JIMD Reports, 2021 Background Reliable measurement of phenylalanine (Phe) is a prerequisite for adequate follow‐up of phenylketonuria (PKU) patients. However, previous studies have raised concerns on the intercomparability of plasma and dried blood spot (DBS) Phe results ...
Karlien L. M. Coene +16 more
doaj +1 more source
Highest Plasma Phenylalanine Levels in (Very) Premature Infants on Intravenous Feeding; A Need for Concern [PDF]
, 2015 Objective. To analyse the association in newborns between blood levels of phenylalanine and feeding method and gestational age. Study Design. This observational, cross-sectional study included a sample of 11,829 infants between 2008 and 2013 in a Spanish
Bosch-Giménez, Vicente +7 more
core +8 more sources
Central precocious puberty in a 3 year-old girl with Phenylketonuria: a rare association? [PDF]
, 2014 Background Central precocious puberty (CPP) and phenylketonuria (PKU) are two rare conditions, the latter being the rarer. To date, only one case featuring both these conditions has been reported, and hyperphenylalaninemia was assumed triggering CPP.
Donaldson, Malcolm +3 more
core +3 more sources
Molecular Genetics and Metabolism Reports, 2015 To determine the prevalence of 6R-Tetrahydrobiopterin (BH4) responsive phenylketonuria (PKU) in 53 cases of patients with various classification of hyperphenylalaninemia and PKU Excluding the BH4 deficient type referring to children's medical center in ...
Aria Setoodeh +4 more
doaj +1 more source
Unbalance between Excitation and Inhibition in Phenylketonuria, a Genetic Metabolic Disease Associated with Autism [PDF]
, 2017 Phenylketonuria (PKU) is the most common genetic metabolic disease with a well-documented association with autism spectrum disorders. It is characterized by the deficiency of the phenylalanine hydroxylase activity, causing plasmatic hyperphenylalaninemia
Andolina, Diego +8 more
core +2 more sources
Targeting mGlu5 metabotropic glutamate receptors in the treatment of cognitive dysfunction in a mouse model of phenylketonuria [PDF]
, 2018 We studied group-I metabotropic glutamate (mGlu) receptors in Pah(enu2) (ENU2) mice, which mimic the genetics and neurobiology of human phenylketonuria (PKU), a metabolic disorder characterized, if untreated, by autism, and intellectual disability (ID ...
Battaglia, Giuseppe +12 more
core +2 more sources
Molecular Therapy: Nucleic Acids, 2014 We have previously demonstrated the efficacy of antisense therapy for splicing defects in cellular models of metabolic diseases, suppressing the use of cryptic splice sites or pseudoexon insertions.
Lorena Gallego-Villar +6 more
doaj +1 more source
The incidence rate and gene mutation characteristics of hyperphenylalaninemia in Yunnan Province, Southwest China. [PDF]
Orphanet J Rare DisWang Q, Duan J, Zhao X, Qi Z.
europepmc +3 more sources
Tetrahydrobiopterin deficiencies: Lesson from clinical experience
JIMD Reports, 2021 Objectives The present study describes clinical, biochemical, molecular genetic data, current treatment strategies and follow‐up in nine patients with tetrahydrobiopterin (BH4) deficiency due to various inherited genetic defects.
Ayse Ergul Bozaci +10 more
doaj +1 more source
Evidence of Oxidative Stress and Secondary Mitochondrial Dysfunction in Metabolic and Non-Metabolic Disorders [PDF]
, 2017 : Mitochondrial dysfunction and oxidative stress have been implicated in the pathogenesis of a number of diseases and conditions. Oxidative stress occurs once the antioxidant defenses of the body become overwhelmed and are no longer able to detoxify ...
Angermuller +25 more
core +1 more source