نتایج جستجو برای: early treated phenylketonuria etpku
تعداد نتایج: 1110023 فیلتر نتایج به سال:
Most local health authorities in Great Britain have used the Phenistix test on wet napkins or diapers (napkin-Phenistix test) to screen all young infants for phenylketonuria (Centerwall et al., 1963). This test is a sensitive and reliable method of detecting phenylpyruvic aciduria (Gibbs and Woolf, 1959; Woolf, 1963), which is an early sign of true phenylketonuria (Allen et al., 1964; Berry and...
Phenylketonuria is the most common inborn error of metabolism. Adult patients often discontinue dietary treatment and can subsequently develop serious brain dysfunction. Some of them, however, do not present any symptoms, despite long-term exposition to high blood phenylalanine concentration. As the extent of brain toxicity of hyperphenylalaninemia is not clear in adults, new diagnostic methods...
Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism resulting from deficiency hydroxylase (PAH).
2 groups of children with phenylketonuria, those with a history of early sensory restriction or isolation and those without, were compared on measures of (a) interpersonal behavior, (b) language comprehension, (c) intelligence, and (d) incidence and severity of personality disturbances. The findings, discussed in the context of sensory-deprivation and sensory-restriction research, supported the...
objective too much restriction of dietary proteins can cause severe protein malnutrition,which can occur in adjusting the diet for some kinds of aminoacidopathies, urea cycle disorder and organic academia. this report presents the case of a 1.5-year-old boy with history of phenylketonuria with a three weeks history of erythematous scaly plaques and edema of his extremities; he had a history of ...
Mutations in several genes cause nonautoimmune diabetes, but numerous patients still have unclear genetic defects, hampering our understanding of the development of the disease and preventing pathogenesis-oriented treatment. We used whole-genome sequencing with linkage analysis to study a consanguineous family with early-onset antibody-negative diabetes and identified a novel deletion in PCBD1 ...
Investigating the Factors Related to Psychological Well-Being of Parents with Phenylketonuria Children: A Systematic Review
OBJECTIVE Phenylketonuria (PKU) is a hereditary metabolic disorder that often results in neuropsychological impairment, even in individuals treated early and continuously. This study was conducted to examine processing speed, variability in processing speed, and the relationship between processing speed variables and executive abilities in children with early and continuously treated PKU. MET...
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