Results 121 to 130 of about 32,659 (306)

Newborn screening using tandem mass spectrometry: A systematic review [PDF]

Objectives: To evaluate the evidence for the clinical effectiveness of neonatal screening for phenylketonuria (PKU) and medium-chain acyl-coA dehydrogenase (MCAD) deficiency using tandem mass spectrometry (tandem MS).
Beverley, C., Chilcott, J., Eastham, J., Paisley, S., Pandor, A.   +4 more
core  

Impact of Newborn Screening on Survival and Developmental Outcome in Classic Isovaleric Aciduria: A Meta‐Analysis

Journal of Inherited Metabolic Disease, Volume 48, Issue 6, November 2025.
ABSTRACT Classic isovaleric aciduria (cIVA) is a rare inherited metabolic disorder characterized by recurrent life‐threatening metabolic decompensations and neurocognitive impairment in untreated patients. This meta‐analysis aims to assess the impact of early diagnosis by newborn screening (NBS) on mortality and neurocognitive outcome.
Anna T. Reischl‐Hajiabadi, Sven F. Garbade, Florian Gleich, Elena Schnabel‐Besson, Roland Posset, Matthias Zielonka, Georg F. Hoffmann, Stefan Kölker, Ulrike Mütze   +8 more
wiley   +1 more source

Formulation and PEGylation optimization of the therapeutic PEGylated phenylalanine ammonia lyase for the treatment of phenylketonuria

PLoS ONE, 2017
Phenylketonuria (PKU) is a genetic metabolic disease in which the decrease or loss of phenylalanine hydroxylase (PAH) activity results in elevated, neurotoxic levels of phenylalanine (Phe).
S. Bell, D. Wendt, Yanhong Zhang, T. W. Taylor, Shinong Long, L. Tsuruda, Bin Zhao, Phillip Laipis, P. Fitzpatrick   +8 more
semanticscholar   +1 more source

Evaluation of Personal-Social Developmental Skills Levels in Children with Early Treated Phenylketonuria

Journal of Rehabilitation, 2013
Objective: This Study aimed to investigate the level of personal-social developmental skills in 1-4 years old children with early treated phenylketonuria.
Zahra Ghadbeigi, Firouzeh Sajedi, Akbar Biglariyan, Gita Movallali, Sepideh Nazi   +4 more
doaj  

Treatment of Phenylketonuria with a Diet Low in Phenylalanine [PDF]

, 1955
L. I. Woolf, Ruth Griffiths, Alan Moncrieff   +2 more
openalex   +1 more source

Toward Calibrating for Bottom Water Oxygenation Using Magnetofossils: New Insights From Southeast Atlantic and Northeast Pacific Surface Sediments

Geophysical Research Letters, Volume 52, Issue 20, 28 October 2025.
Abstract Accurate estimation of past ocean oxygen concentrations is vital for understanding the ocean's response to global climate change, but proxies for reconstructing bottom water oxygen (BWO) are limited. Magnetofossils, produced by magnetotactic bacteria, are sensitive to redox conditions in various environments.
Pengfei Xue, Liao Chang, Rong Huang, Babette A. A. Hoogakker, Liang Yi   +4 more
wiley   +1 more source

A New Phe-Free Protein Substitute Engineered to Allow a Physiological Absorption of Free Amino Acids for Phenylketonuria:

, 2018
An innovative technology (Physiomimic Technology) has been applied to amino acids (AAs) formulated for patients with phenylketonuria, with the objective of masking AA taste and odor and prolonging ...
Nadia Giarratana, G. Gallina, V. Panzeri, Alessandra Frangi, A. Canobbio, G. Reiner   +5 more
semanticscholar   +1 more source

Detection of Heterozygotes for Phenylketonuria by Column Chromatography and Discriminatory Analysis [PDF]

, 1969
Silvana K. Rampini, Phillipp Anders, H.‐Ch. Curtius, T.M. Marthaler   +3 more
openalex   +1 more source

Patient With Prolidase Deficiency due to an Homozygous PEPD Variant, Induced by Paternal Uniparental Isodisomy of Chromosome 19

American Journal of Medical Genetics Part A, Volume 197, Issue 10, October 2025.
ABSTRACT Uniparental disomy (UPD) is a rare phenomenon in which both copies of a chromosome are inherited from a single parent. This can lead to genomic imprinting disorders and recessive disorders due to the presence of recessive pathogenic variants in both alleles. Additionally, depending on the mechanisms by which UPD occurs, mosaic aneuploidies may
Marta Carreño‐Hidalgo, Raquel Muñoz‐Siles, Vanesa López‐González, Lidia Carreño‐Gago, Lluís Armengol Dulcet   +4 more
wiley   +1 more source

Phenylketonuria and Gut Microbiota: A Controlled Study Based on Next-Generation Sequencing

PLoS ONE, 2016
Phenylketonuria (PKU) is an inborn error of metabolism associated with high blood levels of phenylalanine (Phe). A Phe-restricted diet supplemented with L-amino acids is the main treatment strategy for this disease; if started early, most neurological ...
Felipe Pinheiro de Oliveira, R. Mendes, P. Dobbler, V. Mai, V. Pylro, Sheldon Waugh, F. Vairo, L. Refosco, L. Roesch, I. Schwartz   +9 more
semanticscholar   +1 more source