carnitine has been researched along with CBS Deficiency in 16 studies
| Excerpt | Relevance | Reference |
|---|---|---|
| "Patients with combined methylmalonic acidemia and homocystinuria respond to a combined treatment consisting of supplementation of hydroxycobalamin, betaine, folic acid, vitamin B6 and L-carnitine with clinical and biochemical improvement." | 7.79 | [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment]. ( Gao, XL; Gu, XF; Han, LS; Huang, Z; Ji, WJ; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW, 2013) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC." | 7.76 | Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. ( Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C, 2010) |
| " Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria." | 7.74 | Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ( Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ, 2007) |
| "The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form of methylmalonic acidemia and homocystinuria." | 7.67 | Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. ( Allen, RH; Bartholomew, DW; Batshaw, ML; Francomano, CA; Roe, CR; Rosenblatt, D; Valle, DL, 1988) |
| " However, there is robust evidence for the success of early treatment with diet, betaine and/or pyridoxine for CBS deficiency and good evidence for the success of early betaine treatment in severe MTHFR deficiency." | 4.91 | Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines. ( Baumgartner, MR; Blom, HJ; Huemer, M; Kožich, V; Merinero, B; Pasquini, E; Ribes, A; Rinaldo, P, 2015) |
| "Patients with combined methylmalonic acidemia and homocystinuria respond to a combined treatment consisting of supplementation of hydroxycobalamin, betaine, folic acid, vitamin B6 and L-carnitine with clinical and biochemical improvement." | 3.79 | [Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment]. ( Gao, XL; Gu, XF; Han, LS; Huang, Z; Ji, WJ; Li, XY; Qiu, WJ; Wang, Y; Ye, J; Zhang, HW, 2013) |
| "Combined methylmalonic aciduria and homocystinuria, cobalamin C (cblC) type, is an inherited disorder of vitamin B(12) metabolism caused by mutations in MMACHC." | 3.76 | Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. ( Caggana, M; Cohen-Pfeffer, JL; Diaz, GA; Kirmse, BM; McGuire, PJ; Morrissey, MA; Salveson, BR; Sunny, S; Wasserstein, MP; Weisfeld-Adams, JD; Yu, C, 2010) |
| " Patients with the cobalamin C (CblC) defect have combined methylmalonic aciduria and homocystinuria." | 3.74 | Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). ( Blom, HJ; Heil, SG; Hogeveen, M; Kluijtmans, LA; Morava, E; van de Berg, GB; van Dijken, PJ, 2007) |
| "The use of hydroxocobalamin (OH-B12), betaine, carnitine, and folinic acid were studied in two children with the cobalamin C form of methylmalonic acidemia and homocystinuria." | 3.67 | Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria. ( Allen, RH; Bartholomew, DW; Batshaw, ML; Francomano, CA; Roe, CR; Rosenblatt, D; Valle, DL, 1988) |
| "Among 13 patients who exhibited spastic paraplegia as the main manifestation, 11 patients carried c." | 1.72 | Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment. ( Chen, Z; Dong, H; He, R; Jin, Y; Kang, L; Li, D; Li, M; Liu, X; Liu, Y; Qi, J; Song, J; Wang, F; Xiao, H; Yan, H; Yang, Y; Zhang, Y; Zheng, H, 2022) |
