Results 71 to 80 of about 2,156 (206)

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

Re‐thinking peripheral dysfunctions in obesity: The emerging role of sulphaceutics and sulphanutraceutics

British Journal of Pharmacology, EarlyView.
Obesity is a chronic, relapsing, multisystem disease in which cardiometabolic risk arises from excess adiposity and progressive dysfunction of peripheral organs, ultimately disrupting endocrine and metabolic crosstalk among tissues. Within this network, sulphur‐based biology, centred on hydrogen sulphide and related reactive sulphur species, has ...
Martina Smimmo, Veronica Casale, Roberta d'Emmanuele di Villa Bianca, Valentina Vellecco, Mariarosaria Bucci   +4 more
wiley   +1 more source

Intermittent hand and forearm immersion in 20°C water attenuates thermal, cardiovascular, and perceptual strain in older adults during heat stress

Experimental Physiology, EarlyView.
Abstract Adults >65 years of age experience deleterious health effects during extreme heat events at a greater rate than any other age cohort. The purpose of this study was to identify the effectiveness of acute intermittent hand and forearm (H+F) water immersion and/or chronic (7 week) folic acid supplementation on reducing thermal and cardiovascular ...
Rachel M. Cottle, Kat G. Fisher, Olivia K. Leach, David E. Conroy, Lacy M. Alexander, W. Larry Kenney   +5 more
wiley   +1 more source

Developmental and Phenotypic Outcomes in Mild Phenylalanine Hydroxylase Deficiency

American Journal of Medical Genetics Part A, Volume 200, Issue 8, Page 1814-1820, August 2026.
ABSTRACT Benign hyperphenylalaninemia (bHPA) is defined as elevated phenylalanine (Phe) levels remaining ≤ 360 μmol/L (6 mg/dL) and not requiring medical intervention. Individuals with bHPA may demonstrate a rise in their Phe levels > 360 μmol/L, effectively developing a mild PKU phenotype requiring therapy to prevent neurocognitive complications. This
Aaron Williams, Kristian Divin, Lindsay C. Burrage, William J. Craigen, Fernando Scaglia, Claudia Soler‐Alfonso, V. Reid Sutton, Kevin E. Glinton, Ronit Marom   +8 more
wiley   +1 more source

Vitamin‐Responsive Disorders: From Molecular Basis to Clinical Presentation and Therapy

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Vitamin‐dependent cofactors are essential for numerous metabolic reactions, and defects affecting their uptake, conversion, utilisation, or regeneration constitute a heterogeneous group of inherited metabolic disorders (IMDs). Although dietary vitamin intake is sufficient to sustain coenzyme synthesis in healthy individuals, it is insufficient
Cécile Acquaviva, Yann Nadjar, Manuel Schiff, Christine Vianey‐Saban, Alain Fouilhoux, Jean‐François Benoist   +5 more
wiley   +1 more source

Mapping the Severity of Phenylalanine Hydroxylase Deficiency

Journal of Inherited Metabolic Disease, Volume 49, Issue 4, July 2026.
ABSTRACT Since the 1960s, phenylalanine hydroxylase (PAH) deficiency can be detected via newborn screening, allowing early start of treatment to prevent severe intellectual disability. Precise determination of PAH deficiency severity continues to be hampered by several factors.
S. Haitjema, E. M. van Steenis, C. M. A. Lubout, M. R. Heiner‐Fokkema, J. Zschocke, F. J. van Spronsen   +5 more
wiley   +1 more source

Tetrahydrobiopterin responsiveness in a series of 53 cases of phenylketonuria and hyperphenylalaninemia in Iran

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, Bahram Yarali, Ali Rabbani, Shohreh Khatami, Sedigheh Shams   +4 more
doaj   +1 more source

The first study of successful pregnancies in Chinese patients with Phenylketonuria

BMC Pregnancy and Childbirth, 2020
Background Since the inception of newborn screening programs in China in the 1990s, pregnancy among patients with inherited, metabolic disorders has become more common.
Lin Wang, Fang Ye, Hui Zou, Kundi Wang, Zhihua Chen, Qin Hui, Bingjuan Han, Chun He, Xiaowen Li, Ming Shen   +9 more
doaj   +1 more source

More Than a Question of Correlation: Characterization of the Evidentiary Basis for Biomarker Surrogates Used in European Marketing Authorizations

Clinical Pharmacology &Therapeutics, Volume 119, Issue 6, Page 1522-1536, June 2026.
Traditionally, clinical outcomes measuring how a patient feels, functions, or survives are preferred endpoints in clinical trials; however, some may take a long time to manifest in slowly developing diseases. Biomarkers, if properly validated, can serve as surrogate endpoints, acting as substitutes for clinical outcomes.
Renske Johanna Grupstra, Viktoriia Starokozhko, Elisabeth Bakker, Anna Maria Gerdina Pasmooij, Peter Gerardus Maria Mol   +4 more
wiley   +1 more source

Increased Brown Adipose Tissue Thermogenesis in Phenylketonuria

MedComm, Volume 7, Issue 6, June 2026.
In phenylketonuria (PKU), elevated phenylalanine (Phe) increases hepatic fibroblast growth factor 21 (FGF21) and thyroid hormones, enhancing brown adipose tissue (BAT) thermogenesis in patients. Central FGF21 reproduces this phenotype in rodents via reduced hypothalamic AMP‐activated protein kinase (AMPK) activity in the ventromedial nucleus of the ...
Noemí López‐Rey, Alba Cabaleiro, María P. Pata, Marion Peyrou, Ánxela Estévez‐Salguero, Paola Fernández‐Sanmartín, Donald A. Morgan, Vitor Ferreira, Paula Sánchez‐Pintos, Cintia Folgueira, Carlos Diéguez, Adela Urisarri, Ismael González‐García, Luisa M. Seoane, Kamal Rahmouni, Francesc Villarroya, María L. Couce, Rubén Nogueiras, Miguel López   +18 more
wiley   +1 more source