Reproductive experience of women living with phenylketonuria [PDF]
, 2018 Introduction: Many women with PKU are well-informed about the risks of maternal PKU but there are several barriers to achieving satisfactory metabolic control before and during pregnancy.
Ford, S. +5 more
core +1 more source
Bone Health in Adults with Phenylketonuria: A Cross-Sectional Study
Journal of Inborn Errors of Metabolism and Screening, 2021 Available literature documenting BMD in patients with PKU is mostly reported among heterogeneous populations including adults and children. We aim to describe the bone health status among adults (aged >18 years) affected with Phenylketonuria (PKU) and to
Anjali Aggarwal +4 more
doaj +1 more source
International Journal of Medical Biochemistry, 2022 INTRODUCTION: To evaluate the 2-year follow-up of hyperphenylalaninemia (HPA) patients born in 2019. METHODS: Growth, neuromotor development, and vitamin levels of 61 two-year-old babies followed up with the diagnosis of HPA in 2019 were evaluated ...
Pelin Savli +3 more
doaj +1 more source
Effectiveness of Methylcobalamin and Folinic Acid Treatment on Adaptive Behavior in Children with Autistic Disorder Is Related to Glutathione Redox Status [PDF]
, 2013 Treatments targeting metabolic abnormalities in children with autism are limited. Previously we reported that a nutritional treatment significantly improved glutathione metabolism in children with autistic disorder.
Amanda Hubanks +9 more
core +1 more source
Phenylketonuria (PKU) in adults
Acta Pediátrica de México, 2014 Monitoring phenylketonuria adult patients is an important subject which has created considerable interest in specialized metabolic clinics. The aim of this paper is to present an overview of the experience with these patients in the Unit of Metabolic ...
Mercedes Martínez-Pardo
doaj +1 more source
Pegvaliase for the treatment of phenylketonuria: A pivotal, double-blind randomized discontinuation Phase 3 clinical trial [PDF]
, 2018 Introduction Pegvaliase is a recombinant Anabaena variabilis phenylalanine ammonia lyase (PAL) enzyme under investigation for treatment of adult phenylketonuria (PKU).
Amato, R. Stephen +10 more
core +1 more source
Molecular Genetics and Metabolism, 2019 Phenylketonuria (PKU) is an inherited metabolic disease caused by phenylalanine hydroxylase (PAH) deficiency. As the resulting high blood phenylalanine (Phe) concentration can have detrimental effects on brain development and function, international guidelines recommend lifelong control of blood Phe concentration with dietary and/or medical therapy ...
Ania C. Muntau +17 more
openalex +7 more sources
Oral Sapropterin Increases Reflex Vasodilation but Not Cardiac Output During Passive Heating in Older Adults [PDF]
, 2016 Please refer to the pdf version of the abstract located adjacent to the ...
Alexander, L. +4 more
core +1 more source
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia [PDF]
, 2020 This is the peer reviewed version of the following article: Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Alcaide, Carlos +21 more
core +2 more sources
Metabolic control of patients with phenylketonuria in a portuguese metabolic centre comparing three different recommendations [PDF]
, 2021 Funding Information: Conflicts of Interest: M.F.A. received grants from Glutamine, Nutricia, Merck Serono, Biomarin, Orphan and Lifediet to attend scientific meetings. A.M.
Almeida, Manuela Ferreira +11 more
core +1 more source