methylmalonic acid and hydroxocobalamin

methylmalonic acid has been researched along with hydroxocobalamin in 48 studies

Research

Studies (48)

Timeframe	Studies, this research(%)	All Research%
pre-1990	10 (20.83)	18.7374
1990's	10 (20.83)	18.2507
2000's	15 (31.25)	29.6817
2010's	8 (16.67)	24.3611
2020's	5 (10.42)	2.80

Authors

Authors	Studies
Lebowitz, J; Mahoney, MJ; Mathews, C; Morrow, G	1
Bellini, C; Bonacci, W; Caruso, U; Cerone, R; Fowler, B; Magliano, CP; Romano, C; Serra, G	1
Bain, MD; Chalmers, RA; Mistry, J; Tracey, BM; Weaver, C	1
Allen, RH; Brass, EP; Krahenbuhl, S; Ray, DB; Stabler, SP	1
Allen, RH; Brass, EP; Stabler, SP; Tahiliani, AG	1
Barltrop, D; Bhatt, HR; Linnell, JC	1
Allen, RH; Bartholomew, DW; Batshaw, ML; Francomano, CA; Roe, CR; Rosenblatt, D; Valle, DL	1
Dallaire, L; Geoffroy, G; Homsy, MB; Melançon, SB; Mitchell, GA; Orquin, J; Rosenblatt, DS; Watkins, D	1
Berger, GM; Christianson, A; Davidson, JS; Harley, EH; Lloyd, A	1
Alvarez, L; Briones, P; Gonzalez Pascual, E; Maya, A; Pascual, P; Ribes, A; Ros, J; Sabater, J; Vilaseca, MA	1
Dowton, SB; Fulton, AB; Levy, HL; Robb, RM	1
Shinnar, S; Singer, HS	1
Bedros, AA; Carmel, R; Goodman, SI; Mace, JW	1
Burkel, GM; Morrow, G	1
Miyatake, K; Nakano, Y; Saido, H; Toyoshima, S; Watanabe, F	1
Andersson, HC; Shapira, E	1
Gérard, M; Ogier de Baulny, H; Saudubray, JM; Zittoun, J	1
Barkovich, AJ; Enns, GM; Fredrick, DR; Ohnstad, C; Packman, S; Rosenblatt, DS; Weisiger, K	1
Augoustides-Savvopoulou, P; Mylonas, I; Rosenblatt, DS; Sewell, AC	1
Desnick, RJ; Eddleman, K; Gaddipati, S; Sansaricq, C; Snyderman, SE; Wasserstein, MP	1
Fäldt, R; Gustafson, L; Hultberg, B; Nilsson, K; Warkentin, S	1
Bagnoli, F; Bellieni, CV; Buonocore, G; Cioni, M; De Felice, C; Farnetani, M; Ferrari, F; Gatti, MG	1
Appel, SH; Beaudet, AL; Bodamer, OA; Rosenblatt, DS	1
Baumgartner, ER; Bosk, A; Fowler, B; Heinemann, MK; Sieverding, L; Tomaske, M; Trefz, FK	1
Blom, HJ; Hoefnagels, WH; Kuin, Y; Pasman, JW; Poels, PJ; van Asselt, DZ; van Lier, HJ; Vingerhoets, DM	1
Elian, KM; Hoffer, LJ	1
Boneh, A; Garra, G; Greaves, RF; Pitt, JJ	1
Bodamer, OA; Smith, DL	1
Arnout, J; Baumgartner, ER; Fowler, B; Fryns, JP; Grünewald, S; Peters, H; Van Damme, B; Van Damme-Lombaerts, R; Van Hove, JL; Wevers, R	1
Fulton, AB; Hansen, RM; Marsden, DL; Tsina, EK	1
Campbell, CD; Ficicioglu, C; Ganesh, J	1
Greenberg, CR; Prasad, AN; Prasad, C; Sharma, AP	1
Bruneteau, G; Couvreur, G; de Baulny, HO; Faivre, L; Giraudier, S; Giroud, M; Grabli, D; Horellou, MH; Masurel-Paulet, A; Moreau, T; Perennou, D; Roze, E; Sedel, F; Thauvin-Robinet, C; Tonneti, C	1
Aydin, HI; Baumgartner, MR; Bodamer, OA; Burlina, AB; Das, AM; DeKlerk, JB; Geb, S; Gökcay, G; Grünewald, S; Guffon, N; Hörster, F; Kölker, S; Lindner, M; Maier, EM; Morava, E; Müller, E; Schwahn, B; Walter, JH; Wendel, U; Wijburg, FA; Zwickler, T	1
Froese, DS; Gravel, RA; Healy, S; Zhang, J	1
DiBello, PM; Hannibal, L; Jacobsen, DW; Miller, A; Rosenblatt, DS; Wang, S; Willard, B; Yu, M	1
Costakos, D; Karth, P; Kim, J; Singh, R	1
Gao, XL; Gu, XF; Han, LS; Huang, Z; Ji, WJ; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW	1
Liu, YP; Yang, YL	1
Bjørke-Monsen, AL; Markestad, T; Torsvik, I; Ueland, PM	1
Benoist, JF; Cornec-Le Gall, E; De Parscau, L; Delmas, Y; Doucet, L; Fremeaux-Bacchi, V; Le Meur, Y; Ogier, H	1
Harrington, D; Hunt, A; Robinson, S	1
Hersberger, M; Kook, PH; Reusch, CE	1
Mazokopakis, EE	1
Hersberger, M; Kook, PH; Melliger, RH	1
Conway, R; Pappas, KB; Younan, M	1
Farach, L; Frigeni, M; Gunther, K; Kacpura, A	1
Florindo, C; Gaspar, A; Janeiro, P; Lipari Pinto, P; Mexia, S; Rocha, H; Santos, RL; Tavares de Almeida, I; Vilarinho, L	1

