Results 41 to 50 of about 1,126 (118)

Prominent renal complications associated with MMACHC pathogenic variant c.80A > G in Chinese children with cobalamin C deficiency

Frontiers in Pediatrics, 2023
ObjectiveCblC deficiency, the most common cobalamin metabolic abnormality, is caused by pathogenic variants in the MMACHC gene. The renal complications of this disease have been described only in a small number of cases.
Xiaoyu Liu, Huijie Xiao, Yong Yao, Suxia Wang, Hongwen Zhang, Xuhui Zhong, Yanling Yang, Jie Ding, Fang Wang   +8 more
doaj   +1 more source

A case series of Cypriot patients with CblC defect: Clinical, biochemical and molecular characteristics

Molecular Genetics and Metabolism Reports
Methylmalonic aciduria and homocystinuria, CblC type, is an inborn error of intracellular vitamin B12 (cobalamin) metabolism caused, in the majority of cases, by mutations in the MMACHC gene.
Theodoros Georgiou, Olga Grafakou, Anna Malekkou, Emilia Athanasiou, Ioannis Ioannou, Vivi Choleva, Maria Dionysiou, Gabriella Mavrikiou, Anthi Demetriadou, Violetta Anastasiadou, Anthi Drousiotou, Petros P. Petrou   +11 more
doaj   +1 more source

Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population

Scientific Reports, 2021
Expanded newborn screening facilitates early identification and intervention of patients with inborn errors of metabolism (IEMs), There is a lack of disease spectrum data for many areas in China.
Ruixue Zhang, Rong Qiang, Chengrong Song, Xiaoping Ma, Yan Zhang, Fengxia Li, Rui Wang, Wenwen Yu, Mei Feng, Lihui Yang, Xiaobin Wang, Na Cai   +11 more
doaj   +1 more source

Generation of a transgenic pluripotent stem cell line expressing MMACHC protein harbouring the renal 2 thrombotic microangiopapathy-causing mutation (p.Q27R)

Stem Cell Research
Mutations in the MMACHC (metabolism of cobalamin associated C) gene are associated with cobalamin C disorder and have been reported in infants with renal thrombotic microangiopaopathy (TMA).
Zhiqi Zhou, Xiao’e Zhang, Cuilan Hou, Ying Wu   +3 more
doaj   +1 more source

First National Expanded Genomic Newborn Screening Program in Qatar; A Pilot Study, Doha‐Heidelberg Collaboration

American Journal of Medical Genetics Part A, Volume 200, Issue 10, Page 2374-2380, October 2026.
Reem Alsulaiman, Sarah Okashah, Radja Messai Badji, Fatemeh Abbaszadeh, Yaser Alsarraj, Rehab Ali Abdulrahman, Noora Shahbeck, Thalib Moideen, Reema El Hassan, Fatima Al‐Hamaydeh, Einas Alkuwari, Said Ismail, Hilal Al‐ Rifai, Ghassan Abdoh, Christian P. Schaaf, Georg Hoffmann, Saad Al‐Kaabi, Wadha Al‐Muftah, Tawfeg Ben‐Omran   +18 more
wiley   +1 more source

The Evolution of Gene Sequencing Technologies: Unveiling Genetic Architecture of Nonsyndromic Orofacial Clefts

Genetics Research , Volume 2026, Issue 1, 2026.
Nonsyndromic orofacial clefts (NSOC) are common congenital craniofacial developmental defects. Current evidence suggests that genetic factors, environmental exposures, and their interactions jointly contribute to the development of the disease. Owing to the high heritability of NSOC, identifying susceptibility genes and loci is a central focus of ...
Haolang Zhao, Sidi Zhang, Haoyun Zhu, Zhonglin Jia, Irfan Ahmad   +4 more
wiley   +1 more source

A Glutathione‐Centered Prognostic Model Identifies a High‐Risk Inflammatory Toxicity Phenotype in Acute Myeloid Leukemia: Implications for Immune‐Related Adverse Events and Treatment Complications

International Journal of Clinical Practice, Volume 2026, Issue 1, 2026.
The widespread use of immunotherapies and combination regimens in acute myeloid leukemia (AML) has made immune‐related adverse events (irAEs), treatment‐associated inflammatory toxicities, and the differentiation between infection and sterile inflammation major clinical challenges.
Juyan Wang, Binge Li, Kang Zhang, Zhiru Liang, Zhirui Zeng   +4 more
wiley   +1 more source

B12‐Cofactor Inactivation by Cobalt to Rhodium Mutation in Methylrhodibalamin: An Antivitamin B12 and Antibiotic

ChemistryEurope, Volume 3, Issue 6, November 11, 2025.
Replacement of cobalt in the organometallic B12‐cofactor methylcobalamin (MeCbl) by rhodium furnishes a structural mimic with a significantly stronger metal–carbon bond. This synthetically challenging formal metal‐mutation converts the naturally optimized biological methyl‐transfer catalyst MeCbl into a designed antivitamin B12, an inactivated B12 ...
Florian J. Widner, Klaus Wurst, Markus Ruetz, Christoph Kieninger, Christoph Kreutz, Michael D. Paxhia, Evelyne Deery, Martin J. Warren, Bernhard Kräutler   +8 more
wiley   +1 more source

Analysis of clinical phenotype and genetic mutation with outcome evaluation in one family of vitamin B12-dependent methylmalonic aciduria

Chinese Journal of Contemporary Neurology and Neurosurgery, 2017
Objective To explore the clinical features, genetic mutation and vitamin B12 therapeutive effectiveness in vitamin B12-dependent methylmalonic acidemia (MMA).
LI Jing, Yi-ming SUN, Li-yu OU, Yu-ling ZHU, Liang WANG, Huan LI, Cheng ZHANG   +6 more
doaj  

Personalized Genome‐Scale Modeling Reveals Metabolic Perturbations in Fibroblasts of Methylmalonic Aciduria Patients

Journal of Inherited Metabolic Disease, Volume 48, Issue 5, September 2025.
ABSTRACT Cobalamin (vitamin B12) is an essential cofactor for two human enzymes, methionine synthase and methylmalonyl‐CoA mutase. Inborn errors of cobalamin metabolism (IECMs) are inherited genetic defects resulting in improper transport, modification, or utilization of cobalamin and include inherited methylmalonic acidurias, a group of IECMs most ...
Almut Heinken, Hussein Awada, Vito R. T. Zanotelli, D. Sean Froese, Rosa‐Maria Guéant‐Rodriguez, Jean‐Louis Guéant   +5 more
wiley   +1 more source