• A case of MTHFR deficiency characterized by adult-onset spastic paraplegia
• A Comprehensive Review: Epidemiological Strategies, Catheterization and Biomarkers used as a Bioweapon in Diagnosis and Management of Cardio Vascular Diseases
• A Methionine-Portioning-Based Medical Nutrition Therapy with Relaxed Fruit and Vegetable Consumption in Patients with Pyridoxine-Nonresponsive Cystathionine-β-Synthase Deficiency
• A novel amino acid metabolism-related gene signature to predict the overall survival of esophageal squamous cell carcinoma patients
• A Novel Finding of Increased ss-Aminoisobutyric Acid Levels in Classic Homocystinuria With Homocysteine-Lowering Treatment
• A refined total capsular bag suspension technique for lens subluxation from cystathionine beta-synthase deficiency: A case report and literature review
• 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
• Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection
• Acute Encephalopathy Caused by Inherited Metabolic Diseases
• Adolescent/Adult-Onset Leukodystrophy with MTHFR Deficiency - A Treatable Cause
• An adult with cystathionine beta-synthase deficiency, camptodactyly-arthropathy-coxa vara-pericarditis syndrome, and deafness: A case report
• An orally administered enzyme therapeutic for homocystinuria that suppresses homocysteine by metabolizing methionine in the gastrointestinal tract
• Analysis of 9 patients with adolescence-onset methylenetetrahydrofolate reductase deficiency
• Angiopathy and Stroke Associated with Homocystinuria in Childhood
• Artificial Hallucinations in ChatGPT: Implications in Scientific Writing
• Association of selected genetic variants in CBS and MTHFR genes in a cohort of children with homocystinuria in Sri Lanka
• Biochemical and structural impact of two novel missense mutations in cystathionine beta-synthase gene associated with homocystinuria
• Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas
• Carriers of autosomal recessive conditions: are they really 'unaffected?'
• Case report: Spontaneous bilateral intraocular lens dislocation in a patient with homocystinuria
• Cellular turnover and degradation of the most common missense cystathionine beta-synthase variants causing homocystinuria
• Classical homocystinuria presenting with transient basal ganglia pathology and dystonia
• Clinical and Molecular Genetic Analysis with Methylmalonic Acidemia Combined with Homocystinuria
• Clinical and Molecular Spectrum of Patients with Methylmalonic Acidemia
• Clinical exome sequencing uncovers a high frequency of Mendelian disorders in infants with stroke: A retrospective analysis
• Clinical, Biochemical and Molecular Features of a Cohort of 8 Patients with Inherited Disorders of Vitamin B12 Metabolism in a Metabolic Reference Center
• Cobalt-sulfur coordination chemistry drives B ₁₂ loading onto methionine synthase
• Cobalt-Sulfur Coordination Chemistry Drives B₁₂ Loading onto Methionine Synthase
• Combined Newborn Screening Allows Comprehensive Identification also of Attenuated Phenotypes for Methylmalonic Acidurias and Homocystinuria
• Concurrent combined methylmalonic acidemia and homocystinuria with down syndrome in a Chinese preschool Child: An in-depth case report and literature review
• Conquering homocystinuria with engineered probiotics
• Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy
• Current and Novel Therapeutical Approaches of Classical Homocystinuria in Childhood With Special Focus on Enzyme Replacement Therapy, Liver-Directed Therapy and Gene Therapy
• Cystathionine Beta-Synthase Deficiency: Three Consecutive Cases Detected in 40 Days by Newborn Screening in Emilia Romagna (Italy) and a Comprehensive Review of the Literature
• Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function
• Delayed diagnosis of homocystinuria presenting with coronavirus disease 2019 in a 17-year-old boy
• Dental complications in homocystinurias
• Development of a Universal Second-Tier Newborn Screening LC-MS/MS Method for Amino Acids, Lysophosphatidylcholines, and Organic Acids
• Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five <em>CBS</em> mutations found in Pakistani homocystinuria patients
• Development of low-cost in-house tetra-ARMS-PCR assay for the screening of five CBS mutations found in Pakistani homocystinuria patients
• Disease-causing cystathionine β-synthase linker mutations impair allosteric regulation
• Dysregulation of hepatic one-carbon metabolism in classical homocystinuria: Implications of redox-sensitive DHFR repression and tetrahydrofolate depletion for pathogenesis and treatment
• Efficacy and pharmacokinetics of betaine in CBS and cblC deficiencies: a cross-over randomized controlled trial
• Elevated homocysteine levels: What inborn errors of metabolism might we be missing?
