Titlebook: JIMD Reports, Volume 37; Eva Morava,Matthias Baumgartner,Verena Peters Book 2017 Society for the Study of Inborn Errors of Metabolism (SSI

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Hyperphenylalaninemia Correlated with Global Decrease of Antioxidant Genes Expression in White Bloodisorders observed in patients, especially during adulthood when phenylalanine restrictive diets are not maintained. The aim of this study was to assess the antioxidant profile in a cohort of PKU patients in comparison to the controls and to evaluate its relation to biochemical parameters especially

碎石

The Impact of Fabry Disease on Reproductive Fitness,ports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to d

魅力

猛烈责骂

Treatment Adherence and Psychological Wellbeing in Maternal Carers of Children with Phenylketonuriaave examined the relationship between treatment compliance and parental wellbeing. In the present study, 46 primary caregivers of children with PKU completed measures of psychological distress, parenting stress (related to caring for a child with an illness), resilience, perceived social support and

思考

Substitution

Book 2017JIMD Reports publishes case and short research reports in the area of inherited metabolic disorders. Case reports highlight some unusual or previously unrecorded feature relevant to the disorder, or serve as an important reminder of clinical or biochemical features of a Mendelian disorder.

Heterodoxy

织物

978-3-662-56358-8Society for the Study of Inborn Errors of Metabolism (SSIEM) 2017

感染

JIMD Reports, Volume 37978-3-662-56359-5Series ISSN 2192-8304 Series E-ISSN 2192-8312

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