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Executive and social functioning in early- and continuously-treated patients with PKU: A follow-up study 10 years later

The main objective of this study is to examine the executive, social-cognitive, and social functioning and behaviour of 7-30 year old PKU patients in relation to history of treatment and treatment adherence. It is expected that there will be…

Newborn screening outcomes of mixed blessing

In this part of the project we use two 'categories' of test outcomes: false positives and positive test results for a metabolic disease that was not tested. Objectives of the study are to evaluate these categories of test outcomes by…

Evaluation of genetic, enzymatic, biochemical and clinical characteristics of OCTN2/CPT2/CACT/BKT deficiency to determine if new born screening is useful and feasible

To survey the clinical and biochemical characteristics of individuals diagnosed with OCTN2, CPT2, CACT or BKT deficiency or suspected with OCTN2 deficiency after NBS in the Netherlands to aid the decision on whether or not to include these disorders…

Executive and social functioning in patients with Tyrosinemia Type 1

Objective: The main objective of this study is to explore the executive, social-cognitive, and social functioning and behaviour of HT1 patients in relation to present and past tyrosine and phenylalanine levels, history of treatment and treatment…