Disease: Methylmalonic acidemia with homocystinuria
- A 13-Year-Old Boy With Subacute-Onset Spastic Gait
- A regionally adapted HRM-based technique to screen MMACHC carriers for methylmalonic acidemia with homocystinuria in Shandong Province, China
- A teenager with combined methylmalonic aciduria and homocystinuria (CblC type) presenting with neurological symptoms and congenital heart diseases: a case report
- Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant
- Abnormal chondrocyte intercalation in a zebrafish model of <em>cblC</em> syndrome restored by an MMACHC cobalamin binding mutant
- Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice
- Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection
- Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency
- Analysis of 70 patients with hydrocephalus due to cobalamin C deficiency
- Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome
- Clinical analysis of late-onset methylmalonic acidaemia and homocystinuria, cblC type with a neuropsychiatric presentation
- Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia
- Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China
- Co-occurrence of the Poland sequence in a patient with the cobalamin C defect: more than just a coincidence?
- Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation
- COBALAMIN C DEFICIENCY WITH INFANTILE SPASM AND CUTANEOUS FINDINGS: A UNIQUE CASE
- Cobalamin C Deficiency-Associated Pigmentary Retinopathy
- Cobalamin disorder CblC presenting with hemolytic uremic syndrome and pulmonary hypertension
- Cobalamin J disease detected on newborn screening: Novel variant and normal neurodevelopmental course
- Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients
- Combined Methylmalonic Aciduria and Homocystinuria Presenting as Pulmonary Hypertension
- Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
- Cranial Magnetic Resonance Imaging Findings in Hypotonic Infants with Cobalamin Deficiency and Combined Methylmalonic Aciduria and Homocystinuria
- Determination of Cytokines and Oxidative Stress Biomarkers in Cognitive Impairment Induced by Methylmalonic Acidemia
- Development of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids
- Development of Second-Tier Liquid Chromatography-Tandem Mass Spectrometry Analysis for Expanded Newborn Screening in Japan
- Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report
- Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
- Different Pattern of Cardiovascular Impairment in Methylmalonic Acidaemia Subtypes
- 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
- Effects of medical food leucine content in the management of methylmalonic and propionic acidemias
- Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population
- Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report
- First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type
- Generation of a Human iPSC line (SDQLCHi021-A) from a patient with methylmalonic acidemia cblC type carrying compound heterozygous mutations in MMAHC gene
- Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#
- Hemolytic Uremic Syndrome Due to Methylmalonic Acidemia and Homocystinuria in an Infant: A Case Report and Literature Review
- Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab
- Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias
- High-dose hydroxocobalamin achieves biochemical correction and improvement of neuropsychiatric deficits in adults with late onset cobalamin C deficiency
- Identification of MMACHC and ZEB2 mutations causing coexistent cobalamin C disease and Mowat-Wilson syndrome in a 2-year-old girl
- Impact of the inclusion of second-tier tests in the newborn screening program of Catalonia and in other international programs.
- Implementation of second-tier tests in newborn screening for the detection of vitamin B<sub>12</sub> related acquired and genetic disorders: results on 258,637 newborns
- Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
- Inborn errors of metabolism detectable by tandem mass spectrometry in Beijing
- Inherited defects of cobalamin metabolism
- Inherited metabolic diseases mimicking hereditary spastic paraplegia (HSP): a chance for treatment
- Isolated subacute combined degeneration in late-onset cobalamin C deficiency in children: Two case reports and literature review
- Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations
- Late-onset cobalamin C disease presenting with acute progressive polyneuropathy
- Late-onset methylmalonic acidemia and homocysteinemia
- Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type
- Methylmalonic Acidemia Complicated by Homocystinuria Diseases: a Report of Three Cases
- Methylmalonic acidemia with homocystinuria. A very rare cause of kidney failure in the neonatal period
- Methylmalonic acidemia: Current status and research priorities
- Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening
- Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria
- Mouse models to study the pathophysiology of combined methylmalonic acidemia and homocystinuria, cblC type
- Multiple sclerosis and intracellular cobalamin defect (<em>MMACHC</em>/<em>PRDX1</em>) comorbidity in a young male
- Mutation analysis, treatment and prenatal diagnosis of Chinese cases of methylmalonic acidemia
- Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review
- Mutations in Hcfc1 and Ronin result in an inborn error of cobalamin metabolism and ribosomopathy
- Neurodevelopmental and neuropsychiatric disorders in cobalamin C disease: a case report and review of the literature
- Neuropsychological implications of Cobalamin C (CblC) disease in Hispanic children detected through newborn screening
- Noninvasive prenatal diagnosis of cobalamin C (cblC) deficiency through target region sequencing of cell-free DNA in maternal plasma
- Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance
- Ocular findings in a patient with methylmalonic acidemia and homocystinuria
- Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency
- Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment
- Pilot Study on Neonatal Screening for Methylmalonic Acidemia Caused by Defects in the Adenosylcobalamin Synthesis Pathway and Homocystinuria Caused by Defects in Homocysteine Remethylation
- Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: a prospective cohort study
- Preimplantation Genetic Testing for Rare Inherited Disease of MMA-CblC: an Unaffected Live Birth
- Prenatal diagnosis of combined methylmalonic acidemia and homocystinuria cobalamin C type using clinical exome sequencing and targeted gene analysis
- Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC
- Prevalence of methylmalonic acidemia among newborns and the clinical-suspected population: a meta-analyse
- Prospective evaluation of pregnancy outcome in an Italian woman with late-onset combined homocystinuria and methylmalonic aciduria
- Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report
- Pulmonary embolism in a child with combined methylmalonic acidemia and homocystinuria
- Pulmonary hypertension in late-onset Methylmalonic Aciduria and Homocystinemia: a case report
- Rapid screening of MMACHC gene mutations by high-resolution melting curve analysis
- Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria
- Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications
- REVERSIBLE CLINICAL AND MAGNETIC RESONANCE IMAGING FINDINGS IN LATE-ONSET COBALAMIN C DEFECT
- Selective screening for inborn errors of metabolism by tandem mass spectrometry at Sohag University Hospital, Egypt
- Skin lesions in a patient with Cobalamin C disease in poor metabolic control
- 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
- Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism
- The correlation between the evolution of bilateral basal ganglia hemorrhage using MR imaging and neurological damage recovery in an infant with methylmalonic aciduria
- The Follow-Up of Chinese Patients in cblC Type Methylmalonic Acidemia Identified Through Expanded Newborn Screening
- The genotype analysis and prenatal genetic diagnosis among 244 pedigrees with methylmalonic aciduria in China
- The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans
- The remarkable S. Harvey Mudd - A reminiscence
- The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria
- The vitamin B12 processing enzyme, mmachc, is essential for zebrafish survival, growth and retinal morphology
- Toxic Metabolites and Inborn Errors of Amino Acid Metabolism: What One Informs about the Other
- Value of amniotic fluid homocysteine assay in prenatal diagnosis of combined methylmalonic acidemia and homocystinuria, cobalamin C type
- Variable phenotypes and outcomes associated with the MMACHC c.609G>A homologous mutation: long term follow-up in a large cohort of cases
- Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy
- Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea