methylmalonic acid and carnitine

methylmalonic acid has been researched along with carnitine in 80 studies

Research

Studies (80)

Timeframe	Studies, this research(%)	All Research%
pre-1990	15 (18.75)	18.7374
1990's	11 (13.75)	18.2507
2000's	23 (28.75)	29.6817
2010's	23 (28.75)	24.3611
2020's	8 (10.00)	2.80

Authors

Authors	Studies
Broquist, HP	1
Chalmers, RA; Davies, SE; Iles, RA; Stacey, TE	1
Chalmers, RA; Davies, SE; de Sousa, C; Iles, RA; Stacey, TE	1
Ajami, A; Barshop, BA; Nyhan, WL; Prodanos, C; Smith, M; Sweetman, FR; Sweetman, L; Wolff, JA; Yoshida, I	1
Kidouchi, K; Kobayashi, M; Sugiyama, N; Wada, Y	1
Chalmers, RA	1
Fujisawa, S; Hironaka, Y; Shimatani, K; Yamada, H	1
Carroll, JE; Haas, R; Nyhan, WL; Prodanos, C; Wolff, JA	1
Otten, A; Penn, D; Schmidt, H; Schmidt-Sommerfeld, E	1
Bieber, LL; Jakobs, C; Penn, D; Schmidt-Sommerfeld, E	1
Jeffrey, FM; Malloy, CR; Rajagopal, A; Roby, RE; Sherry, AD	1
Brass, EP; Stabler, SP	1
Allen, RH; Bartholomew, DW; Batshaw, ML; Francomano, CA; Roe, CR; Rosenblatt, D; Valle, DL	1
Parsons, HG; Seccombe, DW; Snyder, F	1
Chalmers, RA; de Sousa, C; Hoppel, CL; Millington, DS; Roe, CR; Stacey, TE; Tracey, BM	1
Chalmers, RA; Hoppel, CL; Roe, CR; Stacey, TE	1
Chalmers, RA; Hoppel, CL; Millington, DS; Roe, CR; Stacey, TE; Tracey, BM	1
Di Donato, S; Garavaglia, B; Rimoldi, M; Uziel, G	1
Hoppel, CL; Minkler, PE	2
Bennett, MJ; Berry, GT; Hale, DE; Stanley, CA; Treem, WR; Willi, SM	1
Burns, SP; Chalmers, RA; Iles, RA; Saudubray, JM	1
Clayton, PT; Johnson, AW; Mills, K	1
Calabrese, V; Rizza, V	1
de Hoffmann, E; Libert, R; Nassogne, MC; Schanck, A; Thillaye, M; Van Hoof, F; Vincent, MF	1
Appel, SH; Beaudet, AL; Bodamer, OA; Rosenblatt, DS	1
Birek, L; Chandler, MJ; Field, C; Phalin-Roque, J; Walker, T; Winter, S; Zorn, E	1
Chace, DH; DiPerna, JC; Johnson, RW; Kalas, TA; Naylor, EW	1
Kushnir, MM; Pasquali, M; Roberts, WL; Shushan, B	1
Baiocco, F; Boenzi, S; Deodato, F; Dionisi-Vici, C; Rizzo, C; Sabetta, G	1
Bodamer, OA; Smith, DL	1
Walter, JH	1
Fowler, KJ; Gazeas, S; Ioannou, PA; Kahler, SG; Nefedov, M; Peters, H; Pitt, J; Sarsero, J	1
Krähenbühl, S; Vernez, L; Wenk, M	1
Butterfield, DA; Calabrese, V; Calvani, M	1
Hasegawa, Y; Iga, M; Kimura, M; Shigematsu, Y; Yamaguchi, S	1
Baumgartner, C; Baumgartner, D	1
Campbell, CD; Ficicioglu, C; Ganesh, J	1
Adachi, S; Adachi, T; Ebara, S; Inui, H; Kono, N; Miura, T; Nakano, Y; Nakao, M; Yamaji, R	1
Ito, T; Kurono, Y; Maeda, Y; Sugiyama, N; Sumi, S; Suzuki, A; Togari, H; Ueta, A; Yokoi, K	1
Endo, M; Hasegawa, Y; Kobayashi, H; Purevsuren, J; Yamaguchi, S	1
Bertini, E; Carrozzo, R; Deodato, F; Di Giandomenico, S; Dionisi-Vici, C; Franke, B; Kluijtmans, LA; Lucioli, S; Meschini, MC; Morava, E; Piemonte, F; Rizzo, C; Rodenburg, R; Santer, R; Santorelli, FM; Steuerwald, U; van Rooij, A; Vermunt-de Koning, D; Wevers, RA	1
Donati, MA; Innocenti, M; la Marca, G; Malvagia, S; Pasquini, E; Zammarchi, E	1
Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ	1
Greenberg, CR; Prasad, AN; Prasad, C; Sharma, AP	1
Barshop, BA; Gangoiti, JA; Siuzdak, G; Wikoff, WR	1
Dong, JH; Jiang, YW; Liu, P; Qin, J; Song, JQ; Wang, LF; Wu, XR; Yan, R; Yang, YL; Zhang, Y; Zhang, YH	1
Dong, JH; Hasegawa, Y; Liu, P; Qin, J; Sayami, S; Shi, CY; Song, JQ; Yamaguchi, S; Yan, R; Yang, YL; Zhang, Y	1
Chen, PW; Chien, YH; Ho, MC; Hwu, WL; Lee, NC; Lee, PH; Ni, YH	1
Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C	1
Arnoux, JB; Barth, M; Boddaert, N; Bonnefont, JP; Cormier-Daire, V; de Lonlay, P; Haudry, C; Lebre, AS; Munnich, A; Rabier, D; Rio, M; Rötig, A; Serre, V; Valayannopoulos, V; Vassault, A	1
Hata, I; Shigematsu, Y; Tajima, G	1
Burch, M; Cleary, MA; Dixon, M; Footitt, EJ; Jakobs, C; Salomons, GS; Stafford, J	1
Chen, YJ; Cheng, KH; Chiang, CC; Ho, HJ; Hsiao, KJ; Huang, CH; Hung, PY; Hwu, WL; Kao, CH; Lee, NC; Lin, HY; Lin, JL; Lin, SP; Liu, MY; Liu, TT; Niu, DM	1
Biancini, GB; de Marco, MG; Manfredini, V; Ribas, GS; Vanzin, CS; Vargas, CR; Vieira, RB; Wajner, M; Wayhs, CY	1
Gao, X; Gu, X; Han, L; Qiu, W; Wang, F; Wang, Y; Yang, Y; Ye, J; Zhang, H; Zhang, Y	1
Biancini, GB; Mescka, C; Ribas, GS; Sitta, A; Vargas, CR; Wajner, M; Wayhs, CY	1
Grenier, MA; Huth, CM; Jefferies, JL; Leslie, ND; Page, KI; Prada, CE; Spicer, RL; Towbin, JA	1
