Page last updated: 2024-08-17

methionine and methylmalonic acid

methionine has been researched along with methylmalonic acid in 41 studies

Research

Studies (41)

TimeframeStudies, this research(%)All Research%
pre-19908 (19.51)18.7374
1990's8 (19.51)18.2507
2000's13 (31.71)29.6817
2010's12 (29.27)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Broquist, HP1
Drivsholm, A; Hansen, OP; Hippe, E; Linnell, JC; Quadros, E1
Batra, KK; Stokstad, EL; Watson, JE1
Blomquist, GJ; Lok, JB; Major, MA1
Blomquist, GJ; Kearney, GP1
Allen, RH; Brass, EP; Marcell, PD; Stabler, SP1
Chetty, N; Metz, J; Reavis, SC; Vieira-Makings, E1
Baumgartner, R; Bubl, R; Kühne, T1
Bartlett, K; Halliday, D; Leonard, JV; Thompson, GN; Walter, JH1
Dowton, SB; Fulton, AB; Levy, HL; Robb, RM1
Bedros, AA; Carmel, R; Goodman, SI; Mace, JW1
Guttormsen, AB; Refsum, H; Schneede, J; Ueland, PM1
Allen, RH; Lindenbaum, J; Stabler, SP2
Gérard, M; Ogier de Baulny, H; Saudubray, JM; Zittoun, J1
Graefe, U; Henning, BF; Langer, K; Raidt, H; Riezler, R; Tepel, M; Zidek, W1
Naurath, HJ; Pütter, S; Riezler, R; Ubbink, JB1
Baumgartner, ER; Bosk, A; Fowler, B; Heinemann, MK; Sieverding, L; Tomaske, M; Trefz, FK1
Allen, RH; Berthold, HK; Look, MP; Riezler, R; Rockstroh, JK; Sauerbruch, T; Schliefer, K; Stabler, SP1
Ruaux, CG; Steiner, JM; Williams, DA1
Girard, CL; Matte, JJ1
Fowler, B; Herrmann, W; Kuhlmann, MK; Makowski, J; Obeid, R; Schorr, H1
Beaudet, AL; Bodamer, OA; Bottiglieri, T; O'Brien, WE; Sahoo, T; Scaglia, F; Stöckler-Ipsiroglu, S; Wagner, C1
Fulton, AB; Hansen, RM; Marsden, DL; Tsina, EK1
Arseth, O; Kvalheim, G; Ueland, PM; Windelberg, A1
Adachi, S; Adachi, T; Ebara, S; Inui, H; Kono, N; Miura, T; Nakano, Y; Nakao, M; Yamaji, R1
Kawata, T; Maekawa, A; Mori, K; Tadokoro, T; Tamai, H; Tanaka, N; Tobimatsu, T; Toraya, T; Wada, M; Yamada, K1
Schneede, J; Ueland, PM1
Bergh, A; Hallmans, G; Hultdin, J; Johansson, M; Key, T; Midttun, O; Stattin, P; Ueland, PM; Van Guelpen, B; Vollset, SE1
Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C1
Bard, G; Barlogis, V; Giraudier, S; Hamel, C; Moat, SJ; Odent, S; Ogier de Baulny, H; Schiff, M; Shortland, G; Touati, G1
Deodato, F; Dionisi-Vici, C; Martinelli, D1
Benight, NM; Burrin, DG; Chacko, S; da Silva, VR; Gregory, JF; Marini, JC; Stabler, SP; Stoll, B1
Carrillo-Carrasco, N; Chandler, RJ; Venditti, CP1
Brosnan, JT; Brosnan, ME; Lamarre, SG; Molloy, AM; Reinke, SN; Sykes, BD1
Mansoor, MA; Reine, A; Schneede, J; Stea, TH1
Benoist, JF; Cornec-Le Gall, E; De Parscau, L; Delmas, Y; Doucet, L; Fremeaux-Bacchi, V; Le Meur, Y; Ogier, H1
Baumgartner, MR; Blom, HJ; Huemer, M; Kožich, V; Merinero, B; Pasquini, E; Ribes, A; Rinaldo, P1
Ahrens-Nicklas, RC; Blair, J; Brochi, L; Burfield, J; Cuddapah, S; Ficicioglu, C; Kaplan, P; Whitaker, AM; Yudkoff, M1
Akamine, S; Fukai, R; Hara, T; Ishizaki, Y; Kimura, M; Koga, H; Matsumoto, N; Miyake, N; Ohga, S; Ohkubo, K; Saitsu, H; Sakai, Y; Sakamoto, O; Sakata, A; Sanefuji, M; Torisu, H; Yamaguchi, S1
Barić, I; Bártl, J; Baumgartner, MR; Ben-Omran, T; Blasco-Alonso, J; Blom, HJ; Bueno Delgado, MA; Carducci, C; Cassanello, M; Cerone, R; Chrastina, P; Couce, ML; Crushell, E; Delgado Pecellin, C; Dionisi-Vici, C; Dulin, E; Espada, M; Ferino, G; Fingerhut, R; Garcia Jimenez, I; Gleich, F; Gonzalez Gallego, I; González-Irazabal, Y; Gouveia, S; Gramer, G; Huemer, M; Juan Fita, MJ; Karg, E; Keller, R; Klein, J; Kölker, S; Konstantopoulou, V; Kožich, V; la Marca, G; Leão Teles, E; Leuzzi, V; Lilliu, F; Lopez, RM; Lund, AM; Mayne, P; Meavilla, S; Moat, SJ; Morris, AA; Okun, JG; Pasquini, E; Pavlíková, M; Pedron-Giner, CC; Racz, GZ; Ribes, A; Ruiz Gomez, MA; Vilarinho, L; Yahyaoui, R; Zerjav Tansek, M; Zetterström, RH; Zeyda, M1

