Results 111 to 120 of about 4,590,707 (207)

Stable isotopes in the management and diagnosis of inborn errors of metabolism

, 1990
Stable isotope techniques offer advantages over older methods in safety, sensitivity, specificity, and reduction in number of subjects required for analytic determinations in some types of studies in "inborn errors of metabolism." In addition to their ...
Howard G. Parsons
core   +1 more source

Histidine Supplementation Stabilizes Hearing and Vision and Improves Growth in HARS1‐Related Autosomal Recessive Disorder Associated With Usher‐Like Symptoms

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2289-2308, October 2026.
ABSTRACT Autosomal recessive HARS1‐related disorder (originally described as Usher syndrome type 3B) caused by a homozygous Y454S variant in the histidyl‐tRNA synthetase gene (HARS1) is characterized by progressive sensorineural hearing and vision loss and respiratory deterioration with risk for sudden death following febrile illnesses.
Victoria Mok Siu, Rosan Kenana, Rana Chakrabarti, Sarah D. P. Wilhelm, Joseph Andrews, Susan J. Leat, Christina Parker, Michael Miller, Leslie A. Nangle, Wendy McCaul, Ashfia Chowdhury, Natalie Hutchings, Ryan A. Adams, Lauren Guy, Mandy Rhody, Verena Juncal, Marisa I. Mendes, Desiree E. C. Smith, Gajja S. Salomons, Angelica A. Moresco, Daphne L. McCulloch, D. Holmes Morton, Ilka U. Heinemann, C. Anthony Rupar   +23 more
wiley   +1 more source

Disease spectrum, prevalence, genetic characteristics of inborn errors of metabolism in 21,840 hospitalized infants in Chongqing, China, 2017-2022

Frontiers in Genetics
Inborn errors of metabolism (IEMs) are uncommon. Although some studies have explored the distribution and characteristics of IEMs in newborns, the impact of these disorders on hospitalized newborns remains unclear. In this study, we gathered data from 21,
Dongjuan Wang, Juan Zhang, Rui Yang, Dayong Zhang, Ming Wang, Chaowen Yu, Jingli Yang, Wenxia Huang, Shan Liu, Shi Tang, Xiaoyan He   +10 more
doaj   +1 more source

Intermediate‐Phenotype ABCA3 Deficiency Caused by Compound Heterozygous Variants Presenting as Persistent Respiratory Failure and Systemic Hypertension Since Birth in a Term Infant: A Case Report

Clinical Case Reports, Volume 14, Issue 10, October 2026.
ABSTRACT ABCA3 deficiency should be suspected in term infants with persistent respiratory distress from birth. This case highlights how early whole‐exome sequencing established the diagnosis after extensive investigations, identified an intermediate phenotype caused by compound heterozygous variants, and guided targeted multidisciplinary management.
Ammir Abuzahra, Mohamad Abu Mayalah, Mahmoud Abdelrazzaq Abu Mayaleh, Amani Daabes, Rafad Y. Dweik, Abdelrazzaq Abu Mayaleh   +5 more
wiley   +1 more source

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, Saeed Talebi, Mohammad Miryounesi, Parvin Pasalar, Mohammad Keramatipour   +4 more
doaj  

Expression of COL6A1 in Tumor Matrix of Cholangiocarcinoma and Its Mechanism of Tumor Progression

Cancer Reports, Volume 9, Issue 10, October 2026.
ABSTRACT Background Cholangiocarcinoma (CCA), a malignant tumor originating from the bile duct epithelial cells, is characterized by aggressive invasion and poor prognosis. Abnormal remodeling of the tumor microenvironment plays a pivotal role in its disease progression.
Weibin Zhang, Chongshi Gao, Chongzhou Lan, Jia Dong, Boxing Xu, Yingmei Li, Jin Dai, Baitong Che, Cheng Li, Gang Dong, Yunfei Wu, Bo Li, Cheng Yang, Lingmei Kong   +13 more
wiley   +1 more source

Population Genomic Analysis in Wild Medaka Populations: Identifying Candidate Loci for Balancing Selection

Ecology and Evolution, Volume 16, Issue 10, October 2026.
We explored genomic signatures of balancing selection and selective sweep in the northern medaka, Oryzias sakaizumii in Japan by performing whole‐genome resequencing of wild individuals. In addition, we reevaluated the population genetic structure and admixture of Oryzias latipes and O.
Shingo Fujimoto, Taijun Myosho, Hirozumi Kobayashi, Hiroaki Aoyama, Iki Murase, Bayu K. A. Sumarto, Mitsuharu Yagi, Taiga Kunishima, Masatoshi Matsunami, Ryosuke Kimura   +9 more
wiley   +1 more source

Inborn Errors of Fructose Metabolism. What Can We Learn from Them?

, 2017
Fructose is one of the main sweetening agents in the human diet and its ingestion is increasing globally. Dietary sugar has particular effects on those whose capacity to metabolize fructose is limited.
Christel Tran, Tran, C., Tran C
core   +1 more source

Phenotype‐guided etiologic workup in a prospective cohort of 144 adults with developmental and epileptic encephalopathy

Epilepsia Open, Volume 11, Issue 5, Page 1635-1650, October 2026.
Abstract Objectives Adults with developmental and epileptic encephalopathies (DEEs) often enter adult neurology care without etiologic clarification because of incomplete transition from pediatric services, outdated investigations, and attenuation of childhood electro‐clinical features over time.
Giuseppe d’Orsi, Umberto Costantino, Maria Teresa Di Claudio, Carmela Pia Ferro, Pietro Palumbo, Mario Benvenuto, Massimiliano Copetti, Leonardo D'Agruma, Massimo Carella, Marco Castori, Orazio Palumbo   +10 more
wiley   +1 more source

A randomized controlled trial of a multimodality digital health intervention to aid the delivery of the modified ketogenic diet therapy for epilepsy: The Keto eCoach trial protocol

Epilepsia Open, Volume 11, Issue 5, Page 1718-1728, October 2026.
Abstract Objective Dietary therapy is an effective treatment for drug‐resistant epilepsy; however, low adherence presents a significant barrier to use in the clinical setting. This study aims to evaluate a multimodality digital health intervention to overcome this barrier and improve outcomes in adults undertaking the modified ketogenic diet for ...
Neha Kaul, Lucy Vivash, Susanna Chen, Lillian King, Hannah Johns, Leonid Churilov, Zhibin Chen, John‐Paul Nicolo, Danielle Heaven, Ella Meredith, Ryan Ervine, Lisa Todd, Bernadette Zappa, Zanfina Ademi, Gopisankar Mohanannair Geethadevi, Michael Erlichster, Efstratios Skafidas, Terence J. O'Brien, Patrick Kwan   +18 more
wiley   +1 more source