Results 51 to 60 of about 2,693,578 (146)

Insights into energy balance dysregulation from a mouse model of methylmalonic aciduria [PDF]

, 2021
Inherited disorders of mitochondrial metabolism, including isolated methylmalonic aciduria (MMAuria), present unique challenges to energetic homeostasis by disrupting energy producing pathways. To better understand global responses to energy shortage, we
Gerlini, Raffaele; https://orcid.org/, Sauer, Sven; https://orcid.org/, Gailus-Durner, Valerie; https://orcid.org/, Froese, D Sean; https://orcid.org/, Kaech, Andres; https://orcid.org/, Baumgartner, Matthias R; https://orcid.org/, Dewulf, Joseph P; https://orcid.org/, Wueest, Stephan, Bommer, Guido T; https://orcid.org/, Forny, Patrick; https://orcid.org/, Irmler, Martin; https://orcid.org/, de Angelis, Martin Hrabě; https://orcid.org/, Traversi, Florian, Calzada-Wack, Julia; https://orcid.org/, Beckers, Johannes, Bürer, Céline, Forny, Merima, Fuchs, Helmut; https://orcid.org/, Aguilar-Pimentel, Antonio; https://orcid.org/, Kölker, Stefan, Rathkolb, Birgit; https://orcid.org/, Rozman, Jan; https://orcid.org/, Hoces, Daniel; https://orcid.org/, Lucienne, Marie, Helmut Fuchs, Matthias R. Baumgartner, Céline Bürer, Martin Irmler, Andres Kaech, Stefan Kölker, Guido T. Bommer, Patrick Forny, Martin Hrabě de Angelis, Stephan Wueest, Florian Traversi, Daniel Hoces, Julia Calzada-Wack, D Sean Froese, Merima Forny, Antonio Aguilar-Pimentel, Joseph P. Dewulf, Birgit Rathkolb, Marie Lucienne, Jan Rozman, Sven Sauer, Johannes Beckers, Valerie Gailus-Durner, Raffaele Gerlini   +47 more
core   +1 more source

Clinical Outcomes and Correlation With Biochemical Control in Hydroxocobalamin‐Treated Patients With Early‐Onset Cobalamin C Disease

JIMD Reports, Volume 67, Issue 3, May 2026.
ABSTRACT Cobalamin C (cblC) disease is the most common disorder of Vitamin B12 activation. The early‐onset form presents within the first few months of life, with some patients identified through newborn screening (NBS). However, despite early detection and optimal treatment, patient outcomes remain poor, with intellectual impairment and progressive ...
Arthavan Selvanathan, Ashley Hertzog, Jacqui Russell, Rosie Junek, Carolyn Ellaway, Kate Lichkus, Adviye Ayper Tolun, Kaustuv Bhattacharya   +7 more
wiley   +1 more source

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

RNA‐Based Therapies for Inherited Metabolic Disorders

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic disorders (IMDs) are a diverse and complex group of genetic conditions resulting from deficiencies in enzymes, transporters, or cofactors. These deficiencies lead to metabolic dysfunction and severe clinical consequences. Despite significant progress in understanding their molecular basis, treatment options remain limited ...
Reddy Sreekanth Vootukuri, Sonam Gurung, Roopkatha Ghosh, Philippa B. Mills, Julien Baruteau, Haiyan Zhou   +5 more
wiley   +1 more source

Organoids for Metabolic Disease Modeling

Journal of Inherited Metabolic Disease, Volume 49, Issue 2, March 2026.
ABSTRACT Inherited metabolic diseases (IMDs) are a diverse group of rare genetic disorders that disrupt metabolic pathways, leading to severe clinical manifestations. Disease models ranging from complex animal models to simple in vitro systems have provided insights into IMDs, but each has limitations.
Arif Ibrahim Ardisasmita, Edward Eelco Salomon Nieuwenhuis, Sabine Annemijn Fuchs   +2 more
wiley   +1 more source

Expanded Newborn Screening for Inborn Errors of Metabolism by Tandem Mass Spectrometry in Suzhou, China: Disease Spectrum, Prevalence, Genetic Characteristics in a Chinese Population

Frontiers in Genetics, 2019
Expanded newborn screening for inborn errors of metabolism (IEMs) by tandem mass spectrometry (MS/MS) could simultaneously analyze more than 40 metabolites and identify about 50 kinds of IEMs.
Ting Wang, Jun Ma, Qin Zhang, Ang Gao, Qi Wang, Hong Li, Jingjing Xiang, Benjing Wang   +7 more
doaj   +1 more source

The role of the gut microbiome in the regulation of high‐altitude adaptation

iMeta, Volume 5, Issue 1, February 2026.
This study is the first to elucidate mechanisms of high‐altitude adaptation from the perspective of the rumen ecosystem by using indigenous yaks and Holstein cows that have lived at high altitude since birth as comparative models. Through a systematic comparison of their rumen ecology using multi‐omics approaches—including rumen metagenomics ...
Xinyu Zhang, Senlin Zhu, Michael Kreuzer, Shoukun Ji, Wei Wang, Yanliang Bi, Shengli Li   +6 more
wiley   +1 more source

Biochemical Testing Promotes Interpretation of Variants of Uncertain Significance in Prenatal Genetic Disease Testing in Four Organic Acidurias

Clinical Genetics, Volume 109, Issue 2, Page 211-217, February 2026.
This review demonstrates how amniotic fluid biochemical testing provides critical phenotypic evidence (ACMG PP4) for reclassifying variants of uncertain significance (VUS) in prenatal organic acidurias. Integrating metabolite analysis with genetic testing enhances diagnostic accuracy and enables informed clinical decisions for affected families ...
Kaili Yin, Qingwei Qi
wiley   +1 more source

Methylmalonyl acidemia: from mitochondrial metabolism to defective mitophagy and disease

, 2020
Methylmalonic acidemia (MMA) is an autosomal recessive inborn error of metabolism due to the deficiency of mitochondrial MMUT (methylmalonyl-CoA mutase) - an enzyme that mediates the cellular breakdown of certain amino acids and lipids.
Devuyst, Olivier; https://orcid.org/, Devuyst, Olivier, Luciani, Alessandro, Devuyst O, Luciani A   +4 more
core   +1 more source

Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study

Orphanet Journal of Rare Diseases
Background Methylmalonic aciduria (MMA) is a group of rare genetic metabolic disorders resulting from defects in methylmalonyl coenzyme A mutase (MCM) or intracellular cobalamin (cbl) metabolism.
Ling Su, Huiying Sheng, Xiuzhen Li, Yanna Cai, Huifen Mei, Jing Cheng, Duan Li, Zhikun Lu, Yunting Lin, Xiaodan Chen, Minzhi Peng, Yonglan Huang, Wen Zhang, Li Liu   +13 more
doaj   +1 more source