Reviews

8 review(s) available for methionine and methylmalonic acid

ArticleYear
Amino acid metabolism.
    Nutrition reviews, 1976, Volume: 34, Issue:10

    Topics: Amino Acid Metabolism, Inborn Errors; Amino Acids; Animals; Biological Transport, Active; Carnitine; Corynebacterium; Glutamates; Humans; Keto Acids; Lysine; Methionine; Methylmalonic Acid; Neurospora crassa; Phenylketonurias; Plants; Protein Biosynthesis; Protein O-Methyltransferase; Taurine; Vitamin B Complex

1976
Vitamin B-12 deficiency in the elderly: current dilemmas.
    The American journal of clinical nutrition, 1997, Volume: 66, Issue:4

    Topics: Acyl Coenzyme A; Aged; Aged, 80 and over; Female; Homocysteine; Humans; Male; Methionine; Methylmalonic Acid; Middle Aged; Vitamin B 12; Vitamin B 12 Deficiency

1997
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
Relevance of vitamins, homocysteine and other metabolites in neuropsychiatric disorders.
    European journal of pediatrics, 1998, Volume: 157 Suppl 2

    Topics: Central Nervous System Diseases; Citrates; Demyelinating Diseases; Folic Acid; Homocysteine; Humans; Mental Disorders; Methionine; Methylmalonic Acid; Vitamin B 12

1998
[Measurement of methylmalonic acid, homocysteine and methionine in cobalamin and folate deficiencies and homocysteinuria].
    Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke, 2008, Mar-13, Volume: 128, Issue:6

    Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Diagnosis, Differential; Folic Acid; Folic Acid Deficiency; Food, Fortified; Homocysteine; Humans; Infant; Infant, Newborn; Methionine; Methylmalonic Acid; Vitamin B 12 Deficiency

2008
Cobalamin C defect: natural history, pathophysiology, and treatment.
    Journal of inherited metabolic disease, 2011, Volume: 34, Issue:1

    Topics: Age of Onset; Homocysteine; Humans; Methionine; Methylmalonic Acid; Models, Biological; Vitamin B 12; Vitamin B 12 Deficiency

2011
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management.
    Journal of inherited metabolic disease, 2012, Volume: 35, Issue:1

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Carrier Proteins; Child; Child, Preschool; Female; Homocystinuria; Humans; Infant; Infant, Newborn; Male; Methionine; Methylmalonic Acid; Models, Biological; Models, Genetic; Mutation; Neonatal Screening; Oxidoreductases; Pregnancy; Prenatal Diagnosis; Vitamin B 12; Vitamin B 12 Deficiency

2012
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
    Journal of inherited metabolic disease, 2015, Volume: 38, Issue:6

    Topics: Acetylcarnitine; Betaine; Carnitine; Homocystinuria; Humans; Infant, Newborn; Methionine; Methylation; Methylenetetrahydrofolate Reductase (NADPH2); Methylmalonic Acid; Neonatal Screening; Practice Guidelines as Topic

2015

Trials

1 trial(s) available for methionine and methylmalonic acid

ArticleYear
Decrease of elevated N,N-dimethylglycine and N-methylglycine in human immunodeficiency virus infection during short-term highly active antiretroviral therapy.
    Metabolism: clinical and experimental, 2001, Volume: 50, Issue:11

