| 2025-Feb | CblJ | Dx, Treatment | Aslan D, et al | Cobalamin J disorder in a teenage boy with recurrent abdominal pain attacks: A case report and literature review | Article |
| 2025-Feb | cbl with MMA | Emergency Management | Tarr, J., Morris, A. | Emergency Management of Intoxication-Type Inherited Metabolic Disorders | Article |
| 2025-Feb | cblJ | Diagnosis | Aslan, D., Uctepe, E., et al | Cobalamin J disorder in a teenage boy with recurrent abdominal pain attacks: A case report and literature review | Article |
| 2023-Oct | cblC | Treatment | Olivieri, G., et al | Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect | Article |
| 2023-Jan | All Cbl | Basic Science | McCorvie, Thomas et al | The Complex Machinery of Human Cobalamin Metabolism | Article |
| 2023-Feb | cblG | Neurology | Gacita, A., Baker, J., et al | Reversible Dementia in an 18-Year-Old Woman Due to Undiagnosed Cobalamin-G Deficiency: A Case Report | Article |
| 2023-Aug | HCU | Dental | Chapman, K., et al | Dental complications in Homocystinurias | Article |
| 2022-Oct | cblC | Case Report | Zhou, L., et al | A teenager with combined methylmalonic aciduria and homocystiuria (cblC type) presenting with neurological symptoms and congenital heart diseases: a case report | Article |
| 2022-Mar | All Cbl | Treatment | Mutze, U., Gleich, F., et al | Postauthorization safety study of betaine anhydrous | Article |
| 2022-Feb | cblC | Treatment | Kacpura, A., et al | Clinical and Biochemical outcomes in cobalamin C deficiency with use of hig-dose hydroxocobalami in the early neonatal period | Article |
| 2020-Sept | All cbl | Newborn Screening | Adhikari, A., et al | The role of exome sequencing in newborn screening for inborn errors of metabolism | Article |
| 2019-July | cblC | Basic Science | Hoss, G., et al | Three Main Causes of Homocystinuria: CBS, cblC and MTHFR Deficiency. What do they have in common? | Article |
| 2019-Jan | All Cbl | Basic Science | Froese, S., et al | Vitamin B12 , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation | Article |
| 2019-Feb | HCU & MMA | Neurology | Cheng, A., et al | The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria | Article |
| 2019-Feb | All Cbl | Dx, Treatment | Heumer, M., et al | Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry | Article |
| 2018-Sept | All Cbl | Dx, Treatment | Sloan, J., et al | Disorders of Intracellular Cobalain Metabolism | Article |
| 2018-Aug | cblC | Kidney and Hematology | De Simone, L., et al | Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report | Article |
| 2016-Nov | cblC, D, E, F, G, J | Dx, Treatment | Heumer, M., et al | Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency | Article |
| 2016-Mar | cblC | Vision | Brooks, B., et al | Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency | Article |
| 2016-Feb | cblE, cblG | Newborn Screening | Wong, D., et al | Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening | Article |
| 2014-Dec | cblE, cblG | Case Report | Heumer, M., et al | Clinical onset and course, response to treatment and outcome in 24 patients with the cblE or cblG remethylation defect complemented by genetic and in vitro enzyme study data | Article |
| 2009-Sept | cblC | Newborn Screening | Weisfield-Adams, et al | Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methonine as a secondary screeing analyte | Article |
| 2009-Dec | cblC | Treatment | N Carrillo-Carrasco, et al | Hydroxocobalamin dose escalation improves metabolic control in cblC | Article |