Reviews

3 review(s) available for methylmalonic acid and hydroxocobalamin

Article	Year
Remethylation defects: guidelines for clinical diagnosis and treatment. European journal of pediatrics, 1998, Volume: 157 Suppl 2 Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Betaine; Child, Preschool; Folic Acid; Homocysteine; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Metabolism, Inborn Errors; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Methylmalonic Acid; Oxidoreductases Acting on CH-NH Group Donors; Practice Guidelines as Topic; Vitamin B 12	1998
[Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2013, Volume: 51, Issue:4 Topics: Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Betaine; Carrier Proteins; Child; China; DNA Mutational Analysis; Gas Chromatography-Mass Spectrometry; Genotype; Homocysteine; Humans; Hydroxocobalamin; Hyperhomocysteinemia; Infant; Methylmalonic Acid; Mutation; Oxidoreductases; Vitamin B 12	2013
Vitamin B12 deficiency. BMJ (Clinical research ed.), 2014, Sep-04, Volume: 349 Topics: Homocysteine; Humans; Hydroxocobalamin; Methylmalonic Acid; Transcobalamins; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex	2014

Trials

4 trial(s) available for methylmalonic acid and hydroxocobalamin

Article	Year
Enzymologic studies on patients with methylmalonic aciduria: basis for a clinical trial of deoxyadenosylcobalamin in a hydroxocobalamin-unresponsive patient. Pediatric research, 1991, Volume: 30, Issue:6 Topics: Alkyl and Aryl Transferases; Cell Line; Cobamides; Female; Fibroblasts; Humans; Hydroxocobalamin; Infant; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Transferases	1991
Cobalamin supplementation improves cognitive and cerebral function in older, cobalamin-deficient persons. The journals of gerontology. Series A, Biological sciences and medical sciences, 2001, Volume: 56, Issue:12 Topics: Aged; Aged, 80 and over; Aging; Brain; Cognition; Electroencephalography; Female; Humans; Hydroxocobalamin; Male; Methylmalonic Acid; Single-Blind Method; Vitamin B 12 Deficiency	2001
Hydroxocobalamin reduces hyperhomocysteinemia in end-stage renal disease. Metabolism: clinical and experimental, 2002, Volume: 51, Issue:7 Topics: Aged; Female; Folic Acid; Homocysteine; Humans; Hydroxocobalamin; Hyperhomocysteinemia; Injections, Subcutaneous; Kidney Failure, Chronic; Male; Methylmalonic Acid; Middle Aged; Prospective Studies; Renal Dialysis; Treatment Outcome; Vitamin B 12	2002
Cobalamin supplementation improves motor development and regurgitations in infants: results from a randomized intervention study. The American journal of clinical nutrition, 2013, Volume: 98, Issue:5 Topics: Biomarkers; Child Development; Dietary Supplements; Double-Blind Method; Female; Folic Acid; Follow-Up Studies; Homocysteine; Humans; Hydroxocobalamin; Infant; Injections, Intramuscular; Linear Models; Male; Methylmalonic Acid; Surveys and Questionnaires; Vitamin B 12 Deficiency; Vomiting	2013