Ding, Y; Huang, Y; Li, XY; Liu, YP; Ma, YY; Song, JQ; Wang, Q; Wu, TF; Yang, YL	1
Arisaka, O; Imataka, G; Omura-Hasegawa, Y; Sakamoto, O; Tajima, G; Yamanouchi, H; Yoshihara, S	1
Gao, XL; Gu, XF; Han, LS; Li, XY; Qiu, WJ; Wang, Y; Wu, SN; Xu, H; Ye, J; Zhang, HW	1
Gao, XL; Gu, XF; Han, LS; Huang, Z; Ji, WJ; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW	1
Albano, L; Caterino, M; di Girolamo, MG; Di Stefano, C; Franzese, I; Gallo, G; Ingenito, L; Pecce, R; Ruoppolo, M; Scolamiero, E; Villani, GR	1
Ding, C; Fang, F; Liu, Z; Lyu, J; Wu, H; Wu, Y	1
Ding, Y; Li, X; Liu, Y; Song, J; Wang, H; Wang, Q; Wu, T; Yang, Y; Zhang, Y	1
Baumgartner, MR; Blom, HJ; Huemer, M; Kožich, V; Merinero, B; Pasquini, E; Ribes, A; Rinaldo, P	1
Gao, X; Gong, Z; Gu, X; Han, L; Jin, J; Qiu, W; Wang, Y; Wu, S; Ye, J; Zhang, H	1
Ding, Y; Li, DX; Li, XY; Liu, YP; Qin, YP; Song, JQ; Wang, Q; Yang, YL; Zhang, Y	1
Al-Dirbashi, OY; Chakraborty, P; McIntosh, N	1
Baumgartner, MR; Burda, P; Devuyst, O; Fingerhut, R; Forny, P; Froese, DS; Heeren, J; Hornemann, T; Kölker, S; Langhans, CD; Mathis, D; Mustedanagic, M; Nägele, N; Peters, HL; Scheja, L; Schumann, A; Thony, B; Wulf, MA; Zhakupova, A	1
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, M	1
Cowan, TM; Le, A; Mak, J	1
Hu, L; Hu, Z; Huang, X; Lin, Y; Wang, J; Yang, J; Zhang, C; Zhang, Y	1
Blessing, H; Lotz-Havla, AS; Maier, EM; Röschinger, W; Schiergens, KA; Weiss, KJ	1
Chen, LQ; Chen, RY; Chen, XQ; Li, XZ; Lin, Q; Shen, YY; Wu, HY; Xu, QY; Zhu, XM; Zhu, Y	1
Arnon, R; Bucuvalas, J; Florman, S; Oishi, K; Siegel, C	1
Abily-Donval, L; Bekri, S; Goldenberg, A; Marret, S; Salomons, GS; Snanoudj, S; Sudrié-Arnaud, B; Tebani, A; Torre, S	1
Ma, C; Meng, J; Ren, W; Wang, C; Wang, J; Wang, T; Yang, X; Yao, X; Yuan, X; Zeng, Y	1
Chen, T; Ding, S; Gu, X; Han, L; Liang, L; Ling, S; Qiu, W; Xu, F; Zhan, X; Zhang, H	1

Reviews

5 review(s) available for methylmalonic acid and carnitine

Article	Year
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
Current research in the organic acidurias. Journal of inherited metabolic disease, 1989, Volume: 12, Issue:2 Topics: Amino Acids; Carnitine; Fatty Acid Desaturases; Fatty Acids; Humans; Magnetic Resonance Spectroscopy; Malonates; Methylmalonic Acid	1989
Carnitine therapy in disorders of propionate metabolism. Nutrition reviews, 1986, Volume: 44, Issue:7 Topics: Carnitine; Child; Humans; Ketone Bodies; Lipid Metabolism, Inborn Errors; Methylmalonic Acid; Propionates	1986
[SUCLA2-related encephalomyopathic mitochondrial DNA depletion syndrome: a case report and review of literature]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2014, Volume: 52, Issue:11 Topics: Carnitine; Child; DNA, Mitochondrial; Dystonia; Europe; Female; Homozygote; Humans; Magnetic Resonance Imaging; Male; Methylmalonic Acid; Mitochondrial Encephalomyopathies; Mutation; Succinate-CoA Ligases; Syndrome	2014
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

4 trial(s) available for methylmalonic acid and carnitine

Article	Year
Carnitine reduces fasting ketogenesis in patients with disorders of propionate metabolism. Lancet (London, England), 1986, Feb-08, Volume: 1, Issue:8476 Topics: Carnitine; Child; Child, Preschool; Depression, Chemical; Fasting; Female; Humans; Infant; Ketone Bodies; Ketones; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Propionates; Time Factors	1986
Propionylcarnitine excretion is not affected by metronidazole administration to patients with disorders of propionate metabolism. European journal of pediatrics, 1996, Volume: 155, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Antitrichomonal Agents; Carnitine; Child, Preschool; Humans; Infant; Magnetic Resonance Spectroscopy; Methylmalonic Acid; Metronidazole; Propionates	1996
[Clinical studies on fifty-seven Chinese patients with combined methylmalonic aciduria and homocysteinemia]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2007, Volume: 45, Issue:7 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Anemia; Carnitine; Child; Child, Preschool; China; Female; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Male; Metabolic Diseases; Methylmalonic Acid; Urologic Diseases; Vitamin B 12; Vitamin B Complex; Young Adult	2007
