Associated Papers
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
A Genomic Sequencing Approach to Newborn Mass Screening and Its Opportunities.
Carli D et al.
Jama Network Open, 2025
Missense mutations in MMACHC protein from cblC disease affect its conformational stability and vitamin B12-binding activity: The example of R161Q mutation.
Longo L et al.
Molecular Genetics and Metabolism, 2025
Qatar's National Expanded Metabolic Newborn Screening Program: Incidence and Outcomes.
Jamaleddin T et al.
International Journal of Neonatal Screening, 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
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan.
Ahmed S et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2024
The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
Demaret T et al.
Molecular Genetics and Metabolism, 2024
Vitamin B12 Deficiency and the Nervous System: Beyond Metabolic Decompensation-Comparing Biological Models and Gaining New Insights into Molecular and Cellular Mechanisms.
Mathew AR et al.
International Journal of Molecular Sciences, 2024
Analysis of the causes of neonatal death and genetic variations in congenital anomalies: a multi-center study.
Yang X et al.
Frontiers in Pediatrics, 2024
Real-World Results from Combined Screening for Monogenic Genomic Health Risks and Reproductive Risks in 300 Adults.
Wildin RS et al.
Journal of Personalized Medicine, 2022
Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders.
Boonsawat P et al.
Npj Genomic Medicine, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.
Martín-Rivada Á et al.
Jimd Reports, 2022
Case report: A late-onset cobalamin C defect first presenting as a depression in a teenager.
Cheng S et al.
Frontiers in Genetics, 2022
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
A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.
Kaur R et al.
Amino Acids, 2021
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T et al.
International Journal of Neonatal Screening, 2020
Metabolic Serendipities of Expanded Newborn Screening.
Yahyaoui R et al.
Genes, 2020
The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.
Sloan JL et al.
Human Molecular Genetics, 2020
Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.
Wang C et al.
Molecular Genetics & Genomic Medicine, 2020
Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult.
Philipponnet C et al.
Bmc Nephrology, 2020
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots.
Weiss KJ et al.
Annals of Nutrition & Metabolism, 2020
Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations.
Keyfi F et al.
Molecular Biology Reports, 2019
A 7-Year Report of Spectrum of Inborn Errors of Metabolism on Full-Term and Premature Infants in a Chinese Neonatal Intensive Care Unit.
Zhang W et al.
Frontiers in Genetics, 2019
Hemiconvulsion-Hemiplegia-Epilepsy in a girl with cobalamin C deficiency.
Myers KA et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2018
Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.
Nair P et al.
Molecular Genetics & Genomic Medicine, 2018
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
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.
Brasil S et al.
Orphanet Journal of Rare Diseases, 2018
Renal thrombotic microangiopathy and pulmonary arterial hypertension in a patient with late-onset cobalamin C deficiency.
Petropoulos TE et al.
Clinical Kidney Journal, 2018
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.
Navarro D et al.
Cen Case Reports, 2018
APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients.
Guéant JL et al.
Nature Communications, 2018
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
Bacci GM et al.
Acta Ophthalmologica, 2017
Exome Pool-Seq in neurodevelopmental disorders.
Popp B et al.
European Journal of Human Genetics : Ejhg, 2017
Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome.
Ardissino G et al.
Case Reports in Pediatrics, 2017
Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.
Silver AJ et al.
Genetic Testing and Molecular Biomarkers, 2016
Successful intrauterine treatment of a patient with cobalamin C defect.
Trefz FK et al.
Molecular Genetics and Metabolism Reports, 2016
Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.
Koenig JC et al.
Pediatric Nephrology (berlin, Germany), 2015
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
Collison FT et al.
Ophthalmic Genetics, 2015
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Huemer M et al.
Orphanet Journal of Rare Diseases, 2014
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