Associated Papers
Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families.
Aslam F et al.
Scientific Reports, 2026
Case Report: Preserved umbilical cords underscore family histories of inborn errors of immunity.
Nishimura M et al.
Frontiers in Immunology, 2025
Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.
Mao X et al.
Medicine, 2024
Cobalamin C Deficiency: An Uncommon Cause of Hemolytic Uremic Syndrome.
Singh K et al.
Indian Pediatrics, 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
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
Late-onset cobalamin C disease: rare but treatable.
Aliyar A et al.
Practical Neurology, 2022
Isolated psychiatric presentation of cobalamin C type disorder with novel mutation in middle childhood: A case report.
Chhajed M et al.
Asian Journal of Psychiatry, 2022
Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.
Huang X et al.
Orphanet Journal of Rare Diseases, 2022
Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.
Kalantari S et al.
Orphanet Journal of Rare Diseases, 2022
A capillary electrophoresis-based multiplex PCR assay for expanded carrier screening in the eastern Han Chinese population.
Hu P et al.
Npj Genomic Medicine, 2022
Case Report: A Case of Adult Methylmalonic Acidemia With Bilateral Cerebellar Lesions Caused by a New Mutation in MMACHC Gene.
Wang S et al.
Frontiers in Neurology, 2022
Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension.
Gupta A et al.
Indian Journal of Pediatrics, 2021
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.
Kaur R et al.
Amino Acids, 2021
Peripheral Nervous System Involvement in Late-Onset Cobalamin C Disease?
Chu X et al.
Frontiers in Neurology, 2020
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.
De Simone L et al.
Italian Journal of Pediatrics, 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
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
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
Carrillo-Carrasco N et al.
Journal of Inherited Metabolic Disease, 2012
Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria.
Liu MY et al.
Journal of Human Genetics, 2010
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.
Lerner-Ellis JP et al.
Human Mutation, 2009
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum.
Thauvin-Robinet C et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2008
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance.
Tsai AC et al.
American Journal of Medical Genetics. Part A, 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
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