Results 31 to 40 of about 1,393 (127)
Sapropterin hydrochloride: enzyme enhancement therapy for phenylketonuria
Therapeutic Advances in Endocrinology and Metabolism, 2011 Phenylketonuria (PKU) is an inherited disorder of amino acid metabolism caused by deficiency of the enzyme phenylalanine hydroxylase (PAH). Historically PKU was a common genetic cause of severe learning difficulties and developmental delay, but with the ...
Robin Lachmann
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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
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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
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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
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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
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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
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Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
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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
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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 +5 more
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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 +4 more
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