Other Studies

41 other study(ies) available for methylmalonic acid and hydroxocobalamin

Article	Year
Studies of methylmalonyl coenzyme A carbonylmutase activity in methylmalonic acidemia. I. Correlation of clinical, hepatic, and fibroblast data. Pediatric research, 1975, Volume: 9, Issue:8 Topics: Animals; Cattle; Cell Line; Cells, Cultured; Child; Child, Preschool; Cobamides; Culture Media; Female; Fibroblasts; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Isomerases; Kidney; Liver; Male; Malonates; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Oxidation-Reduction; Propionates; Succinates; Tissue Extracts; Vitamin B 12	1975
Biochemical diagnosis and outcome of 2 years treatment in a patient with combined methylmalonic aciduria and homocystinuria. European journal of pediatrics, 1992, Volume: 151, Issue:11 Topics: Amino Acids; Female; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newborn; Metabolism, Inborn Errors; Methylmalonic Acid; Vitamin B 12	1992
Increased hepatic mitochondrial capacity in rats with hydroxy-cobalamin[c-lactam]-induced methylmalonic aciduria. The Journal of clinical investigation, 1990, Volume: 86, Issue:6 Topics: Animals; Blotting, Northern; Carnitine O-Palmitoyltransferase; Citrate (si)-Synthase; DNA, Mitochondrial; Glutamate Dehydrogenase; Hydroxocobalamin; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mitochondria, Liver; Oxygen Consumption; Proteins; Rats; Rats, Inbred F344; RNA; Succinate Dehydrogenase; Vitamin B 12 Deficiency	1990
Coenzyme A metabolism in vitamin B-12-deficient rats. The Journal of nutrition, 1990, Volume: 120, Issue:3 Topics: Animals; Blood Glucose; Chromatography, High Pressure Liquid; Coenzyme A; Diet; Hydroxocobalamin; Hydroxybutyrates; Liver; Male; Methylmalonic Acid; Muscles; Rats; Rats, Inbred F344; Vitamin B 12 Deficiency	1990
Treatment of hydroxocobalamin-resistant methylmalonic acidaemia with adenosylcobalamin. Lancet (London, England), 1986, Aug-23, Volume: 2, Issue:8504 Topics: Amino Acid Metabolism, Inborn Errors; Cobamides; Drug Resistance; Female; Humans; Hydroxocobalamin; Infant; Malonates; Methylmalonic Acid	1986
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. The Journal of pediatrics, 1988, Volume: 112, Issue:1 Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child, Preschool; Female; Fibroblasts; Homocystinuria; Humans; Hydroxocobalamin; Infant; Injections, Intramuscular; Leucovorin; Male; Malonates; Methylmalonic Acid; Vitamin B 12; Vitamin B 12 Deficiency	1988
Clinical heterogeneity in cobalamin C variant of combined homocystinuria and methylmalonic aciduria. The Journal of pediatrics, 1986, Volume: 108, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Cells, Cultured; Child, Preschool; Diagnosis, Differential; Female; Fibroblasts; Homocystinuria; Humans; Hydroxocobalamin; Infant; Malonates; Methylmalonic Acid; Phenotype; Vitamin B 12	1986
Studies on cultured fibroblasts in a case of methylmalonic aciduria. South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1984, Feb-18, Volume: 65, Issue:7 Topics: Apoenzymes; Cells, Cultured; Female; Fibroblasts; Humans; Hydroxocobalamin; In Vitro Techniques; Infant; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Propionates	1984
Methylmalonic aciduria with homocystinuria. Journal of inherited metabolic disease, 1984, Volume: 7 Suppl 2 Topics: Homocystinuria; Humans; Hydroxocobalamin; Infant; Male; Malonates; Methylmalonic Acid	1984
Retinal degeneration in vitamin B12 disorder associated with methylmalonic aciduria and sulfur amino acid abnormalities. American journal of ophthalmology, 1984, Volume: 97, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids, Sulfur; Child, Preschool; Cystathionine; Growth Disorders; Homocystinuria; Humans; Hydroxocobalamin; Male; Malonates; Methionine; Methylmalonic Acid; Retinal Degeneration; Vitamin B 12	1984