Oxidative stress parameters in urine from patients with disorders of propionate metabolism: a beneficial effect of L:-carnitine supplementation. Cellular and molecular neurobiology, 2012, Volume: 32, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Antioxidants; Carnitine; Child; Child, Preschool; Diet, Protein-Restricted; Dietary Supplements; Humans; Infant; Infant, Newborn; Matched-Pair Analysis; Methylmalonic Acid; Oxidative Stress; Propionates; Treatment Outcome; Tyrosine	2012

Other Studies

71 other study(ies) available for methylmalonic acid and carnitine

Article	Year
Creatine metabolism during metabolic perturbations in patients with organic acidurias. Clinica chimica acta; international journal of clinical chemistry, 1990, Dec-24, Volume: 194, Issue:2-3 Topics: 3-Hydroxybutyric Acid; Carnitine; Child; Child, Preschool; Creatine; Creatinine; Female; Humans; Hydroxybutyrates; Infant; Lactates; Lactic Acid; Magnetic Resonance Spectroscopy; Male; Meglutol; Metabolism, Inborn Errors; Methylmalonic Acid; Vitamin B 12	1990
Carnitine therapy and metabolism in the disorders of propionyl-CoA metabolism studied using 1H-NMR spectroscopy. Clinica chimica acta; international journal of clinical chemistry, 1991, Dec-31, Volume: 204, Issue:1-3 Topics: Acyl Coenzyme A; Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Kinetics; Magnetic Resonance Spectroscopy; Male; Methylmalonic Acid; Propionates	1991
Metabolism of 1-13C-propionate in vivo in patients with disorders of propionate metabolism. Pediatric research, 1991, Volume: 30, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Biotin; Carbon Dioxide; Carboxy-Lyases; Carnitine; Child; Child, Preschool; Female; Half-Life; Humans; Infant; Male; Methylmalonic Acid; Methylmalonyl-CoA Decarboxylase; Propionates; Transcobalamins; Vitamin B 12	1991
Carnitine deficiency in inherited organic acid disorders and Reye syndrome. Acta paediatrica Japonica : Overseas edition, 1990, Volume: 32, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Humans; Infant; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Mitochondria; Propionates; Reye Syndrome	1990
[Studies on the beneficial effect of levocarnitine chloride (LC-80) on organic acidemias, especially propionic acidemia and methylmalonic acidemia]. Nihon yakurigaku zasshi. Folia pharmacologica Japonica, 1989, Volume: 93, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Animals; Carnitine; Drug Evaluation, Preclinical; Isomerism; Malonates; Methylmalonic Acid; Mitochondria, Liver; Oxygen Consumption; Propionates; Rats; Rats, Inbred Strains; Structure-Activity Relationship	1989
[Carnitine in the treatment of methylmalonic aciduria (MMA)]. Monatsschrift Kinderheilkunde : Organ der Deutschen Gesellschaft fur Kinderheilkunde, 1986, Volume: 134, Issue:10 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Female; Humans; Infant; Male; Malonates; Methylmalonic Acid; Methylmalonyl-CoA Mutase	1986
Amniotic fluid propionylcarnitine in methylmalonic aciduria. Journal of inherited metabolic disease, 1987, Volume: 10, Issue:4 Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Amniotic Fluid; Carnitine; Chromatography, High Pressure Liquid; Female; Humans; Malonates; Methylmalonic Acid	1987
Propionate metabolism in the rat heart by 13C n.m.r. spectroscopy. The Biochemical journal, 1988, Sep-01, Volume: 254, Issue:2 Topics: Animals; Carbon Isotopes; Carnitine; In Vitro Techniques; Magnetic Resonance Spectroscopy; Methylmalonic Acid; Myocardium; Perfusion; Propionates; Pyruvates; Pyruvic Acid; Rats	1988
Carnitine metabolism in the vitamin B-12-deficient rat. The Biochemical journal, 1988, Oct-01, Volume: 255, Issue:1 Topics: Acetylcarnitine; Animals; Body Weight; Carnitine; Fasting; Male; Methylmalonic Acid; Rats; Vitamin B 12 Deficiency	1988
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
L-carnitine for methylmalonicaciduria. Lancet (London, England), 1982, Dec-18, Volume: 2, Issue:8312 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Humans; Male; Malonates; Methylmalonic Acid	1982
L-Carnitine insufficiency in disorders of organic acid metabolism: response to L-carnitine by patients with methylmalonic aciduria and 3-hydroxy-3-methylglutaric aciduria. Journal of inherited metabolic disease, 1984, Volume: 7 Suppl 2 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Glutarates; Humans; Malonates; Meglutol; Methylmalonic Acid	1984
Urinary excretion of l-carnitine and acylcarnitines by patients with disorders of organic acid metabolism: evidence for secondary insufficiency of l-carnitine. Pediatric research, 1984, Volume: 18, Issue:12 Topics: Acyl-CoA Dehydrogenases; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Amino Acids, Branched-Chain; Carnitine; Child; Child, Preschool; Female; Hemiterpenes; Humans; Infant; Infant, Newborn; Lysine; Male; Methylmalonic Acid; Middle Aged; Pentanoic Acids; Propionates	1984
Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups. Archives of disease in childhood, 1983, Volume: 58, Issue:11 Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Humans; Infant; Malonates; Methylmalonic Acid	1983
Propionylcarnitine excretion in propionic and methylmalonic acidurias: a cause of carnitine deficiency. Clinica chimica acta; international journal of clinical chemistry, 1984, May-16, Volume: 139, Issue:1 Topics: Carnitine; Child, Preschool; Humans; Infant; Infant, Newborn; Malonates; Metabolism, Inborn Errors; Methylmalonic Acid; Muscles; Propionates	1984
Quantification of free carnitine, individual short- and medium-chain acylcarnitines, and total carnitine in plasma by high-performance liquid chromatography. Analytical biochemistry, 1993, Aug-01, Volume: 212, Issue:2 Topics: Acetylcarnitine; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Acylation; Carnitine; Chromatography, High Pressure Liquid; Humans; Methylmalonic Acid; Molecular Weight; Propionates; Reference Standards; Reproducibility of Results	1993
Renal handling of carnitine in secondary carnitine deficiency disorders. Pediatric research, 1993, Volume: 34, Issue:1 Topics: Acyl Coenzyme A; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenase, Long-Chain; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Female; Hemiterpenes; Humans; Infant; Kidney; Male; Methylmalonic Acid; Mitochondria; Oxidation-Reduction; Pentanoic Acids	1993
Quantification of carnitine and specific acylcarnitines by high-performance liquid chromatography: application to normal human urine and urine from patients with methylmalonic aciduria, isovaleric acidemia or medium-chain acyl-CoA dehydrogenase deficiency Journal of chromatography, 1993, Apr-02, Volume: 613, Issue:2 Topics: Acetophenones; Acyl-CoA Dehydrogenase; Acyl-CoA Dehydrogenases; Amino Acid Metabolism, Inborn Errors; Carnitine; Child, Preschool; Chromatography, High Pressure Liquid; Female; Hemiterpenes; Humans; Indicators and Reagents; Infant; Methylmalonic Acid; Pentanoic Acids	1993
The use of automated electrospray ionization tandem MS for the diagnosis of inborn errors of metabolism from dried blood spots. Biochemical Society transactions, 1996, Volume: 24, Issue:3 Topics: Biliary Atresia; Carnitine; Child; Fatty Acid Desaturases; Humans; Infant, Newborn; Maple Syrup Urine Disease; Mass Spectrometry; Metabolism, Inborn Errors; Methylmalonic Acid; Zellweger Syndrome	1996
Formation of propionate after short-term ethanol treatment and its interaction with the carnitine pool in rat. Alcohol (Fayetteville, N.Y.), 1999, Volume: 19, Issue:2 Topics: Acids, Acyclic; Adrenergic beta-Antagonists; Animals; Carnitine; Central Nervous System Depressants; Enzyme Inhibitors; Ethanol; Male; Methylmalonic Acid; Propionates; Propranolol; Pyrazoles; Rats	1999
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias. Clinica chimica acta; international journal of clinical chemistry, 2000, Volume: 295, Issue:1-2 Topics: Adult; Carboxy-Lyases; Carnitine; Case-Control Studies; Gas Chromatography-Mass Spectrometry; Humans; Infant; Lipid Metabolism, Inborn Errors; Male; Methylmalonic Acid; Methylmalonyl-CoA Decarboxylase; Propionates; Spectrometry, Mass, Fast Atom Bombardment	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
Therapy of metabolic disorders with intravenous (IV) access ports and long term intravenous L-carnitine therapy. The Southeast Asian journal of tropical medicine and public health, 1999, Volume: 30 Suppl 2 Topics: Carnitine; Catheters, Indwelling; Female; Humans; Infusions, Intravenous; Metabolism, Inborn Errors; Methylmalonic Acid; Propionates	1999
Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns. Clinical chemistry, 2001, Volume: 47, Issue:11 Topics: Amino Acid Metabolism, Inborn Errors; Blood Specimen Collection; Carnitine; False Positive Reactions; Humans; Infant, Newborn; Methylmalonic Acid; Paper; Propionates; Spectrometry, Mass, Electrospray Ionization	2001
Serum acylcarnitines and vitamin B12 deficiency. Clinical chemistry, 2002, Volume: 48, Issue:7 Topics: Aged; Carnitine; Chromatography, High Pressure Liquid; Female; Humans; Male; Mass Spectrometry; Methylmalonic Acid; Middle Aged; Vitamin B 12 Deficiency	2002
Successful pregnancy in a woman with mut- methylmalonic acidaemia. Journal of inherited metabolic disease, 2002, Volume: 25, Issue:2 Topics: Adult; Carnitine; Female; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnancy; Pregnancy Complications; Pregnancy Outcome; 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
L-carnitine in inborn errors of metabolism: what is the evidence? Journal of inherited metabolic disease, 2003, Volume: 26, Issue:2-3 Topics: Acyl-CoA Dehydrogenase; Carnitine; Humans; Metabolism, Inborn Errors; Methylmalonic Acid; Propionates	2003
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality. The Journal of biological chemistry, 2003, Dec-26, Volume: 278, Issue:52 Topics: Alkyl and Aryl Transferases; Amino Acid Metabolism, Inborn Errors; Animals; Blotting, Southern; Carnitine; Cell Line; Citrates; DNA; Fibroblasts; Genotype; Homozygote; Liver; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mice; Mice, Knockout; Mice, Transgenic; Models, Genetic; Phenotype; Plasmids; Protein Structure, Tertiary; RNA, Messenger; Time Factors	2003
Determination of carnitine and acylcarnitines in plasma by high-performance liquid chromatography/electrospray ionization ion trap tandem mass spectrometry. Rapid communications in mass spectrometry : RCM, 2004, Volume: 18, Issue:11 Topics: Calibration; Carnitine; Chromatography, High Pressure Liquid; Humans; Methylmalonic Acid; Reference Standards; Reproducibility of Results; Sensitivity and Specificity; Spectrometry, Mass, Electrospray Ionization	2004
Increased formation of short-chain organic acids after chronic ethanol administration and its interaction with the carnitine pool in rat. Archives of biochemistry and biophysics, 2004, Nov-15, Volume: 431, Issue:2 Topics: Acids, Acyclic; Adrenergic beta-Antagonists; Animals; Carnitine; Central Nervous System Depressants; Drug Administration Schedule; Ethanol; Male; Methylmalonic Acid; Propionates; Propranolol; Rats; Rats, Wistar; Time Factors	2004
Prenatal diagnosis for organic acid disorders using two mass spectrometric methods, gas chromatography mass spectrometry and tandem mass spectrometry. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2005, Aug-25, Volume: 823, Issue:1 Topics: Amniotic Fluid; Carboxylic Acids; Carnitine; Female; Fetal Diseases; Gas Chromatography-Mass Spectrometry; Glutarates; Humans; Mass Spectrometry; Metabolism, Inborn Errors; Methylmalonic Acid; Pregnancy; Prenatal Diagnosis; Propionates; Reproducibility of Results; Sensitivity and Specificity; Spectrometry, Mass, Electrospray Ionization; Temperature	2005
Biomarker discovery, disease classification, and similarity query processing on high-throughput MS/MS data of inborn errors of metabolism. Journal of biomolecular screening, 2006, Volume: 11, Issue:1 Topics: Acyl-CoA Dehydrogenase; Biomarkers; Carnitine; Case-Control Studies; Humans; Mass Spectrometry; Metabolism, Inborn Errors; Methylmalonic Acid	2006
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
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
Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry. Rapid communications in mass spectrometry : RCM, 2007, Volume: 21, Issue:5 Topics: Adult; Carnitine; Child, Preschool; Female; Humans; Isomerism; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Spectrometry, Mass, Electrospray Ionization	2007
ESI-MS/MS study of acylcarnitine profiles in urine from patients with organic acidemias and fatty acid oxidation disorders. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2007, Volume: 855, Issue:1 Topics: Carnitine; Fatty Acids; Humans; Infant; Lipid Metabolism, Inborn Errors; Metabolism, Inborn Errors; Methylmalonic Acid; Oxidation-Reduction; Propionates; Spectrometry, Mass, Electrospray Ionization; Tandem Mass Spectrometry	2007
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. Brain : a journal of neurology, 2007, Volume: 130, Issue:Pt 3 Topics: Atlantic Islands; Brain; Carnitine; Deafness; DNA Mutational Analysis; DNA, Mitochondrial; Family Health; Female; Gene Frequency; Humans; Infant; Leigh Disease; Magnetic Resonance Imaging; Male; Methylmalonic Acid; Mitochondrial Encephalomyopathies; Muscle Hypotonia; Muscle, Skeletal; Mutation; Pedigree; Succinate-CoA Ligases	2007
Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry. Clinical chemistry, 2007, Volume: 53, Issue:7 Topics: Blood Specimen Collection; Carnitine; Chromatography, Liquid; False Positive Reactions; Humans; Infant, Newborn; Lactic Acid; Methylmalonic Acid; Neonatal Screening; Predictive Value of Tests; Tandem Mass Spectrometry	2007
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). Journal of inherited metabolic disease, 2007, Volume: 30, Issue:5 Topics: Adolescent; Carnitine; Carrier Proteins; Child; Cysteine; Diagnosis, Differential; DNA Mutational Analysis; Exons; Female; Folic Acid; Genetic Testing; Heterozygote; Homocysteine; Homocystinuria; Humans; Male; Marfan Syndrome; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Oxidoreductases; Pedigree; Phenotype; Treatment Outcome; Vitamin B 12; Vitamin B 6; Vitamins	2007
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
Metabolomics identifies perturbations in human disorders of propionate metabolism. Clinical chemistry, 2007, Volume: 53, Issue:12 Topics: Acetylcarnitine; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Biomarkers; Carnitine; Child; Chromatography, High Pressure Liquid; Humans; Methylmalonic Acid; Plasma; Propionates; Spectrometry, Mass, Electrospray Ionization	2007
Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid. Chinese medical journal, 2008, Feb-05, Volume: 121, Issue:3 Topics: Amniotic Fluid; Carnitine; Citrates; Female; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Male; Methylmalonic Acid; Pregnancy; Prenatal Diagnosis; Spectrometry, Mass, Electrospray Ionization	2008
Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation. Pediatric transplantation, 2010, Volume: 14, Issue:3 Topics: Carnitine; Child; Child, Preschool; Female; Humans; Infant; Liver Transplantation; Male; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase	2010
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
New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria. Mitochondrion, 2010, Volume: 10, Issue:4 Topics: Adolescent; Animals; Basal Ganglia; Carnitine; Child; Child, Preschool; Female; Genetic Diseases, Inborn; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Methylmalonic Acid; Mitochondrial Proteins; Models, Molecular; Protein Structure, Tertiary; Radiography; Succinate-CoA Ligases	2010
Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria. Journal of inherited metabolic disease, 2010, Volume: 33, Issue:Suppl 2 Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Blood Specimen Collection; Carnitine; Case-Control Studies; Chromatography, Liquid; False Positive Reactions; Gas Chromatography-Mass Spectrometry; Glycine; Humans; Infant, Newborn; Isovaleryl-CoA Dehydrogenase; Japan; Lactic Acid; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Screening; Pilot Projects; Predictive Value of Tests; Retrospective Studies; Severity of Illness Index; Tandem Mass Spectrometry	2010
Use of a long-chain triglyceride-restricted/medium-chain triglyceride-supplemented diet in a case of malonyl-CoA decarboxylase deficiency with cardiomyopathy. Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3 Topics: Angiotensin-Converting Enzyme Inhibitors; Captopril; Carboxy-Lyases; Cardiomyopathies; Carnitine; Child, Preschool; Combined Modality Therapy; Dietary Supplements; Female; Genetic Predisposition to Disease; Humans; Infant; Infant Formula; Infant Nutritional Physiological Phenomena; Infant, Newborn; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Mutation; Nutritional Status; Phenotype; Treatment Outcome; Triglycerides	2010
Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan. Journal of the Chinese Medical Association : JCMA, 2010, Volume: 73, Issue:6 Topics: Acetylcarnitine; Ammonia; Carnitine; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screening; Taiwan; Tandem Mass Spectrometry	2010
