Results 121 to 130 of about 2,204 (208)
Orphanet Journal of Rare Diseases, 2019 Background Phenylketonuria (PKU) is an inherited deficiency in the enzyme phenylalanine hydroxylase (PAH), which, when poorly-managed, is associated with clinical features including deficient growth, microcephaly, seizures, and intellectual impairment ...
K. F. Trefz +12 more
doaj +1 more source
Charakterisierung eines Mausmodells zur BH4-sensitiven Phenylketonurie [PDF]
, 2019 Phenylketonurie (PKU) ist eine angeborene Störung des Aminosäurestoffwechsels, die unbehandelt zu schweren neurologischen Schäden führt. In vielen Fällen ist die einzige mögliche Behandlungsoption eine streng eiweißarme Diät. Im Rahmen klinischer Studien
Eichinger, Anna
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Focus on rare diseases : The National Society for Phenylketonuria [PDF]
, 2019 Dr Michelle Muscat interviews Suzanne Ford, the Society Dietitian at The National Society for Phenylketonuria [NSPKU], in the UK.peer ...
Ford, Suzanne, Muscat, Michelle
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PSY47 Full Cost of Plasma from Voluntary Non Remunerated Donors in Italy [PDF]
, 2013 Aprili, G. +4 more
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Molecular mechanisms of PAH function in response to phenylalanine and tetrahydrobiopterin binding [PDF]
, 2016 Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism (IEM) caused by mutations in the phenylalanine hydroxylase (PAH) gene. The molecular mechanism underlying deficiency of the PAH protein is, in most of the cases, loss of function ...
Danecka, Marta Kinga
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FACTORS AFFECTING METABOLISM AND METABOLIC CONTROL IN PHENYLKETONURIA [PDF]
Phenylketonuria (PKU) is an inherited metabolic disorder treated by a phenylalanine restricted diet in order to avoid neurocognitive impairment. Blood phenylalanine is the main outcome marker which is modulated by many dietary factors.
Amorim Pinto, Alex
core +1 more source
The Connection of the Parental Understanding of Phenylketonuria and Demographic Information to Recommended Treatment Blood Levels of Phenylalanine of Children in their Care [PDF]
, 2012 Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism. In PKU phenylalanine cannot be converted to tyrosine; when phenylalanine levels remain elevated intellectual disabilities, as well as other side effects, can occur.
Clise, Megan Kathleen
core +1 more source