Cobalamin C mutation (methylmalonic aciduria and homocystinuria) in adolescence. A treatable cause of dementia and myelopathy. The New England journal of medicine, 1984, Aug-16, Volume: 311, Issue:7 Topics: Adolescent; Child; Female; Homocystinuria; Humans; Hydroxocobalamin; Infant; Male; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Neurocognitive Disorders; Spinal Cord Diseases; Vitamin B 12	1984
Congenital methylmalonic aciduria--homocystinuria with megaloblastic anemia: observations on response to hydroxocobalamin and on the effect of homocysteine and methionine on the deoxyuridine suppression test. Blood, 1980, Volume: 55, Issue:4 Topics: Anemia, Megaloblastic; Deoxyuridine; DNA; Female; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Malonates; Methionine; Methylmalonic Acid; Myoclonus; Thymidine	1980
Long-term management of a patient with vitamin B12-responsive methylmalonic acidemia. The Journal of pediatrics, 1980, Volume: 96, Issue:3 Pt 1 Topics: Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatinine; Dietary Proteins; Follow-Up Studies; Humans; Hydroxocobalamin; Infant; Male; Malonates; Methylmalonic Acid	1980
Excretion from rats of ketone bodies and methylmalonic acid in urine resulting from dietary vitamin B12 deficiency. Bioscience, biotechnology, and biochemistry, 1995, Volume: 59, Issue:8 Topics: Animals; Chromatography, High Pressure Liquid; Hydroxocobalamin; Ketone Bodies; Male; Methylmalonic Acid; Rats; Rats, Wistar; Vitamin B 12 Deficiency; Weight Gain	1995
Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). The Journal of pediatrics, 1998, Volume: 132, Issue:1 Topics: Child; Child, Preschool; Female; Growth; Homocystine; Homocystinuria; Humans; Hydroxocobalamin; Infant; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Vitamin B 12	1998
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin. Journal of inherited metabolic disease, 1999, Volume: 22, Issue:5 Topics: Brain; Child, Preschool; Disease Progression; Female; Humans; Hydroxocobalamin; Magnetic Resonance Imaging; Metabolism, Inborn Errors; Methylmalonic Acid; Neurologic Examination; Vitamin B 12	1999
Reversible dementia in an adolescent with cblC disease: clinical heterogeneity within the same family. Journal of inherited metabolic disease, 1999, Volume: 22, Issue:6 Topics: Aging; Child; Dementia; Electroencephalography; Female; Homocystinuria; Humans; Hydroxocobalamin; Leucovorin; Magnetic Resonance Imaging; Metabolism, Inborn Errors; Methylmalonic Acid; Vitamin B 12	1999
Successful pregnancy in severe methylmalonic acidaemia. Journal of inherited metabolic disease, 1999, Volume: 22, Issue:7 Topics: Acidosis; Adult; Female; Humans; Hydroxocobalamin; Infant, Newborn; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Vitamin B 12	1999
Treatment of cobalamin deficiency in dementia, evaluated clinically and with cerebral blood flow measurements. Aging (Milan, Italy), 2000, Volume: 12, Issue:3 Topics: Aged; Aged, 80 and over; Alzheimer Disease; Cerebrovascular Circulation; Dementia, Vascular; Female; Homocysteine; Humans; Hydroxocobalamin; Injections, Intramuscular; Male; Methylmalonic Acid; Regional Blood Flow; Vitamin B 12 Deficiency	2000
EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria. Biology of the neonate, 2000, Volume: 78, Issue:4 Topics: Electroencephalography; Female; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newborn; Metabolism, Inborn Errors; Methylmalonic Acid	2000
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). Neurology, 2001, Apr-24, Volume: 56, Issue:8 Topics: Adult; Carnitine; Diet, Protein-Restricted; Hematinics; Homocystinuria; Humans; Hydroxocobalamin; Male; Methylmalonic Acid; Proto-Oncogene Proteins c-cbl; Retroviridae Proteins, Oncogenic; Vitamin B 12	2001
CblC/D defect combined with haemodynamically highly relevant VSD. Journal of inherited metabolic disease, 2001, Volume: 24, Issue:4 Topics: Female; Folic Acid; Heart Septal Defects, Ventricular; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant, Newborn; Lactic Acid; Metabolism, Inborn Errors; Methionine; Methylmalonic Acid	2001