Prevention by L-carnitine of DNA damage induced by propionic and L-methylmalonic acids in human peripheral leukocytes in vitro. Mutation research, 2010, Sep-30, Volume: 702, Issue:1 Topics: Carnitine; Comet Assay; DNA Damage; Humans; Leukocytes; Methylmalonic Acid; Mutagens; Propionates	2010
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China. Journal of inherited metabolic disease, 2010, Volume: 33 Suppl 3 Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Carrier Proteins; Child, Preschool; China; Codon, Nonsense; DNA Mutational Analysis; Exons; Gas Chromatography-Mass Spectrometry; Gene Frequency; Genetic Association Studies; Genetic Predisposition to Disease; Heterozygote; Homocysteine; Homocystinuria; Homozygote; Humans; Infant; Infant, Newborn; Methylmalonic Acid; Oxidoreductases; Phenotype; Vitamin B 12 Deficiency	2010
Malonyl coenzyme A decarboxylase deficiency: early dietary restriction and time course of cardiomyopathy. Pediatrics, 2012, Volume: 130, Issue:2 Topics: Alleles; Carboxy-Lyases; Cardiomyopathies; Carnitine; Chromosome Aberrations; Chromosome Deletion; Codon, Terminator; Dietary Fats; DNA Mutational Analysis; Echocardiography, Doppler, Color; Female; Frameshift Mutation; Genes, Recessive; Homozygote; Humans; Infant; Infant Formula; Infant, Newborn; Isolated Noncompaction of the Ventricular Myocardium; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Neonatal Screening; Phenotype; Rare Diseases; Triglycerides	2012
[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2012, Volume: 50, Issue:6 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; China; Female; Folic Acid; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Hyperhomocysteinemia; Infant; Infant, Newborn; Male; Methylmalonic Acid; Neonatal Screening; Retrospective Studies; Vitamin B 12	2012
Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia. Cell biochemistry and biophysics, 2013, Volume: 67, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Base Sequence; Carnitine; Citrates; Exons; Female; Humans; Infant; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mutation, Missense; Propionates; Vitamin B 12; Vitamin B Complex	2013
[Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia]. Zhonghua yi xue za zhi, 2013, Feb-26, Volume: 93, Issue:8 Topics: Acetylcarnitine; Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Case-Control Studies; Child; Child, Preschool; Female; Gas Chromatography-Mass Spectrometry; Humans; Infant; Infant, Newborn; Male; Methylmalonic Acid; Tandem Mass Spectrometry; Young Adult	2013
[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
Maternal vitamin B12 deficiency detected in expanded newborn screening. Clinical biochemistry, 2014, Volume: 47, Issue:18 Topics: Carnitine; Female; Folic Acid; Homocysteine; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screening; Pregnancy; Pregnancy Complications; Transcobalamins; Vitamin B 12; Vitamin B 12 Deficiency	2014
[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2015, Volume: 53, Issue:1 Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases; Carnitine; Diet, Protein-Restricted; Hepatitis B Vaccines; Humans; Infant; Male; Methylmalonic Acid; Mutation; Vaccination; Vitamin B Complex; Vomiting	2015
Biochemical, molecular and outcome analysis of eight chinese asymptomatic individuals with methyl malonic acidemia detected through newborn screening. American journal of medical genetics. Part A, 2015, Volume: 167A, Issue:10 Topics: Acetylcarnitine; Acidosis; Asian People; Asymptomatic Diseases; Carboxy-Lyases; Carnitine; Carrier Proteins; Child; Citrates; Female; Gene Expression; Humans; Infant; Infant, Newborn; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mutation; Neonatal Screening; Oxidoreductases	2015
[Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria]. Zhonghua er ke za zhi = Chinese journal of pediatrics, 2016, Volume: 54, Issue:5 Topics: Amino Acid Metabolism, Inborn Errors; Asian People; Carnitine; Diagnosis, Differential; DNA Mutational Analysis; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Methylmalonic Acid; Mitochondrial Diseases; Mutation; Succinate-CoA Ligases	2016