| "The pregnancy was uneventful and the delivery at term." | 1.36 | Treatment of cobalamin C (cblC) deficiency during pregnancy. ( Brunel-Guitton, C; Costa, T; Lambert, M; Mitchell, GA, 2010) |
| "Predominant clinical features include microcephaly, hydrocephalus, seizures, and white-matter changes on magnetic resonance imaging in early-onset cases." | 1.31 | Practical management of combined methylmalonicaciduria and homocystinuria. ( Bodamer, OA; Smith, DL, 2002) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (12.50) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 5 (31.25) | 29.6817 |
| 2010's | 6 (37.50) | 24.3611 |
| 2020's | 3 (18.75) | 2.80 |
| Authors | Studies |
|---|---|
| Chen, Z | 1 |
| Dong, H | 1 |
| Liu, Y | 2 |
| He, R | 1 |
| Song, J | 1 |
| Jin, Y | 1 |
| Li, M | 1 |
| Liu, X | 1 |
| Yan, H | 1 |
| Qi, J | 1 |
| Wang, F | 2 |
| Xiao, H | 1 |
| Zheng, H | 1 |
| Kang, L | 1 |
| Li, D | 1 |
| Zhang, Y | 2 |
| Yang, Y | 2 |
| Ding, S | 1 |
| Ling, S | 1 |
| Liang, L | 1 |
| Qiu, W | 2 |
| Zhang, H | 2 |
| Chen, T | 1 |
| Zhan, X | 1 |
| Xu, F | 1 |
| Gu, X | 2 |
| Han, L | 2 |
| Yahyaoui, R | 2 |
| Blasco-Alonso, J | 2 |
| Gonzalo-Marín, M | 1 |
| Benito, C | 1 |
| Serrano-Nieto, J | 1 |
| González-Gallego, I | 1 |
| Ruiz-Sala, P | 1 |
| Pérez, B | 1 |
| González-Lamuño, D | 1 |
| Keller, R | 1 |
| Chrastina, P | 1 |
| Pavlíková, M | 1 |
| Gouveia, S | 1 |
| Ribes, A | 2 |
| Kölker, S | 1 |
| Blom, HJ | 3 |
| Baumgartner, MR | 2 |
| Bártl, J | 1 |
| Dionisi-Vici, C | 1 |
| Gleich, F | 1 |
| Morris, AA | 1 |
| Kožich, V | 2 |
| Huemer, M | 2 |
| Barić, I | 1 |
| Ben-Omran, T | 1 |
| Bueno Delgado, MA | 1 |
| Carducci, C | 1 |
| Cassanello, M | 1 |
| Cerone, R | 1 |
| Couce, ML | 1 |
| Crushell, E | 1 |
| Delgado Pecellin, C | 1 |
| Dulin, E | 1 |
| Espada, M | 1 |
| Ferino, G | 1 |
| Fingerhut, R | 1 |
| Garcia Jimenez, I | 1 |
| Gonzalez Gallego, I | 1 |
| González-Irazabal, Y | 1 |
| Gramer, G | 1 |
| Juan Fita, MJ | 1 |
| Karg, E | 1 |
| Klein, J | 1 |
| Konstantopoulou, V | 1 |
| la Marca, G | 1 |
| Leão Teles, E | 1 |
| Leuzzi, V | 1 |
| Lilliu, F | 1 |
| Lopez, RM | 1 |
| Lund, AM | 1 |
| Mayne, P | 1 |
| Meavilla, S | 1 |
| Moat, SJ | 1 |
| Okun, JG | 1 |
| Pasquini, E | 2 |
| Pedron-Giner, CC | 1 |
| Racz, GZ | 1 |
| Ruiz Gomez, MA | 1 |
| Vilarinho, L | 1 |
| Zerjav Tansek, M | 1 |
| Zetterström, RH | 1 |
| Zeyda, M | 1 |
| Huang, Z | 1 |
| Han, LS | 1 |
| Ye, J | 2 |
| Qiu, WJ | 1 |
| Zhang, HW | 1 |
| Gao, XL | 1 |
| Wang, Y | 2 |
| Ji, WJ | 1 |
| Li, XY | 1 |
| Gu, XF | 1 |
| Rinaldo, P | 1 |
| Merinero, B | 1 |
| Weisfeld-Adams, JD | 1 |
| Morrissey, MA | 1 |
| Kirmse, BM | 1 |
| Salveson, BR | 1 |
| Wasserstein, MP | 1 |
| McGuire, PJ | 1 |
| Sunny, S | 1 |
| Cohen-Pfeffer, JL | 1 |
| Yu, C | 1 |
| Caggana, M | 1 |
| Diaz, GA | 1 |
| Lin, HJ | 1 |
| Neidich, JA | 1 |
| Salazar, D | 1 |
| Thomas-Johnson, E | 1 |
| Ferreira, BF | 1 |
| Kwong, AM | 1 |
| Lin, AM | 1 |
| Jonas, AJ | 1 |
| Levine, S | 1 |
| Lorey, F | 1 |
| Rosenblatt, DS | 2 |
| Brunel-Guitton, C | 1 |
| Costa, T | 1 |
| Mitchell, GA | 1 |
| Lambert, M | 1 |
| Gao, X | 1 |
| Smith, DL | 1 |
| Bodamer, OA | 2 |
| Heil, SG | 1 |
| Hogeveen, M | 1 |
| Kluijtmans, LA | 1 |
| van Dijken, PJ | 1 |
| van de Berg, GB | 1 |
| Morava, E | 1 |
