نتایج جستجو برای: menkes
تعداد نتایج: 1314 فیلتر نتایج به سال:
This case report demonstrates the utility and safety of ultrasound transversus abdominis plane (TAP) block in a paediatric patient suffering from Menkes disease. Anaesthetists, and particularly paediatric and neonatal anaesthetists, have to make a careful assessment of these patients, who are subjected to frequent surgeries, despite their tender years. These operations are often necessary in or...
In 1944, Bevilotti (1) reported that the red corpuscles of patients with malignant tumors de grade pentoses in vitro, while the red cells of normal subjects, or of patients with benign tu mors, do not have this effect. Menkes (5-8) ob served a similar action by blood serum. He found that when the sera of patients with malignant tumors were incubated at 37° C. with pentoses (o-ribose, D-xylose,...
Menkes disease (MD) is caused by a defect in copper homeostasis and has a recognised mouse model, mottled (Atp7aMo). Copper uptake and retention assays performed on fibroblast cultures have been used successfully for pre- and postnatal diagnosis of Menkes disease. We report here the results of these assays applied to primary fibroblast cultures established from nine independent mottled alleles ...
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary motor neuropathy.1,2 About 5%-10% of the patients present with "atypical Menkes disease" characterized by longer survival, cerebellar ataxia, ...
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