Quantification of 2-methylcitric acid in dried blood spots improves newborn screening for propionic and methylmalonic acidemias. Journal of medical screening, 2017, Volume: 24, Issue:2 Topics: Acetylcarnitine; Algorithms; Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Chromatography, Liquid; Citrates; Dried Blood Spot Testing; False Positive Reactions; Humans; Infant, Newborn; Methylmalonic Acid; Neonatal Screening; Predictive Value of Tests; Reference Values; Referral and Consultation; Reproducibility of Results; Tandem Mass Spectrometry	2017
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. The Journal of biological chemistry, 2016, 09-23, Volume: 291, Issue:39 Topics: Amino Acid Metabolism, Inborn Errors; Ammonia; Animals; Biomarkers; Brain; Carnitine; Dietary Proteins; Disease Models, Animal; Gene Dosage; Gene Knock-In Techniques; Kidney; Methylmalonic Acid; Methylmalonyl-CoA Mutase; Mice; Mice, Knockout; Phenotype; Quantitative Trait, Heritable	2016
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
Metabolic profiling by reversed-phase/ion-exchange mass spectrometry. Journal of chromatography. B, Analytical technologies in the biomedical and life sciences, 2020, Apr-15, Volume: 1143 Topics: Amino Acids; Bile Acids and Salts; Carnitine; Chromatography, High Pressure Liquid; Chromatography, Ion Exchange; Chromatography, Reverse-Phase; Hormones; Humans; Hydrophobic and Hydrophilic Interactions; Isoleucine; Metabolome; Metabolomics; Methylmalonic Acid; Nucleosides; Small Molecule Libraries; Succinic Acid; Tandem Mass Spectrometry; Vitamins	2020
Determination of methylmalonic acid, 2-methylcitric acid, and total homocysteine in dried blood spots by liquid chromatography-tandem mass spectrometry: A reliable follow-up method for propionylcarnitine-related disorders in newborn screening. Journal of medical screening, 2021, Volume: 28, Issue:2 Topics: Carnitine; Chromatography, Liquid; Citrates; Follow-Up Studies; Homocysteine; Humans; Infant; Infant, Newborn; Methylmalonic Acid; Neonatal Screening; Prospective Studies; Retrospective Studies; Tandem Mass Spectrometry	2021
Diagnostic Challenges Using a 2-Tier Strategy for Methylmalonic Acidurias: Data from 1.2 Million Dried Blood Spots. Annals of nutrition & metabolism, 2020, Volume: 76, Issue:4 Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Diagnosis, Differential; Dried Blood Spot Testing; Female; Humans; Infant, Newborn; Male; Methylmalonic Acid; Neonatal Screening; Pilot Projects; Vitamin B 12 Deficiency	2020
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report. BMC medical genetics, 2020, 09-21, Volume: 21, Issue:1 Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Base Sequence; Carnitine; Child, Preschool; DNA; Gas Chromatography-Mass Spectrometry; Homocysteine; Humans; Hyperhomocysteinemia; Male; Methylmalonic Acid; Proteinuria	2020
Nutritional Management and Biochemical Outcomes during the Immediate Phase after Liver Transplant for Methylmalonic Acidemia. Nutrients, 2020, Sep-29, Volume: 12, Issue:10 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Diet, Protein-Restricted; Dietary Proteins; Female; Humans; Infant; Infant, Newborn; Liver Transplantation; Male; Methylmalonic Acid; Nutrition Therapy; Postoperative Care; Postoperative Period; Preoperative Period; Retrospective Studies; Young Adult	2020
Heterogenous Clinical Landscape in a Consanguineous Malonic Aciduria Family. International journal of molecular sciences, 2021, Nov-23, Volume: 22, Issue:23 Topics: Carboxy-Lyases; Carnitine; Child, Preschool; Consanguinity; Homozygote; Humans; Male; Malonates; Malonyl Coenzyme A; Metabolism, Inborn Errors; Methylmalonic Acid; Pedigree; Point Mutation	2021
Plasma Non-targeted Metabolomics Analysis of Yili Horses Raced on Tracks With Different Surface Hardness. Journal of equine veterinary science, 2023, Volume: 121 Topics: Animals; Ascorbic Acid; Carnitine; Hardness; Horses; Metabolomics; Methylmalonic Acid	2023
Late-onset cblC defect: clinical, biochemical and molecular analysis. Orphanet journal of rare diseases, 2023, 09-28, Volume: 18, Issue:1 Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Homocystinuria; Humans; Methylmalonic Acid; Mutation; Oxidoreductases; Vitamin B 12; Young Adult	2023