    Topics: Adult; Aged; Aged, 80 and over; Anti-HIV Agents; Antigens, CD; Antiretroviral Therapy, Highly Active; Biomarkers; Cystathionine; Cysteine; Fasting; Female; Folic Acid; HIV Infections; HIV-1; Homocysteine; Humans; Male; Methionine; Methylmalonic Acid; Middle Aged; Multivariate Analysis; Receptors, Tumor Necrosis Factor; Receptors, Tumor Necrosis Factor, Type II; Sarcosine; Vitamin B 6

2001

Other Studies

32 other study(ies) available for methionine and methylmalonic acid

ArticleYear
Interrelationships between Vitamin B12 and folic acid in myelomatosis: cobalamin coenzyme and tetrahydrofolic acid function.
    Scandinavian journal of haematology, 1978, Volume: 20, Issue:4

    Topics: Adolescent; Adult; Age Factors; Aged; Cobamides; Edetic Acid; Erythrocytes; Female; FIGLU Test; Histidine; Humans; Male; Methionine; Methylmalonic Acid; Middle Aged; Multiple Myeloma; Tetrahydrofolates; Vitamin B 12

1978
Effect of dietary thyroid powder on urinary excretion of formiminoglutamic acid and methylmalonic acid.
    Proceedings of the Society for Experimental Biology and Medicine. Society for Experimental Biology and Medicine (New York, N.Y.), 1979, Volume: 161, Issue:4

    Topics: Animals; Dietary Proteins; Folic Acid; Formiminoglutamic Acid; Glutarates; Histidine; Male; Malonates; Methionine; Methylmalonic Acid; Rats; Thyroid (USP); Thyroid Hormones; Vitamin B 12; Vitamin B 12 Deficiency

1979
Biosynthesis of 3-methylpentacosane in the cockroach Periplaneta americana.
    Biochemical and biophysical research communications, 1975, May-05, Volume: 64, Issue:1

    Topics: Acetates; Alkanes; Animals; Carbon Radioisotopes; Chromatography, Gas; Cockroaches; Isoleucine; Lactones; Methionine; Methylmalonic Acid; Mevalonic Acid; Propionates; Tritium; Valine

1975
Biosynthesis of internally branched monomethylalkanes in the cockroach Periplaneta fuliginosa.
    Archives of biochemistry and biophysics, 1976, Volume: 173, Issue:2

    Topics: Acetates; Alkanes; Animals; Chromatography, Gas; Cockroaches; Glucose; Isoleucine; Methionine; Methylmalonic Acid; Propionates; Skin; Valine

1976
Inhibition of cobalamin-dependent enzymes by cobalamin analogues in rats.
    The Journal of clinical investigation, 1991, Volume: 87, Issue:4

    Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Animals; Folic Acid; Homocysteine; Male; Methionine; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Nitrous Oxide; Rats; Rats, Inbred Strains; Structure-Activity Relationship; Succinates; Succinic Acid; Vitamin B 12

1991
Methylmalonic acid metabolism and nervous-system fatty acids in cobalamin-deficient fruit bats receiving supplements of methionine, valine and isoleucine.
    The Biochemical journal, 1991, May-01, Volume: 275 ( Pt 3)

    Topics: Amino Acids; Animals; Brain; Chiroptera; Fatty Acids; Isoleucine; Liver; Methionine; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Nervous System; Nervous System Diseases; Spinal Cord; Valine; Vitamin B 12 Deficiency

1991
Maternal vegan diet causing a serious infantile neurological disorder due to vitamin B12 deficiency.
    European journal of pediatrics, 1991, Volume: 150, Issue:3

    Topics: Adult; Breast Feeding; Diet, Vegetarian; Female; Homocysteine; Humans; Infant; Methionine; Methylmalonic Acid; Milk, Human; Nervous System Diseases; Vitamin B 12; Vitamin B 12 Deficiency

1991
Contribution of aminoacid catabolism to propionate production in methylmalonic acidaemia.
    Lancet (London, England), 1989, Jun-10, Volume: 1, Issue:8650

    Topics: Acyl Coenzyme A; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids; Child; Humans; Isoleucine; Kinetics; Leucine; Malonates; Methionine; Methylmalonic Acid; Phenylalanine; Threonine; Time Factors; Valine

1989
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
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
Kinetics of total plasma homocysteine in subjects with hyperhomocysteinemia due to folate or cobalamin deficiency.
    The American journal of clinical nutrition, 1996, Volume: 63, Issue:2

    Topics: Adolescent; Adult; Aged; Female; Folic Acid; Folic Acid Deficiency; Half-Life; Hematinics; Homocysteine; Humans; Kinetics; Male; Methionine; Methylmalonic Acid; Middle Aged; Vitamin B 12; Vitamin B 12 Deficiency

