who had a severe neurovisceral dystrophy and died as a neonate...
Background: Metachromatic leukodystrophy (MLD) is a rare disease with three forms based on the age at onset of signs and symptoms. The objective of this study was to develop a caregiver-reported clinical outcome assessment that measures impairments in physical functioning related to activities of daily living in patients with juvenile MLD. Methods: A targeted literature review and exploration o...
M leukodystrophy (MLD) is an autosomal recessive disorder, caused by deficiency of arylsulfatase A (cerebroside sulfatase A, ASA), which results in accumulation of sulfatides, mainly in the brain and peripheral nerves. The estimated frequency of MLD from previous reports is 1 in 40,000 cases. The deficiency in ASA activity is caused by mutations in the ASA gene. The deficiency is systemic and a...
from cats, belonged to ST93 and a new ST strain, respectively. Isolates EC08 and EC09, from the patients who shared the same hospital room with the pet shop worker, were ST156 (Table). Results of pulsed-field gel electro-phoresis were consistent with multilocus sequence typing results and showed that isolates consisted of 5 typeslate EC07 was clonally related to 4 E. coli strains from dogs, acc...
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