• Estimating prevalence of classical homocystinuria in the United States using Optum's de-identified market clarity data
• Evaluation of the clinical, biochemical, and genetic presentation of neonatal and adult-onset 5,10-methylene tetrahydrofolate reductase (MTHFR) deficiency in patients from Pakistan
• Examination of two different proteasome inhibitors in reactivating mutant human cystathionine β-synthase in mice
• Familial Ectopia Lentis: Looking Beyond Marfan's Syndrome
• Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants
• Genetic Targeting of dSAMTOR, A Negative dTORC1 Regulator, during <em>Drosophila</em> Aging: A Tissue-Specific Pathology
• Homocysteine-a retrospective and prospective appraisal
• Homocystinuria diagnosis and management: it is not all classical
• Homocystinuria: a commentary
• Hyperhomocysteinemia
• Hyperhomocysteinemia
• Hyperhomocysteinemia and Accelerated Aging: The Pathogenic Role of Increased Homocysteine in Atherosclerosis, Osteoporosis, and Neurodegeneration
• Hyperhomocysteinemia in Adult Patients: A Treatable Metabolic Condition
• Implications of trimethylamine N-oxide (TMAO) and Betaine in Human Health: Beyond Being Osmoprotective Compounds
• Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect
• Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances
• Inborn errors of metabolism and pregnancy
• Influence of homocysteine and its major genetic and nutritional determinants on bone mineral density
• Interaction of Glutathione with MMACHC Arginine-Rich Pocket Variants Associated with Cobalamin C Disease: Insights from Molecular Modeling
• Intracardiac amorphous tumor presenting in a patient with homocystinuria; a case report with literature review
• Is More Effective Newborn Screening for Homocystinuria on the Horizon?
• Komrower Memorial Lecture 2023. Molecular basis of phenotype expression in homocystinuria: Where are we 30 years later?
• Late-onset 5,10-methylenetetrahydrofolate reductase deficiency with subacute disturbance of consciousness
• Late-onset cblC defect: clinical, biochemical and molecular analysis
• Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment
• Late-onset methylmalonic acidemia and homocysteinemia (cblC disease): systematic review
• Megaloblastic anemia with homocystinuria type cblE: Atypical presentation in a pediatric patient with high transfusion requirement and autoimmune phenomena
• METHYLATION-ASSOCIATED PATHWAYS IN MACULAR TELANGIECTASIA TYPE 2 AND OPHTHALMOLOGIC FINDINGS IN PATIENTS WITH GENETIC METHYLATION DISORDERS
• MTHFR gene polymorphisms in diabetes mellitus
• Multiplexing Homocysteine into First-Tier Newborn Screening Mass Spectrometry Assays Using Selective Thiol Derivatization
• Newborn screening in France: news and perspectives
• NON-TRAUMATIC ECTOPIA LENTIS IN A PAEDIATRIC OPHTHALMOLOGY PRACTICE, IBADAN, NIGERIA
• Novel compound heterozygous mutations of MTHFR Gene in a Chinese family with homocystinuria due to MTHFR deficiency
• One Cause, many Symptoms: The classical Homocystinuria
• Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias
• Paracetamol toxicity in classic homocystinuria: Effect of <em>N</em>-acetylcysteine on total homocysteine
• Paracetamol toxicity in classic homocystinuria: Effect of N-acetylcysteine on total homocysteine
• Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein
• Precision information extraction for rare disease epidemiology at scale
• Prescribing Glasses for Aphakia
• Prescribing Glasses for Aphakia
• Priapism in a Child from Homocystinuria from Methylenetetrahydrofolate Reductase MTHFR (C677T) Mutation
• Pulmonary phenotypes of inborn errors of metabolism
• Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor
• Recent therapeutic approaches to cystathionine beta-synthase-deficient homocystinuria
• Relationship between Bone Mineral Density and Selected Parameters of Calcium-Phosphate Economy with Dietary Management and Metabolic Control in Polish Pediatric Patients with Classical Homocystinuria-A Preliminary Study
• Renal Replacement Therapy in Methylmalonic Aciduria-Related Metabolic Failure: Case Report and Literature Review
• The live biotherapeutic SYNB1353 decreases plasma methionine via directed degradation in animal models and healthy volunteers
• The MMACHC variant c.158T&gt;C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients
• Tracheobronchomegaly (Mounier-Kuhn syndrome) and Bronchiectasis as rare manifestations of Homocystinuria
• Variable phenotypes and outcomes associated with the MMACHC c.482G &gt; A mutation: follow-up in a large CblC disease cohort
• Visual functions, ocular characteristics and visual quality of life in patients with homocystinuria
• Would, early, versus late hydroxocobalamin dose intensification treatment, prevent cognitive decline, macular degeneration and ocular disease, in 5 patients with early-onset cblC deficiency?