敌意 发表于 2025-3-28 16:22:20
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Relationships Between Childhood Experiences and Adulthood Outcomes in Women with PKU: A Qualitativeldhood experiences on adulthood is well documented amongst the general population, the aim of this study was to explore childhood experiences considered significant by women with PKU as they relate to adult experiences and management of PKU, and psychological wellbeing..: Eight women with PKU in Soumembrane 发表于 2025-3-29 06:11:21
,The Effect of S-Adenosylmethionine on Self-Mutilation in a Patient with Lesch–Nyhan Disease,o an extremely high burden of disease in affected patients and families. Although allopurinol therapy can control hyperuricemia, it has no effect on self-mutilation and neurological symptoms. Single reports describe a beneficial effect of S-adenosylmethionine (SAM) on the neurological symptoms, whicrecede 发表于 2025-3-29 10:48:59
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Newborn Screening for Vitamin B6 Non-responsive Classical Homocystinuria: Systematical Evaluation ocess of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HCU newborn screening..: We reevaluated data from our newborn screening programme for Qatar in a total number of 125,047 neonates including 30 confirmed HCU patients. Our hitherto existing screening stPamphlet 发表于 2025-3-30 03:56:53
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