1996
Evidence of altered homocysteine metabolism in chronic renal failure.
    Nephron, 1999, Volume: 83, Issue:4

    Topics: Arteriosclerosis; Citrates; Creatinine; Cystathionine; Cysteine; Female; Homocysteine; Humans; Kidney Failure, Chronic; Male; Methionine; Methylmalonic Acid; Middle Aged; Renal Dialysis; Risk Factors; Vitamins

1999
Does a single vitamin B-supplementation induce functional vitamin B-deficiency?
    Clinical chemistry and laboratory medicine, 2001, Volume: 39, Issue:8

    Topics: Adult; Cystathionine; Cysteine; Dietary Supplements; Folic Acid; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Male; Methionine; Methylmalonic Acid; Middle Aged; Models, Biological; Pilot Projects; Time Factors; Vitamin B 12; Vitamin B 6; Vitamin B Complex; Vitamin B Deficiency

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
Metabolism of amino acids in cats with severe cobalamin deficiency.
    American journal of veterinary research, 2001, Volume: 62, Issue:12

    Topics: Amino Acids; Animals; Cat Diseases; Cats; Cystathionine; Cysteine; Female; Gastrointestinal Diseases; Homocysteine; Immunoassay; Male; Methionine; Methylmalonic Acid; Statistics, Nonparametric; Vitamin B 12; Vitamin B 12 Deficiency

2001
Effects of intramuscular injections of vitamin B12 on lactation performance of dairy cows fed dietary supplements of folic acid and rumen-protected methionine.
    Journal of dairy science, 2005, Volume: 88, Issue:2

    Topics: Animals; Cattle; Cysteine; Diet; Dietary Supplements; Eating; Female; Folic Acid; Homocysteine; Injections, Intramuscular; Lactation; Methionine; Methylmalonic Acid; Milk; Parity; Rumen; Vitamin B 12

2005
Disturbed homocysteine and methionine cycle intermediates S-adenosylhomocysteine and S-adenosylmethionine are related to degree of renal insufficiency in type 2 diabetes.
    Clinical chemistry, 2005, Volume: 51, Issue:5

    Topics: Aged; Cystathionine; Cysteine; Diabetes Mellitus, Type 2; Diabetic Nephropathies; Female; Folic Acid; Homocysteine; Humans; Kidney; Kidney Failure, Chronic; Male; Methionine; Methylmalonic Acid; Middle Aged; S-Adenosylhomocysteine; S-Adenosylmethionine; Transcobalamins; Vitamin B 12; Vitamin B 6

2005
Creatine metabolism in combined methylmalonic aciduria and homocystinuria.
    Annals of neurology, 2005, Volume: 57, Issue:4

    Topics: Adult; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Creatine; Female; Glycine; Homocysteine; Homocystinuria; Humans; Male; Methionine; Methylmalonic Acid; Vitamin B 12

2005
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
Automated assay for the determination of methylmalonic acid, total homocysteine, and related amino acids in human serum or plasma by means of methylchloroformate derivatization and gas chromatography-mass spectrometry.
    Clinical chemistry, 2005, Volume: 51, Issue:11

    Topics: Amino Acids; Autoanalysis; Formates; Gas Chromatography-Mass Spectrometry; Glycine; Homocysteine; Humans; Indicators and Reagents; Methionine; Methylmalonic Acid; Plasma; Reference Values; Sensitivity and Specificity; Serine; Serum

2005
Abnormal increase in the expression level of proliferating cell nuclear antigen (PCNA) in the liver and hepatic injury in rats with dietary cobalamin deficiency.
    Journal of nutritional science and vitaminology, 2006, Volume: 52, Issue:3

    Topics: Alanine Transaminase; Animals; Biomarkers; Body Weight; Carnitine; Cell Proliferation; Growth Disorders; Liver; Liver Diseases; Male; Methionine; Methylmalonic Acid; Organ Size; Proliferating Cell Nuclear Antigen; Rats; Rats, Wistar; Vitamin B 12 Deficiency; Vitamin B Complex

2006
Testicular injury to rats fed on soybean protein-based vitamin B12-deficient diet can be reduced by methionine supplementation.
    Journal of nutritional science and vitaminology, 2007, Volume: 53, Issue:2

    Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Analysis of Variance; Animals; Body Weight; Diet; Dietary Supplements; Disease Models, Animal; Female; Male; Methionine; Methylmalonic Acid; Organ Size; Rats; Rats, Wistar; Soybean Proteins; Testicular Diseases; Testis; Vitamin B 12 Deficiency

