Phenylketonuria

Phenylketonuria (PKU) is an inborn error of metabolism that results from a deficiency of phenylalanine hydroxylase (PAH). Discover the latest research on phenylketonuria here.

January 14, 2022

Allelic dropout in PAH affecting the results of genetic diagnosis in phenylketonuria.

Journal of Pediatric Endocrinology & Metabolism : JPEM
Lin WangXiaobin Wang
January 14, 2022

Frequency of PAH Mutations Among Classic Phenylketon Urea Patients in Mazandaran and Golestan Provinces, North of Iran.

Clinical Laboratory
Elaheh HosseiniS M Bagher Hashemi-Soteh
January 9, 2022

Disorders of Tetrahydrobiopterin Metabolism: Experience from South India.

Metabolic Brain Disease
Somdattaa RayS R Chandra
January 8, 2022

Clinical experience with orphan drugs for rare metabolic diseases.

Anales De Pediatría
Alicia Caso-GonzálezCarmen Obaldia-Alaña
January 8, 2022
Review

Role of misfolding in rare enzymatic deficits and use of pharmacological chaperones as therapeutic approach.

Frontiers in Bioscience (Landmark Edition)
Gioena PampaloneBarbara Cellini
January 3, 2022

The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrations.

Molecular Genetics and Metabolism
D van VlietF J van Spronsen
December 31, 2021

Preliminary Investigation of Microbiome and Dietary Differences in Patients with Phenylketonuria on Enzyme Substitution Therapy Compared to Traditional Therapies.

Journal of the Academy of Nutrition and Dietetics
Nicole McWhorterJessie Hoffman
December 28, 2021
Open Access

Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.

Frontiers in Neurology
Amelie S Lotz-HavlaEsther M Maier
December 25, 2021
Review

Health Related Quality of Life of Caregivers of Children and Adolescents With Phenylketonuria: A Systematic Review.

Global Pediatric Health
Deepa Shaji ThomasJudie Arulappan
December 22, 2021

Carboxy-terminal dendrimers with phenylalanine for a pH-sensitive delivery system into immune cells including T cells.

Journal of Materials Chemistry. B, Materials for Biology and Medicine
Hiroya ShibaChie Kojima
December 22, 2021

Mental health diagnoses in adults with phenylketonuria: a retrospective systematic audit in a large UK single centre.

Orphanet Journal of Rare Diseases
George AltmanGisela Wilcox
December 17, 2021

Cheating the Cheater: Suppressing False-Positive Enrichment during Biosensor-Guided Biocatalyst Engineering.

ACS Synthetic Biology
Vikas D TrivediNikhil U Nair
December 14, 2021

Untreated PKU patients without intellectual disability: SHANK gene family as a candidate modifier.

Molecular Genetics and Metabolism Reports
K KlaassenM Stojiljkovic
December 14, 2021

Quality of life in children living with PKU - a single-center, cross-sectional, observational study from Hungary.

Molecular Genetics and Metabolism Reports
Dóra BecseiPetra Zsidegh
December 7, 2021

The Impact of Phenylketonuria on Body Composition in Adults.

Annals of Nutrition & Metabolism
András Gellért BartaPéter Reismann

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