Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
The Landscape of Genetic Variation and Disease Risk in Romania: A Single-Center Study of Autosomal Recessive Carrier Frequencies and Molecular Variants.
Gug M et al.
International Journal of Molecular Sciences, 2025
Accelerating the diagnosis of Chinese cblC type MMA patients by multiplex PCR sequencing method.
Zheng P et al.
Pediatric Research, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Mutation spectrum and genotype-phenotype correlation of pediatric patients with methylmalonic acidemia.
Lu F et al.
Pediatric Research, 2025
Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.
Fathi M et al.
Scientific Reports, 2025
Long-term follow-up of Chinese patients with methylmalonic acidemia of the cblC and mut subtypes.
Hao L et al.
Pediatric Research, 2025
Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type.
Mondesert E et al.
Heliyon, 2025
Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.
Olivieri G et al.
Journal of Inherited Metabolic Disease, 2025
Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.
Wu SN et al.
World Journal of Pediatrics : Wjp, 2024
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
Clinical and genetic analysis of methylmalonic aciduria in 60 patients from Southern China: a single center retrospective study.
Su L et al.
Orphanet Journal of Rare Diseases, 2024
Haplotype-based noninvasive prenatal diagnosis of methylmalonic acidemia and the discovery of a recurrent pathogenic haplotype associated with c.609G>A.
Fu X et al.
Prenatal Diagnosis, 2023
A multicenter prospective study of next-generation sequencing-based newborn screening for monogenic genetic diseases in China.
Yang RL et al.
World Journal of Pediatrics : Wjp, 2023
A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China.
Yang H et al.
Intractable & Rare Diseases Research, 2023
Clinical, phenotypic and genetic landscape of case reports with genetically proven inherited disorders of vitamin B12 metabolism: A meta-analysis.
Wiedemann A et al.
Cell Reports. Medicine, 2022
Application of the Artificial Intelligence Algorithm Model for Screening of Inborn Errors of Metabolism.
Zhou M et al.
Frontiers in Pediatrics, 2022
Non-cancer-related pathogenic germline variants and expression consequences in ten-thousand cancer genomes.
Wang Z et al.
Genome Medicine, 2021
PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.
Cavicchi C et al.
Clinical Epigenetics, 2021
Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review.
Karava V et al.
Children (basel, Switzerland), 2021
Clinical exome sequencing as the first-tier test for diagnosing developmental disorders covering both CNV and SNV: a Chinese cohort.
Dong X et al.
Journal of Medical Genetics, 2020
Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches.
Ji X et al.
Prenatal Diagnosis, 2019
Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency.
Topaloglu R et al.
Nephron, 2019
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.
Hu S et al.
Bmc Medical Genetics, 2018
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL et al.
Nature Communications, 2018
Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.
Almannai M et al.
Molecular Genetics and Metabolism, 2017
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.
Ahrens-Nicklas RC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.
Beck BB et al.
Pediatric Nephrology (berlin, Germany), 2017
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome.
Ardissino G et al.
Case Reports in Pediatrics, 2017
Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type.
Jorge-Finnigan A et al.
Biochimica Et Biophysica Acta, 2010
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
Liu MY et al.
Journal of Human Genetics, 2010
Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC).
Richard E et al.
Human Mutation, 2009
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP et al.
Human Mutation, 2009
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
Tsai AC et al.
American Journal of Medical Genetics. Part A, 2007
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay.
Yuen YP et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2007
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
Morel CF et al.
Molecular Genetics and Metabolism, 2006
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type.
Lerner-Ellis JP et al.
Nature Genetics, 2006
Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.
Whitaker AM et al.
Applied Neuropsychology. Child, 0
Dissecting the role of vitamin B12 metabolism in craniofacial development through analysis of clinical phenotypes and model organism discoveries.
Pinales BE et al.
Differentiation; Research in Biological Diversity, 0