Phenylketonurias

نتایج جستجو برای: Phenylketonurias

تعداد نتایج: 791 فیلتر نتایج به سال:

quality of life and the associated psychological factors in caregivers of children with pku.

Journal: :iranian journal of psychiatry 0

javad mahmoudi-gharaei department of psychiatry, roozbeh hospital, tehran university of medical sciences, tehran, iran department of psychiatry, child and adolescent consultation-liaison psychiatry unit, children medical center, tehran university of medical sciences, tehran, iran psychiatry and psychology research center, roozbeh hospital, tehran university of medical sciences, tehran, iran saeedeh mostafavi psychiatry and psychology research center, roozbeh hospital, tehran university of medical sciences, tehran, iran nargess alirezaei tehran psychiatry institute, tehran university of medical sciences, tehran, iran mental health research center, tehran university of medical sciences, tehran, iran

objectives: the main objective of this study was to investigate the association of psychological factors and life stressors with quality of life in caregivers of children with pku. methods: participants were caregivers of children with pku who were referred to a child and adolescent consultation-liaison psychiatry clinic for a clinical follow up. their demographic characteristics were recorded ...

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identification of a novel mutation in the pah gene in an iranian phenylketonuria family: a case report

Journal: :iranian journal of public health 0

masoumeh razipour daniz kooshavar elaheh alavinejad seyede zahra sajedi neda mohajer aria setoodeh

phenylketonuria (pku) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (pah) gene. pku has wide allelic heterogeneity. here we report a novel heterozygous substitution (c.1223g>t (p.arg408leu)) in the pah gene in an iranian pku family. the patient was 19-yr-old female with diagnosis of moderate...

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