نتایج جستجو برای: glucosephosphate dehydrogenase deficiency
تعداد نتایج: 199743 فیلتر نتایج به سال:
BACKGROUND D-bifunctional protein (DBP) deficiency is typically apparent within the first month of life with most infants demonstrating hypotonia, psychomotor delay and seizures. Few children survive beyond two years of age. Among patients with prolonged survival all demonstrate severe gross motor delay, absent language development, and severe hearing and visual impairment. DBP contains three c...
Key-words Disease name and synomyms Diagnosis criteria/definition Differential diagnosis Incidence Clinical description Treatment Etiology Diagnostic methods Genetic counseling and prenatal diagnosis Unresolved questions and outlook References
LABORATORY DATA biochemical markers metabolic defect chromosomal assignment chromosome X localization chromosome Xq localization chromosome Xq28 localization gene, structural-functional anomalies G6PD (G6PD1) glucose-6-phosphate dehydrogenase, gene chr.Xq28 gene analysis-DNA analysis myelo-erythropoietic disorders glucose-6-phosphate dehydrogenase deficiency haemolytic anaemia isolated hematopo...
Out of 20 patients with viral hepatitis whose glucose-6phosphate dehydrogenase (G-6-PD) levels were normal, 14 had clinical evidence of a mild to moderate degree of haemolysis but in all the patients studied the half life of chromium-51-labelled red cells was shortened. Out of 18 viral hepatitis patients deficient in G-6-PD 17 had clinical evidence of haemolysis, and in eight this was more seve...
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