Results 1 to 10 of about 68,473 (259)
BH4-deficient hyperphenylalaninemia in Russia
PLoS ONE, 2021 A timely detection of patients with tetrahydrobiopterin (BH4) -deficient types of hyperphenylalaninemia (HPABH4) is important for assignment of correct therapy, allowing to avoid complications.
Polina Gundorova +2 more
exaly +4 more sources
Frontiers in Genetics, 2022 Dopa-responsive dystonia (DRD) comprises a group of rare but treatable dystonias that exhibit diurnal fluctuation. The GCH1 gene encodes GTP cyclohydrolase-1 (GTPCH-І), a protein that catalyzes the first rate-limiting step of tetrahydrobiopterin ...
Yun Chen +4 more
doaj +2 more sources
Clinical and Genetic Characteristics of Patients with Mild Hyperphenylalaninemia Identified by Newborn Screening Program in Japan [PDF]
International Journal of Neonatal Screening, 2021 Phenylketonuria (PKU) and hyperphenylalaninemia (HPA), both identified in newborn screening, are attributable to variants in PAH. Reportedly, the p.R53H(c.158G>A) variant is common in patients with HPA in East Asia.
Shino Odagiri +8 more
doaj +2 more sources
Micronutrient in hyperphenylalaninemia
Data in Brief, 2015 The data presented here are the biochemical parameters of 156 patients with hyperphenylalaninemia. PKU patients, who, in order to maintain optimal serum Phe concentrations, receive dietary treatment consisting of a diet low in natural protein ...
Vanesa Crujeiras +8 more
doaj +4 more sources
Quantitative Ultrasound for the Assessment of Bone Quality in Hyperphenylalaninemia/Phenylketonuria Patients: Vitamin D Supplementation Versus No Supplementation [PDF]
MetabolitesBackground/Objectives: Skeletal impairment has been reported as a common finding in Hyperphenylalaninemia (HPA)/Phenylketonuria (PKU) patients regardless of age and method of diagnosis, both in children and adults.
Albina Tummolo +6 more
doaj +2 more sources
Cognitive functioning in mild hyperphenylalaninemia
Molecular Genetics and Metabolism Reports, 2015 Background: Hyperphenylalaninemia is a hereditary metabolic disorder that causes elevated blood phenylalanine (Phe). Hyperphenylalaninemias are classified as Phenylketonuria PKU (Phe > 6 mg/dL) or mild hyperphenylalaninemia (mHPA) (Phe 2–6 mg/dL).
Alicia de la Parra +4 more
doaj +4 more sources
Mutationen im PTS-Gen und mögliche Auswirkungen auf Funktion und Struktur der 6-Pyruvoyl-Tetrahydropterin-Synthase [PDF]
, 2002 Background: Research on Juvenile Idiopathic Arthritis (JIA) should support patients, caregivers/parents (carers) and clinicians to make important decisions in the consulting room and eventually to improve the lives of patients with JIA.
Preuße, Friedrich-Alexander +1 more
core +15 more sources
Di-san junyi daxue xuebao, 2021 Objective To explore the gene mutation frequency and characteristics of phenylalanine hydroxylase (PAH) in PAH deficiency children in some regions of Chongqing in order to provide scientific reference for the diagnosis and treatment of the disease ...
WANG Dongjuan +9 more
doaj +1 more source
Journal of Inborn Errors of Metabolism and Screening, 2021 Introduction: Any abnormal newborn screening (NBS) test should be subjected to appropriate diagnostic tests and should be followed. Once the newborn has been diagnosed and treated, the family should receive comprehensive genetic services.
Isabel Ibarra-González +6 more
doaj +1 more source
Frontiers in Genetics, 2022 Background: Pterin profiles or molecular analyses of hyperphenylalaninemia (HPA) caused by phenylalanine hydroxylase (PAH) deficiency or tetrahydrobiopterin deficiency (BH4D) are not always available in low- or middle-income countries, including Mexico ...
M. Vela-Amieva +10 more
doaj +1 more source