Metabolic treatment of pregnancy and postdelivery period in a patient with cobalamin A disease. American journal of obstetrics and gynecology, 2002, Volume: 187, Issue:1 Topics: Cobamides; Female; Humans; Hydroxocobalamin; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnancy; Pregnancy Complications; Vitamin B 12	2002
Practical management of combined methylmalonicaciduria and homocystinuria. Journal of child neurology, 2002, Volume: 17, Issue:5 Topics: Adolescent; Adult; Betaine; Carnitine; Child; Child, Preschool; Female; Folic Acid; Gastrointestinal Agents; Hematinics; Homocystinuria; Humans; Hydrocephalus; Hydroxocobalamin; Injections, Intramuscular; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Microcephaly; Seizures	2002
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. American journal of medical genetics, 2002, Aug-01, Volume: 111, Issue:2 Topics: Age of Onset; Child; Child, Preschool; Female; Hematinics; Hematuria; Hemolysis; Hemolytic-Uremic Syndrome; Homocysteine; Humans; Hydroxocobalamin; Kidney; Male; Methylmalonic Acid; Microcirculation; Proteinuria; Thrombosis; Vitamin B 12 Deficiency	2002
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. Archives of ophthalmology (Chicago, Ill. : 1960), 2005, Volume: 123, Issue:8 Topics: Amino Acid Metabolism, Inborn Errors; Betaine; Cobamides; Female; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Infant; Macula Lutea; Methionine; Methylmalonic Acid; Retina; Retinal Degeneration; Vision, Ocular; Visual Acuity; Vitamin B 12 Deficiency	2005
Two newborns with nutritional vitamin B12 deficiency: challenges in newborn screening for vitamin B12 deficiency. Haematologica, 2005, Volume: 90, Issue:12 Suppl Topics: Acyl-CoA Dehydrogenase, Long-Chain; Anemia, Pernicious; Autoimmune Diseases; Biomarkers; Carnitine; Citrates; Cystathionine; False Negative Reactions; Female; Gastric Bypass; Heterozygote; Homocysteine; Humans; Hydroxocobalamin; Infant Food; Infant, Newborn; Malabsorption Syndromes; Male; Mass Spectrometry; Maternal-Fetal Exchange; Methylmalonic Acid; Neonatal Screening; Pregnancy; Pregnancy Complications; Vitamin B 12 Deficiency	2005
Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder. Pediatric nephrology (Berlin, Germany), 2007, Volume: 22, Issue:12 Topics: Acute Kidney Injury; Betaine; Brain Diseases, Metabolic, Inborn; Carnitine; Carrier Proteins; Combined Modality Therapy; DNA Mutational Analysis; Female; Genetic Predisposition to Disease; Hemolytic-Uremic Syndrome; Homocystinuria; Homozygote; Humans; Hydroxocobalamin; Infant, Newborn; Longitudinal Studies; Methylmalonic Acid; Mutation; Oxidoreductases; Proto-Oncogene Proteins c-cbl; Treatment Outcome; Vitamin B 12	2007
The adolescent and adult form of cobalamin C disease: clinical and molecular spectrum. Journal of neurology, neurosurgery, and psychiatry, 2008, Volume: 79, Issue:6 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Brain; Brain Diseases, Metabolic, Inborn; Carrier Proteins; Cerebral Ventricles; Chromosome Aberrations; DNA Mutational Analysis; Female; Follow-Up Studies; Gene Duplication; Genes, Recessive; Genetic Carrier Screening; Homocystinuria; Humans; Hydroxocobalamin; Infusions, Intravenous; Injections, Intramuscular; Magnetic Resonance Imaging; Male; Methylmalonic Acid; Mutation, Missense; Neurologic Examination; Oxidoreductases; Spinal Cord	2008
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. Journal of inherited metabolic disease, 2008, Volume: 31, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Methylmalonic Acid; Vitamin B 12	2008
Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. Molecular genetics and metabolism, 2009, Volume: 98, Issue:4 Topics: Amino Acid Substitution; Carrier Proteins; Electrophoresis, Polyacrylamide Gel; Homocystinuria; Humans; Hydroxocobalamin; Kinetics; Metabolism, Inborn Errors; Methylmalonic Acid; Mutant Proteins; Oxidoreductases; Protein Binding; Recombinant Fusion Proteins; Spectrophotometry, Ultraviolet; Vitamin B 12	2009
