نتایج جستجو برای: glycogen storage disease type ii
تعداد نتایج: 3212035 فیلتر نتایج به سال:
To identify the relative contribution of local versus regional sources of particulate matter (PM) in the Greater Athens Area (GAA), simultaneous 24-h mass and chemical composition measurements of size segregated particulate matter (PM1, PM2.5 and PM10) were carried out from September 2005 to August 2006 at three locations: one urban (Goudi, Central Athens, “GOU”), one suburban (Lykovrissi, Athe...
BACKGROUND A high prevalence of vitamin D insufficiency/deficiency, which may impact on health and training ability, is evident among athletes worldwide. This observational study investigated the vitamin D status of elite Irish athletes and determined the effect of wintertime supplementation on status. METHODS Serum 25-hydroxyvitamin D [25(OH)D], calcium, and plasma parathyroid hormone were a...
PEARLS Adult-onset Pompe disease (acid maltase deficiency, glycogen storage disease type II) should be considered in the differential diagnosis in the adult patient presenting with slowly progressive selective lower extremity weakness, specifically of the hip flexors. Hip flexion weakness may be the only finding in the earliest stages of this disease. EMG findings of myotonic discharges occurri...
Three cases of nuclear glycogenosis in the liver of diabetic patients have been studied by electron microscopy. In addition to the glycogen deposits described by others, an unusual intranuclear glycogen-filled body was found in all three cases. This body occurred alone or in close contact with the major glycogen deposit.
Discovery of AAT deficiency by Laurell and Eriksson in 1963 [2] provided a foundation for current thinking about the pathogenesis of pulmonary emphysema [3,4]. Although AAT deficiency has become one of the best understood genetic disorders at a molecular and protein level, many questions about the clinical disease remain unanswered. Current American and International research projects should pr...
Two commercial agar media for the cultivation of anaerobes were compared with four other media for their ability to support the growth of a wide range of anaerobes from clinical specimens of subgingival plaque. Fastidious anaerobe agar (FAA, Lab M) and anaerobe agar (GAA, Gibco) allowed better growth of the pure cultures than the other media. FAA recovered the highest numbers of bacteria from s...
Friedreich ataxia is caused by the expansion of a polymorphic and unstable GAA triplet repeat in the FRDA gene, but the mechanisms for its instability are poorly understood. Replication of (GAA*TTC)n sequences (9-105 triplets) in plasmids propagated in Escherichia coli displayed length- and orientation-dependent instability. There were small length variations upon replication in both orientatio...
15-Alkylidene andrographolide derivatives were specific alpha-glucosidase inhibitors. Semi-synthetic studies of these derivatives led to new alpha-glucosidase inhibitors. Their alpha-glucosidase inhibitory activity was evaluated. Bioactivity results indicated that most of the derivatives were excellent alpha-glucosidase inhibitors. Among them, 6c displayed the best alpha-glucosidase inhibitory ...
Gender identity and role in a pedigree of Arabs with intersex due to 5 alpha reductase-2 deficiency.
Between 1986 and 1995, a pedigree of six Arabs with male pseudohermaphroditism due to 5 alpha reductase-2 deficiency have been identified. All, were raised as girls since birth. At the time of diagnosis, three were post-pubertal, one pubertal and two pre-pubertal. The external genitalia of 'pseudo-vaginal perineoscrotal hypospadias' was identical in these subjects. Although these individuals we...
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