Results 81 to 90 of about 58,838 (349)

Fucosidosis: clinical and molecular findings of Turkish patients

The Turkish Journal of Pediatrics, 2022
Background. Fucosidosis is a rare, autosomal recessive lysosomal storage disease caused by alpha L- fucosidase enzyme deficiency in all tissues. Here, we identify a patient with a novel homozygous pathogenic variant and atypical clinical findings ...
Merve Emecen Şanlı, Serap Uysal
doaj   +1 more source

Metabolomics: a challenge for detecting and monitoring inborn errors of metabolism.

Annals of Translational Medicine, 2018
Timely newborn screening and genetic profiling are crucial in early recognition and treatment of inborn errors of metabolism (IEMs). A proposed nosology of IEMs has inserted 1,015 well-characterized IEMs causing alterations in specific metabolic pathways.
M. Mussap, M. Zaffanello, V. Fanos
semanticscholar   +1 more source

Marker Metabolite‐Based Multi‐Omics Analysis Identifies New Loci Controlling Thousand Seed Weight in Brassica Napus

Advanced Science, EarlyView.
Marker metabolite‐based multi‐omics (genome, transcriptome, and metabolome) analysis is conducted firstly to unravel the genetic basis of thousand seed weight (TSW) in Brassica napus. The released metabolite‐QTL‐gene network represents a valuable genetic resource, and the newly validated BnaTGA6 is a promising target for the improvement of TSW in ...
Long Li, Zhitao Tian, Xiaowei Wu, Zengdong Tan, Xu Han, Yuyan Xiang, Jie Chen, Hu Zhao, Wei Chen, Liang Guo, Xuan Yao   +10 more
wiley   +1 more source

Angelman syndrome and isovaleric acidemia: What is the link?

Molecular Genetics and Metabolism Reports, 2015
We report a toddler affected with Angelman syndrome and isovaleric acidemia (IVA). Such association was due to paternal uniparental isodisomy (UPD) of chromosome 15 in which the proband inherited two paternal copies of an IVA gene point mutation. As both
Alix Lambrecht, Samia Pichard, Hélène Maurey, Nuria Garcia Segarra, Séverine Drunat, Cécile Acquaviva-Bourdain, Sandrine Passemard, Jean-François Benoist, Anne-Laure Fauret-Amsellem, Manuel Schiff   +9 more
doaj   +1 more source

Reverse Phase-High Performance Liquid Chromatography: An Alternative to Expensive Tandem Mass Spectrometry Screening for Amino Acid Profiling in Dried Blood Spot in Resource Constrained Diagnostic Settings [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Background: Altered patterns of amino acid profiles are observed in various pathological conditions including nutrition related disorders, cancer, diabetes, urea cycle defects, mitochondrial respiratory chain disorders, and aminoacidopathies.
Prajna P Shetty , Ysphaneendramallimoggala , Brijesh Naik , Leslie Lewis , Nalini K , Pragna Rao   +5 more
doaj  

Treatment of inborn errors of metabolism [PDF]

Molecular Cytogenetics, 2014
Inborn errors of metabolism (IEM), though individually rare are collectively common. Average incidence of 50+ common IEMs is considered to be approx 1 in 1,000 live births. With annual birth rate of approximately 25 million babies in India, we can expect at least 25,000 babies being born with IEM in India and hence it is a significant burden to the ...
openaire   +3 more sources

A Forward Genetics Strategy for High‐Throughput Gene Identification via Precise Image‐Based Phenotyping of an Indexed EMS Mutant Library

Advanced Science, EarlyView.
The GeneHunter‐Gene‐Level Association (GH‐GLA) pipeline enables high‐throughput gene identification in an indexed EMS population of wheat cultivar KN9204. It identifies 5905 trait‐associated wheat genes and validates key regulators of kernel weight and spikelet architecture via gene editing and haplotype analysis.
Haojie Wang, Fujun Sun, Zeyu Shi, Yufeng Yang, Yi Ding, Tengteng Zhang, Caihong Zhao, Jingzhong Xie, Yaqian Zhang, Caihua Li, Wenqiang Tang, Junming Li, Xigang Liu, Shusong Zheng, Ni Jiang, Fei He, Shuzhi Zheng   +16 more
wiley   +1 more source

Neonates with acute liver failure have higher overall mortality but similar posttransplant outcomes as older infants

Liver Transplantation, EarlyView., 2022
Abstract Neonatal acute liver failure (ALF) carries a high mortality rate; however, little data exist on its peritransplant hospital course. This project aimed to identify factors associated with outcomes in neonates with ALF using large multicenter databases.
Swati Antala, Bridget Whitehead, Justin Godown, Matt Hall, Anna Banc‐Husu, Estella M. Alonso, Sarah A. Taylor   +6 more
wiley   +1 more source

Dissociation of AGAT, GAMT and SLC6A8 in CNS: Relevance to creatine deficiency syndromes

Neurobiology of Disease, 2010
AGAT and GAMT, the two enzymes of the creatine synthesis pathway, are well expressed within CNS, suggesting autonomous brain creatine synthesis. This contradicts SLC6A8 deficiency, which causes creatine deficiency despite CNS expression of AGAT and GAMT.
Olivier Braissant, Elidie Béard, Céline Torrent, Hugues Henry   +3 more
doaj   +1 more source

INBORN ERRORS OF METABOLISM

Nutrition Reviews, 2009
Abstract Understanding metabolic disease can be difficult in its own right. Under stressful situations such as those involving a sick infant, it becomes much more difficult. This resource is a talk whose purpose is to provide a simple framework with which to expeditiously diagnose a sick child who has a metabolic disorder.
openaire   +5 more sources