The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans. Molecular genetics and metabolism, 2011, Volume: 103, Issue:3 Topics: Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Cell Line; Cells, Cultured; Fibroblasts; Folic Acid; Homocysteine; Humans; Hydroxocobalamin; Intracellular Space; Metabolic Networks and Pathways; Methylmalonic Acid; Mutation; Oxidoreductases; Phenotype; Proteome; Vimentin; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex	2011
Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia. Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus, 2012, Volume: 16, Issue:4 Topics: Humans; Hydroxocobalamin; Hyperhomocysteinemia; Infant; Injections, Intramuscular; Male; Methylmalonic Acid; Mutation; Receptors, Cell Surface; Retinal Artery Occlusion; Tomography, Optical Coherence; Vision Disorders; Vitamin B 12 Deficiency; Vitamin B 6	2012
[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2013, Volume: 51, Issue:3 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child; Child, Preschool; Female; Follow-Up Studies; Homocystine; Homocystinuria; Humans; Hydroxocobalamin; Infant; Infant, Newborn; Male; Methylmalonic Acid; Neonatal Screening; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency; Young Adult	2013
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. American journal of kidney diseases : the official journal of the National Kidney Foundation, 2014, Volume: 63, Issue:1 Topics: Adult; Amino Acid Metabolism, Inborn Errors; Antibodies, Monoclonal, Humanized; Betaine; Biopsy; Carrier Proteins; Diagnosis, Differential; Drug Resistance; Homocysteine; Homocystinuria; Humans; Hydroxocobalamin; Hypertension, Malignant; Immunologic Factors; Kidney; Kidney Function Tests; Leucovorin; Lipotropic Agents; Male; Methionine; Methylmalonic Acid; Mutation; Oxidoreductases; Recurrence; Renal Dialysis; Treatment Outcome; Vitamin B 12 Deficiency; Vitamin B Complex	2014
Prospective long-term evaluation of parenteral hydroxocobalamin supplementation in juvenile beagles with selective intestinal cobalamin malabsorption (Imerslund-Gräsbeck syndrome). Journal of veterinary internal medicine, 2018, Volume: 32, Issue:3 Topics: Anemia, Megaloblastic; Animals; Creatinine; Dog Diseases; Dogs; Drug Administration Schedule; Female; Hydroxocobalamin; Injections, Intramuscular; Malabsorption Syndromes; Male; Methylmalonic Acid; Prospective Studies; Proteinuria; Vitamin B 12; Vitamin B 12 Deficiency	2018
Normal serum cobalamin levels do not exclude the diagnosis of pernicious anaemia: a case report. Family practice, 2020, 02-19, Volume: 37, Issue:1 Topics: Anemia, Pernicious; Female; Folic Acid Deficiency; Gastritis, Atrophic; Homocysteine; Humans; Hydroxocobalamin; Methylmalonic Acid; Middle Aged; Tetrahydrofolates; Vitamin B 12; Vitamin B Complex	2020
Efficacy of intramuscular hydroxocobalamin supplementation in cats with cobalamin deficiency and gastrointestinal disease. Journal of veterinary internal medicine, 2020, Volume: 34, Issue:5 Topics: Animals; Cat Diseases; Cats; Dietary Supplements; Gastrointestinal Diseases; Hydroxocobalamin; Methylmalonic Acid; Prospective Studies; Vitamin B 12; Vitamin B 12 Deficiency	2020
Transcobalamin receptor deficiency in seven asymptomatic patients ascertained through newborn screening. American journal of medical genetics. Part A, 2022, Volume: 188, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Child; Humans; Hydroxocobalamin; Infant, Newborn; Methylmalonic Acid; Neonatal Screening; Receptors, Cell Surface	2022
Clinical and biochemical outcomes in cobalamin C deficiency with use of high-dose hydroxocobalamin in the early neonatal period. American journal of medical genetics. Part A, 2022, Volume: 188, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Female; Humans; Hydroxocobalamin; Infant, Newborn; Methylmalonic Acid; Muscle Hypotonia; Vitamin B 12 Deficiency	2022
Acquired Vitamin B12 Deficiency in Newborns: Positive Impact on Newborn Health through Early Detection. Nutrients, 2022, Oct-20, Volume: 14, Issue:20 Topics: Biomarkers; Early Diagnosis; Female; Homocysteine; Humans; Hydroxocobalamin; Infant; Infant Health; Infant, Newborn; Male; Methylmalonic Acid; Pregnancy; Vitamin B 12; Vitamin B 12 Deficiency	2022