Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria
نویسندگان
چکیده
منابع مشابه
Pretreatment cognitive and neural differences between sapropterin dihydrochloride responders and non-responders with phenylketonuria
Sapropterin dihydrochloride (BH4) reduces phenylalanine (Phe) levels and improves white matter integrity in a subset of individuals with phenylketonuria (PKU) known as "responders." Although prior research has identified biochemical and genotypic differences between BH4 responders and non-responders, cognitive and neural differences remain largely unexplored. To this end, we compared intelligen...
متن کاملSapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency
10.1586/EEM.10.39 Phenylketonuria Phenylketonuria (PKU; Online Mendelian Inheritance in Man No. 262600) is a genetic disorder characterized by a deficiency of the hepatic enzyme phenylalanine-4-hydroxylase (PAH; EC 1.14.16.1), causing elevated concentrations of phenylalanine (Phe) in the blood and brain. Hyperphenylalaninemia (HPA) can also be caused by a deficiency of tetrahydrobiopterin (BH4)...
متن کاملResponders and non-responders to probiotic interventions
"Responders and non-responders to probiotic interventions" (2010).
متن کاملBrain perfusion in fibromyalgia patients and its differences between responders and poor responders to gabapentin
INTRODUCTION The aim of the present study was to determine the brain areas associated with fibromyalgia, and whether pretreatment regional cerebral blood flow (rCBF) can predict response to gabapentin treatment. METHODS A total of 29 women with fibromyalgia and 10 healthy women (without pain) matched for age were finally enrolled in the study. Technetium-99m ethyl cysteinate dimer single phot...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Molecular Genetics and Metabolism Reports
سال: 2017
ISSN: 2214-4269
DOI: 10.1016/j.ymgmr.2017.01.013