Results 51 to 60 of about 1,551 (187)
Phenylketonuria: nutritional advances and challenges
Nutrition & Metabolism, 2012 Despite the appearance of new treatment, dietary approach remains the mainstay of PKU therapy. The nutritional management has become complex to optimize PKU patients' growth, development and diet compliance.
Giovannini Marcello +4 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2018 Background Treatment of phenylketonuria (PKU) with sapropterin dihydrochloride in responsive patients from an early age can have many advantages for the patient over dietary restriction alone.
Ania C. Muntau +2 more
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Revista do Instituto de Medicina Tropical de São Paulo, 2021 Currently, the Milwaukee protocol presents healing results in human beings affected by the rabies virus. However, there are many points to clarify on the action of drugs and the immune mechanism involved in the evolution of the disease.
Caio Vinicius Botelho Brito +9 more
doaj +1 more source
The financial and time burden associated with phenylketonuria treatment in the United States
Molecular Genetics and Metabolism Reports, 2019 Background: Phenylketonuria (PKU) imposes a substantial burden on people living with the condition and their families. However, little is known about the time cost and financial burden of having PKU or caring for a child with the condition.
Angela M. Rose +6 more
doaj +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
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
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
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 +5 more
wiley +1 more source
Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.ABSTRACT Undoubtedly the nutritional management of inborn errors of protein metabolism (IEPM) has improved since the early 1950s, but it is still associated with significant patient burden. The pace of development has not kept up with the increasing demands of the ‘real world’ or development in other areas of medicine. It is essential that research and
Júlio César Rocha +2 more
wiley +1 more source
The Concise Guide to PHARMACOLOGY 2025/26: Enzymes
British Journal of Pharmacology, Volume 182, Issue S1, Page S307-S403, December 2025.The Concise Guide to Pharmacology 2025/26 marks the seventh edition in this series of biennial publications in the British Journal of Pharmacology. Presented in landscape format, the guide provides a comparative overview of the pharmacology of drug target families. The concise nature of the Concise Guide refers to the style of presentation, being clear,
Stephen P. H. Alexander +31 more
wiley +1 more source