| Sharma, AP | 1 |
| Greenberg, CR | 1 |
| Prasad, AN | 1 |
| Prasad, C | 1 |
| Allen, RJ | 1 |
| Hansch, DB | 1 |
| Wu, HL | 1 |
| Appel, SH | 1 |
| Beaudet, AL | 1 |
| Bartholomew, DW | 1 |
| Batshaw, ML | 1 |
| Allen, RH | 1 |
| Roe, CR | 1 |
| Rosenblatt, D | 1 |
| Valle, DL | 1 |
| Francomano, CA | 1 |
1 review available for carnitine and CBS Deficiency
| Article | Year |
|---|---|
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.
Topics: Acetylcarnitine; Betaine; Carnitine; Homocystinuria; Humans; Infant, Newborn; Methionine; Methylatio | 2015 |
15 other studies available for carnitine and CBS Deficiency
| Article | Year |
|---|---|
Late-onset cblC deficiency around puberty: a retrospective study of the clinical characteristics, diagnosis, and treatment.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child; Female; Homocyst | 2022 |
Late-onset cblC defect: clinical, biochemical and molecular analysis.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Homocys | 2023 |
Metabolic Serendipities of Expanded Newborn Screening.
Topics: Amino Acid Metabolism, Inborn Errors; Brain Diseases, Metabolic; Cardiomyopathies; Carnitine; Dried | 2020 |
Newborn screening for homocystinurias: Recent recommendations versus current practice.
Topics: Acetylcarnitine; Amino Acid Metabolism, Inborn Errors; Carnitine; Female; Glycine N-Methyltransferas | 2019 |
[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment].
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child; Child, Preschool | 2013 |
Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte.
Topics: Algorithms; Carnitine; Demography; False Positive Reactions; Female; Follow-Up Studies; Genetic Asso | 2010 |
Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening.
Topics: Adult; Carnitine; Carrier Proteins; Female; Homocystinuria; Humans; Infant, Newborn; Neonatal Screen | 2009 |
Treatment of cobalamin C (cblC) deficiency during pregnancy.
Topics: Amino Acid Metabolism, Inborn Errors; Aspirin; Carnitine; Carrier Proteins; Cells, Cultured; Combine | 2010 |
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China.
Topics: Amino Acid Metabolism, Inborn Errors; Biomarkers; Carnitine; Carrier Proteins; Child, Preschool; Chi | 2010 |
Practical management of combined methylmalonicaciduria and homocystinuria.
Topics: Adolescent; Adult; Betaine; Carnitine; Child; Child, Preschool; Female; Folic Acid; Gastrointestinal | 2002 |
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
Topics: Adolescent; Carnitine; Carrier Proteins; Child; Cysteine; Diagnosis, Differential; DNA Mutational An | 2007 |
Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.
Topics: Acute Kidney Injury; Betaine; Brain Diseases, Metabolic, Inborn; Carnitine; Carrier Proteins; Combin | 2007 |
Hypocarnitinemia in disorders of organic acid metabolism.
Topics: Adolescent; Adult; Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; Homocys | 1982 |
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC).
Topics: Adult; Carnitine; Diet, Protein-Restricted; Hematinics; Homocystinuria; Humans; Hydroxocobalamin; Ma | 2001 |
Therapeutic approaches to cobalamin-C methylmalonic acidemia and homocystinuria.
Topics: Administration, Oral; Amino Acid Metabolism, Inborn Errors; Betaine; Carnitine; Child, Preschool; Fe | 1988 |