2007
One-carbon metabolism and prostate cancer risk: prospective investigation of seven circulating B vitamins and metabolites.
    Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 2009, Volume: 18, Issue:5

    Topics: Adult; Betaine; Case-Control Studies; Chi-Square Distribution; Choline; Cysteine; Humans; Male; Methionine; Methylmalonic Acid; Middle Aged; One-Carbon Group Transferases; Prospective Studies; Prostatic Neoplasms; Registries; Riboflavin; Statistics, Nonparametric; Sweden; Vitamin B 6

2009
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
    Molecular genetics and metabolism, 2010, Volume: 99, Issue:2

    Topics: Algorithms; Carnitine; Demography; False Positive Reactions; Female; Follow-Up Studies; Genetic Association Studies; Homocystinuria; Humans; Infant, Newborn; Male; Metabolism, Inborn Errors; Methionine; Methylmalonic Acid; Neonatal Screening; New York; Propionates; Referral and Consultation; Vitamin B 12

2010
Should transcobalamin deficiency be treated aggressively?
    Journal of inherited metabolic disease, 2010, Volume: 33, Issue:3

    Topics: Anemia, Megaloblastic; Biological Transport; DNA Mutational Analysis; DNA Primers; Female; Homocysteine; Humans; Infant; Infant, Newborn; Methionine; Methylmalonic Acid; Mutation; Polymerase Chain Reaction; Protein Structure, Tertiary; Transcobalamins

2010
B-vitamin deficiency is protective against DSS-induced colitis in mice.
    American journal of physiology. Gastrointestinal and liver physiology, 2011, Volume: 301, Issue:2

    Topics: Analysis of Variance; Animals; Body Weight; Colitis; Dextran Sulfate; Gene Expression; Glutathione; Homocysteine; Inflammation; Interleukin-10; Kaplan-Meier Estimate; Male; Metabolomics; Methionine; Methylmalonic Acid; Mice; Mice, Inbred C57BL; Nitric Oxide Synthase Type II; Peroxidase; Pyridoxal Phosphate; S-Adenosylhomocysteine; Severity of Illness Index; Tumor Necrosis Factor-alpha; Vitamin B 12 Deficiency; Vitamin B 6 Deficiency

2011
Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration.
    American journal of physiology. Endocrinology and metabolism, 2012, Jan-01, Volume: 302, Issue:1

    Topics: Animals; Biomarkers; Brain; Folic Acid Deficiency; Formates; Homocysteine; Hyperhomocysteinemia; Liver; Magnetic Resonance Spectroscopy; Male; Metabolomics; Methionine; Methylation; Methylmalonic Acid; Models, Biological; Random Allocation; Rats; Rats, Sprague-Dawley; Vitamin B 12 Deficiency; Vitamin B 6 Deficiency

2012
Early biochemical and hematological response to intramuscular cyanocobalamin therapy in vitamin B(12)-deficient patients.
    Annals of nutrition & metabolism, 2013, Volume: 62, Issue:4

    Topics: Aged; Chromatography, High Pressure Liquid; Cysteine; Erythrocyte Indices; Female; Folic Acid; Homocysteine; Humans; Injections, Intramuscular; Male; Methionine; Methylmalonic Acid; Middle Aged; Statistics, Nonparametric; Vitamin B 12; Vitamin B 12 Deficiency

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
Efficacy of early treatment in patients with cobalamin C disease identified by newborn screening: a 16-year experience.
    Genetics in medicine : official journal of the American College of Medical Genetics, 2017, Volume: 19, Issue:8

    Topics: Cohort Studies; Dietary Proteins; Female; Homocysteine; Humans; Infant; Infant, Newborn; Longitudinal Studies; Male; Methionine; Methylmalonic Acid; Neonatal Screening; Neurocognitive Disorders; Retrospective Studies; Secondary Prevention; Vitamin B 12 Deficiency

2017
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia.
    European journal of medical genetics, 2018, Volume: 61, Issue:8

    Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Brain Diseases; Humans; Male; Methionine; Methylmalonic Acid; Propionates; Protein Serine-Threonine Kinases; Syndrome

2018
Newborn screening for homocystinurias: Recent recommendations versus current practice.
    Journal of inherited metabolic disease, 2019, Volume: 42, Issue:1

    Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Glycine N-Methyltransferase; Homocysteine; Homocystinuria; Humans; Infant, Newborn; Male; Methionine; Methylenetetrahydrofolate Reductase (NADPH2); Methylmalonic Acid; Muscle Spasticity; Neonatal Screening; Phenylalanine; Psychotic Disorders

2019