Results 31 to 40 of about 73,449 (206)

Ethnic Bridging of Sepiapterin in Chinese and Korean Populations Based on Predictions From Genetic Polymorphism of Breast Cancer Resistance Protein. [PDF]

Clin Transl Sci
ABSTRACT Ethnic differences are crucial when considering the efficacy, safety, and dose of pharmaceuticals across diverse populations. The International Council for Harmonization of Technical Requirements for Pharmaceuticals for Human Use (ICH) guideline E5 addresses the acceptability of extrapolating foreign clinical data taking ethnic factors into ...
Gao L, Smith N, Kong R.
europepmc   +2 more sources

Evaluation of babies with hyperphenylalaninemia diagnosed in the National Newborn Screening Program in Istanbul in 2019

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, Melike Ersoy, Abdullah Emre Güner, Ibrahim Taş   +3 more
doaj   +1 more source

The effect of phenylalanine restricted diet on anthropometric parameters in classical phenylketonuria patients

Journal of Behçet Uz Children's Hospital, 2019
INTRODUCTION: Classical phenylketonuria (PKU) is an inherited disorder of amino acid metabolism disorder. The basis of treatment is a life-long phenylalanine restricted diet.
Engin Köse, Hatice Öztürk, Baransel Özdemir, Recep Eren Özçelik, Lütfiye Çiftçi, Kübra Çetin, Fatih Öztürk, Nur Arslan   +7 more
doaj   +1 more source

Executive Functioning of 4 Children With Hyperphenylalaninemia From Childhood to Adolescence

, 2015
Hyperphenylalaninemia is a variant of phenylketonuria, and debate remains as to what, if any, active management of this condition is required to preserve cognitive function and psychological well-being.
Sharman, R, Young, Ross, Sullivan, Karen A, McGill, Jim, Sharman, Rachael R., Sullivan, Karen A., Jones, Toni, Young, Ross McD.   +7 more
core   +1 more source

Management precautions for risk of obesity are necessary among infants with PKU carrying the rs113883650 variant of the LAT1 gene: A cross-sectional study.

PLoS ONE, 2022
Patients with phenylketonuria (PKU), an inborn error of phenylalanine metabolism, require consistent treatment to avoid the brain toxicity caused by hyperphenylalaninemia. The treatment consists of life-long use of a low-phenylalanine diet, which aims at
Miroslaw Bik-Multanowski, Bozena Didycz, Kinga Bik-Multanowska   +2 more
doaj   +2 more sources

Massive parallel sequencing as a new diagnostic approach for phenylketonuria and tetrahydrobiopterin-deficiency in Thailand

BMC Medical Genetics, 2017
Background Hyperphenylalaninemia (HPA) can be classified into phenylketonuria (PKU) which is caused by mutations in the phenylalanine hydroxylase (PAH) gene, and BH4 deficiency caused by alterations in genes involved in tetrahydrobiopterin (BH4 ...
Pongsathorn Chaiyasap, Chupong Ittiwut, Chalurmpon Srichomthong, Apiruk Sangsin, Kanya Suphapeetiporn, Vorasuk Shotelersuk   +5 more
doaj   +1 more source

Urine Phenylacetylglutamine Determination in Patients with Hyperphenylalaninemia [PDF]

, 2021
Phenylketonuria (PKU), an autosomal-recessive inborn error of phenylalanine (Phe) metabolism is the most prevalent disorder of amino acid metabolism. Currently, clinical follow-up relies on frequent monitoring of Phe levels in blood.
Frutos, Gorka de, Ceberio, Leticia, López-Oslé, Nuria, Fernando Andrade, Aznal, Elena, López-Oceja, Raquel, Nuria López-Oslé, Javier de las Heras, Andrade, Fernando, Ainara Cano, Arantza Arza, Domingo González-Lamuño, Ana Vinuesa, Vinuesa, Ana, Arza, Arantza, Leticia Ceberio, Gorka de Frutos, González-Lamuño Leguina, Domingo, Elena Aznal, Raquel López-Oceja, Unceta Suarez, María, Cano, Ainara, Heras, Javier de las, María Unceta Suarez   +23 more
core   +1 more source

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, Esra Er, Havva Yazici, Ebru Canda, Sema Kalkan Uçar, Merve Güvenc Saka, Cenk Eraslan, Hüseyin Onay, Sara Habif, Beat Thöny, Mahmut Coker   +10 more
doaj   +1 more source

Hyperphenylalaninemias genotyping: Results of over 60 years of history in Lombardy, Italy

Endocrinology, Diabetes & Metabolism, 2023
Background Hyperphenylalaninemias (HPA) are due to several gene mutations, of which the PAH gene is the most frequently involved. Prevalence and incidence of disease vary between populations, with genotype/phenotype correlations not always capable to ...
Valentina Rovelli, Graziella Cefalo, Vittoria Ercoli, Juri Zuvadelli, Turri Olivia, Daniela Graziani, Alberti Luisella, Davide Bassi, Alice Re Dionigi, Raed Selmi, Sabrina Paci, Elisabetta Salvatici, Giuseppe Banderali   +12 more
doaj   +1 more source

Beyond protective factors and normal IQ in preterm children: More executive disorders than expected

Journal of Neuropsychology, EarlyView.
Abstract Executive functions (EF) are vulnerable in preterm children. Owing to methodological issues, inconsistent findings have left some questions unresolved. This study implemented a theory‐guided, integrative EF assessment in preterm children. We also examined the impact of perinatal and sociodemographic features on EF disorder.
Olivier Cadeau, Jean‐Baptiste Muller, Amanda Guerra, Cécile Boscher, Anne Frondas, Jean‐Christophe Rozé, Cyril Flamant, Clair‐Yves Boquien, Laure Simon, Arnaud Roy   +9 more
wiley   +1 more source