Amino acid metabolism, inborn errors

Results 131 to 140 of about 21,421 (302)

Functional Analysis of A Novel Splicing Mutation in The Mutase Gene of Two Unrelated Pedigrees

Cell Journal, 2016
Objective: Methylmalonic acidura (MMA) is a rare autosomal recessive inborn error of metabolism. In this study we present a novel nucleotide change in the mutase (MUT) gene of two unrelated Iranian pedigrees and introduce the methods used for its ...
Somayeh Ahmadloo +4 more
doaj

Disorders of Fatty Acid Oxidation in the Era of Tandem Mass Spectrometry in Newborn Screening

, 2008
With recent advances in laboratory technology with tandem mass spectrometry (MS/MS), the number of infants identified with a fatty acid oxidation disorder has increased dramatically.
Banta-Wright, Sandra A. +2 more
core +1 more source

Functional and Nutraceutical Properties of Protein and Polyphenols Extracted From Agro‐Industrial Waste: A Comprehensive Review

eFood, Volume 7, Issue 1, February 2026.
The article underscores the promising future perspectives of utilizing agro‐industrial waste, envisioning sustainable production processes, and meeting the increasing demand for environmentally friendly and health‐promoting products. ABSTRACT The growing imperative for increased food production has propelled an example alteration in the perception of ...
Fakhar Islam +9 more
wiley +1 more source

Argininosuccinic Aciduria: An Inborn Error of Amino Acid Metabolism [PDF]

Archives of Disease in Childhood, 1961
B, LEVIN, H M, MACKAY, V G, OBERHOLZER
openaire +2 more sources

The influence of rising carbon dioxide on maize development: genotypic differences in growth, lignification and folate pathway

Journal of the Science of Food and Agriculture, Volume 106, Issue 2, Page 1283-1298, 30 January 2026.
Abstract BACKGROUND Rising atmospheric carbon dioxide (CO2) is a key driver of climate change, making it essential to understand its effects on crop growth and metabolism. This study examines maize C01 (inbred) and B73 (mutant), under elevated CO2 (600, 1200 and 1800 ppm) at three growth stages [40, 70 and 90 days after sowing (DAS)].
Pirzada Khan +5 more
wiley +1 more source

Human medicines European public assessment report (EPAR): Ucedane, carglumic acid, Hyperammonemia,Amino Acid Metabolism, Inborn Errors, Date of authorisation: 23/06/2017, Revision: 5, Status: Authorised

Case Medical Research, 2019

semanticscholar +1 more source

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A, Volume 200, Issue 1, Page 205-214, January 2026.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 more
wiley +1 more source

Newborn screening for inborn errors of metabolism and endocrinopathies: an update [PDF]

, 2018
Newborn screening for inborn errors of metabolism and endocrinopathies has expanded during the last two decades, mainly owing to the introduction of new technologies such as tandem mass spectrometry and DNA analysis.
Fingerhut, Ralph, Olgemöller, Bernhard
core

Sex-based estimation of biological variation in plasma-free amino acid concentrations among healthy adults

Journal of Mass Spectrometry and Advances in the Clinical Lab
Introduction: Free amino acid (FAA) analysis plays a crucial role in diagnosing and monitoring inborn errors of metabolism, assessing nutritional status, and identifying metabolic imbalances associated with various diseases.
Müjgan Ercan +6 more
doaj +1 more source

Genetic Correction of the Most Common Mutation Causing Primary Hyperoxaluria Restores Enzyme Localization and Oxalate Metabolism

Journal of Inherited Metabolic Disease, Volume 49, Issue 1, January 2026.
ABSTRACT Our research aimed to model primary hyperoxaluria type 1 in vitro using a stem cell model and assess the potential of adenine base editors in correcting the most common pathogenic AGXT genetic variant, c.508G>A (Gly170Arg), which leads to oxalate accumulation due to alanine‐glyoxylate aminotransferase mislocalization.
Timo Keskinen +9 more
wiley +1 more source

amino acids
inborn errors of metabolism
3. good health

infant, newborn
chemistry
phenylketonurias

biology
infant
female