Case Report: Dilated cardiomyopathy as the initial presentation in an adult with late-onset CblC defect.

Incidence of Organic Acid Disorders in 13 Million Chinese Newborns: A Systematic Review and Meta-Analysis.

Cobalamin J Disorder in a Teenage Boy with Recurrent Abdominal Pain Attacks: A Case Report and Literature Review.

Underrecognized need for early detection of inborn errors of metabolism in China: A population-based study of 14.31 million residents (2012-2023).

Experimental insights into MMACHC variants using a novel minigene system.

Nutritional management of metabolic disorders in neonates and infants in Saudi Arabia: consensus recommendations.

Case Report: Cerebellar microhemorrhages: an underrecognized feature of MMA-HC revealed by high-field 7.0 T MRI.

[A case of cblF type methylmalonic aciduria and homocystinuria].

Analysis of hydroxocobalamin dosage in patients with CblC deficiency.

Clinical and molecular spectrum of patients with methylmalonic acidemia and homocysteinemia complicated by cardiovascular manifestations.

Retinal Changes in Early-Onset cblC Methylmalonic Acidemia Identified Through Expanded Newborn Screening: Highlights from a Case Study and Literature Review.

Variable phenotypes and outcomes associated with the MMACHC c.1A>G variant in Chinese patients with combined methylmalonic acidemia and homocystinuria cblC type.

Missense mutations in MMACHC protein from cblC disease affect its conformational stability and vitamin B12-binding activity: The example of R161Q mutation.

Propionyl Carnitine Metabolic Profile: Optimizing the Newborn Screening Strategy Through Customized Cut-Offs.

New genetic tools to define the pathophysiology of inborn errors of cobalamin metabolism impacting mammalian development.

Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients.

Clinical diagnosis, treatment, and genetic analysis of adolescent onset holocarboxylase synthetase deficiency and cobalamin C deficiency: A case report and literature review.

Retinal dimples in a case of adult-onset methylmalonic acidemia with homocystinuria: A new finding.

Methylmalonic acidemia with homocystinuria in acute myeloid leukemia: a case report.

Disorder of intracellular cobalamin metabolism: Importance of rapid diagnostic illustrated by a case report of early-onset methylmalonic aciduria and homocystinuria, cobalamin C type.

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

Kidney-Limited Microangiopathy Associated with Methionine Synthase (Cobalamin G) Deficiency in a Pediatric Patient: Case Report and Review of the Literature.

Late-onset renal TMA and tubular injury in cobalamin C disease: a report of three cases and literature review.

Evaluation of the clinical, biochemical, and molecular spectrum of Cobalamin C (CblC) defect in 33 patients from Pakistan.

Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect.

Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review.

Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review.

A novel amino acid metabolism-related gene signature to predict the overall survival of esophageal squamous cell carcinoma patients.

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.

Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria.

METHYLATION-ASSOCIATED PATHWAYS IN MACULAR TELANGIECTASIA TYPE 2 AND OPHTHALMOLOGIC FINDINGS IN PATIENTS WITH GENETIC METHYLATION DISORDERS.

Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review.

Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular Modeling.

Variable phenotypes and outcomes associated with the MMACHC c.482G > A mutation: follow-up in a large CblC disease cohort.

Clinical, Biochemical and Molecular Features of a Cohort of 8 Patients with Inherited Disorders of Vitamin B12 Metabolism in a Metabolic Reference Center.

Late-onset cblC defect: clinical, biochemical and molecular analysis.

Characteristics, differential diagnosis, individualized treatment, and prevention of hyperhomocysteinemia in newborns.

Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria.

Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia.

Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.

A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China.

Development of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids.

Abnormal chondrocyte intercalation in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.

Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection.

A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report.

Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.

Late-onset cobalamin C disease: rare but treatable.

Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other.

Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl.

Investigation on a MMACHC mutant from cblC disease: The c.394C>T variant.

Isolated psychiatric presentation of cobalamin C type disorder with novel mutation in middle childhood: A case report.

Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.

Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment.

The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China.

Inherited defects of cobalamin metabolism.

Intracellular processing of vitamin B12 by MMACHC (CblC).

Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region.

The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening.

Cranial Magnetic Resonance Imaging Findings in Hypotonic Infants with Cobalamin Deficiency and Combined Methylmalonic Aciduria and Homocystinuria.

Adult-onset CblC deficiency: a challenging diagnosis involving different adult clinical specialists.

Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature.

Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy.

Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt.

Prevalence of methylmalonic acidemia among newborns and the clinical-suspected population: a meta-analyse.

Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis.

Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension.

Determination of Cytokines and Oxidative Stress Biomarkers in Cognitive Impairment Induced by Methylmalonic Acidemia.

Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation.

PRDX1 gene-related epi-cblC disease is a common type of inborn error of cobalamin metabolism with mono- or bi-allelic MMACHC epimutations.

A 13-Year-Old Boy With Subacute-Onset Spastic Gait.

Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.

Late-onset methylmalonic acidemia and homocysteinemia.

Preimplantation Genetic Testing for Rare Inherited Disease of MMA-CblC: an Unaffected Live Birth.

Epimutation of MMACHC compound to a genetic mutation in cblC cases.

Implementation of second-tier tests in newborn screening for the detection of vitamin B12 related acquired and genetic disorders: results on 258,637 newborns.

The lysosomal protein ABCD4 can transport vitamin B12 across liposomal membranes in vitro.

Combined Genome, Transcriptome and Metabolome Analysis in the Diagnosis of Childhood Cerebellar Ataxia.

Redox-Linked Coordination Chemistry Directs Vitamin B12 Trafficking.

Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course.

Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type.

Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review.

MMADHC premature termination codons in the pathogenesis of cobalamin D disorder: Potential of translational readthrough reconstitution.

A high frequency and geographical distribution of MMACHC R132* mutation in children with cobalamin C defect.

Outcomes of patients with cobalamin C deficiency: A single center experience.

[Remethylation disorders: about two cases].

Ocular findings in a patient with methylmalonic acidemia and homocystinuria.

Expanded Screening of One Million Swedish Babies with R4S and CLIR for Post-Analytical Evaluation of Data.

Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.

Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency.

Mouse models to study the pathophysiology of combined methylmalonic acidemia and homocystinuria, cblC type.

Development of infantile tremor syndrome after initiation of hydroxycobalamin treatment in an infant with a late diagnosis of cobalamin C disorder.

Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases.

Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia.

The human B12 trafficking protein CblC processes nitrocobalamin.

Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report.

Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing.

Brain Circuit Alterations and Cognitive Disability in Late-Onset Cobalamin D Disorder.

Late-onset cobalamin C disease presenting with acute progressive polyneuropathy.

Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis.

The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology.

Cobalamin c deficiency associated with antifactor h antibody-associated hemolytic uremic syndrome in a young adult.

High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency.

Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene.

The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria.

Methylmalonic Acidemia Complicated by Homocystinuria Diseases: a Report of Three Cases.

Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma.

Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review.

Parenteral hydroxocobalamin dose intensification in five patients with different types of early onset intracellular cobalamin defects: Clinical and biochemical responses.

Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria.

Hyperhomocysteinemia: a trigger for complement-mediated TMA?

Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.

Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency.

Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series.

The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria.

Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria.

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.

Cobalamin D Deficiency Identified Through Newborn Screening.

Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants.

Pulmonary embolism in a child with combined methylmalonic acidemia and homocystinuria.

Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening.

Methylmalonic acidemia: Current status and research priorities.

Transcellular transport of cobalamin in aortic endothelial cells.

Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population.

Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea.

Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab.

Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations.

Serial Magnetic Resonance Imaging Changes in a Patient With Late-Onset Cobalamin C Disease With a Misdiagnosis of Metachromatic Leukodystrophy.

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome.

Identification of ABC transporters acting in vitamin B12 metabolism in Caenorhabditis elegans.

Skin lesions in a patient with Cobalamin C disease in poor metabolic control.

Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report.

Effects of medical food leucine content in the management of methylmalonic and propionic acidemias.

Mutation of the MMADHC gene in adult-onset cobalamin D deficiency: A report of 2 potentially treatable cases.

Quantitative Assessment of Microstructural Changes of the Retina in Infants With Congenital Zika Syndrome.

Thrombotic microangiopathy and breastfeeding: where is the link? Questions.

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Cobalamin disorder CblC presenting with hemolytic uremic syndrome and pulmonary hypertension.

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1.

Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.

X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid.

Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients.

Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening.

Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.

Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.

Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity.

The remarkable S. Harvey Mudd - A reminiscence.

REVERSIBLE CLINICAL AND MAGNETIC RESONANCE IMAGING FINDINGS IN LATE-ONSET COBALAMIN C DEFECT.

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE.

Cobalamin C Deficiency-Associated Pigmentary Retinopathy.

Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.

Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.

Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.

Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias.

Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases.

[Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria].

MMACHC gene mutation in familial hypogonadism with neurological symptoms.

Clinical characteristics of hemolytic uremic syndrome secondary to cobalamin C disorder in Chinese children.

Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.

[Combined methylmalonic acidemia and homocystinuria; a case report].

Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level.

Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance.

Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: a prospective cohort study.

Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.

Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.

[A case of late-onset cobalamin C disease (methylmalonic aciduria and homocystinuria, cobalamin C type)].

The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.