methylmalonic acid has been researched along with Hyperhomocysteinemia in 37 studies
Methylmalonic Acid: A malonic acid derivative which is a vital intermediate in the metabolism of fat and protein. Abnormalities in methylmalonic acid metabolism lead to methylmalonic aciduria. This metabolic disease is attributed to a block in the enzymatic conversion of methylmalonyl CoA to succinyl CoA.
methylmalonic acid : A dicarboxylic acid that is malonic acid in which one of the methylene hydrogens is substituted by a methyl group.
Hyperhomocysteinemia: Condition in which the plasma levels of homocysteine and related metabolites are elevated (
Excerpt | Relevance | Reference |
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"Hyperhomocysteinemia is associated with arterial stiffness, but underlying pathophysiological mechanisms explaining this association are to be revealed." | 9.19 | B-vitamin levels and genetics of hyperhomocysteinemia are not associated with arterial stiffness. ( Blom, H; Brouwer-Brolsma, EM; de Groot, LC; de Jongh, RT; Dhonukshe-Rutten, RA; Enneman, AW; Feskens, E; Geleijnse, JM; Ham, AH; Lips, P; Mattace-Raso, FU; Smulders, YM; Swart, KM; Uitterlinden, AG; van den Meiracker, AH; van der Velde, N; van der Zwaluw, NL; van Dijk, SC; van Meurs, J; van Schoor, NM; van Wijngaarden, JP, 2014) |
"Renal failure causes hyperhomocysteinemia, an important risk factor for cardiovascular disease and venous access thrombosis in end-stage renal disease (ESRD)." | 9.10 | Hydroxocobalamin reduces hyperhomocysteinemia in end-stage renal disease. ( Elian, KM; Hoffer, LJ, 2002) |
" Randomized placebo-controlled clinical trials of longer duration and using larger or more frequent parenteral doses are indicated to determine whether administration of this safe and inexpensive vitamin can improve hyperhomocysteinemia in ESRD." | 9.09 | Parenteral vitamin B12 reduces hyperhomocysteinemia in end-stage renal disease. ( Hoffer, LJ; Kaplan, LN; Mamer, OA, 2001) |
" CblC deficiency, an inborn error of cobalamin processing, is a rare cause of atypical hemolytic-uremic syndrome (aHUS) and results in hyperhomocysteinemia and methylmalonic aciduria." | 8.12 | The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency. ( Elmaghrabi, A; Gotway, G; Wolf, MTF; Wood, WD, 2022) |
"The association of moderate hyperhomocysteinemia (HHcy) (15-30 μmol/L) with cardiovascular diseases (CVD) has been challenged by the lack of benefit of vitamin supplementation to lowering homocysteine." | 8.02 | Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients. ( Guéant, JL; Jeannesson, E; Levy, J; Oussalah, A; Rodriguez-Guéant, RM; Wahl, D; Ziuly, S, 2021) |
"Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration." | 7.78 | Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration. ( Brosnan, JT; Brosnan, ME; Lamarre, SG; Molloy, AM; Reinke, SN; Sykes, BD, 2012) |
"This study aimed at assessing the relationship between thrombosis, hyperhomocysteinemia and vitamin B12 deficiency using a case-control study carried out in 326 patients with thrombosis (case group) and 351 patients from the same hospital (control group)." | 7.77 | Vitamin B12 deficiency, hyperhomocysteinemia and thrombosis: a case and control study. ( Cuesta, J; Férnandez, C; García-Moll, X; Martí-Fabregas, J; Piñana, JL; Queraltó, JM; Remacha, AF; Rodriguez, A; Sardà, MP; Souto, JC, 2011) |
"Hyperhomocysteinemia is a risk factor in obstetrical complications such as pre-eclampsia, 'hemolysis, elevated liver enzymes, low platelet' (HELLP)-syndrome and placental insufficiency." | 7.72 | Alteration of homocysteine catabolism in pre-eclampsia, HELLP syndrome and placental insufficiency. ( Geisel, J; Herrmann, W; Hübner, U; Koch, I; Obeid, R; Retzke, U, 2004) |
" Hyperhomocysteinemia (> 12 micromol/L) was present in 16% of the omnivores, 38% of the LV-LOV group, and 67% of the vegans." | 7.72 | Vitamin B-12 status, particularly holotranscobalamin II and methylmalonic acid concentrations, and hyperhomocysteinemia in vegetarians. ( Geisel, J; Herrmann, W; Obeid, R; Schorr, H, 2003) |
"Hyperhomocysteinemia is an accepted risk factor for coronary artery disease, but the determining factors are not fully understood." | 7.72 | Hyperhomocysteinemia and vitamin B-12 deficiency are more striking in Syrians than in Germans--causes and implications. ( Herrmann, W; Jouma, M; Obeid, R, 2003) |
" Forty-seven percent of the subjects had cobalamin deficiency (total cobalamin <150 pmol/L), 73% had low holoTC (<35 pmol/L), 77% had hyperhomocysteinemia (tHcy >15 micromol/L), and 73% had elevated serum MMA (>0." | 7.71 | Hyperhomocysteinemia and elevated methylmalonic acid indicate a high prevalence of cobalamin deficiency in Asian Indians. ( Gadkari, M; Guttormsen, AB; Joglekar, A; Orning, L; Refsum, H; Sayyad, MG; Schneede, J; Ueland, PM; Ulvik, A; Vollset, SE; Yajnik, CS, 2001) |
"Proteinuria were a primary presenting symptom, followed by anemia and neurologic symptoms (frequent convulsions and unstable walking, respectively)." | 5.56 | Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report. ( Chen, LQ; Chen, RY; Chen, XQ; Li, XZ; Lin, Q; Shen, YY; Wu, HY; Xu, QY; Zhu, XM; Zhu, Y, 2020) |
"Hyperhomocysteinemia is associated with arterial stiffness, but underlying pathophysiological mechanisms explaining this association are to be revealed." | 5.19 | B-vitamin levels and genetics of hyperhomocysteinemia are not associated with arterial stiffness. ( Blom, H; Brouwer-Brolsma, EM; de Groot, LC; de Jongh, RT; Dhonukshe-Rutten, RA; Enneman, AW; Feskens, E; Geleijnse, JM; Ham, AH; Lips, P; Mattace-Raso, FU; Smulders, YM; Swart, KM; Uitterlinden, AG; van den Meiracker, AH; van der Velde, N; van der Zwaluw, NL; van Dijk, SC; van Meurs, J; van Schoor, NM; van Wijngaarden, JP, 2014) |
"Hyperhomocysteinemia is a frequent finding after cardiac transplantation, but increased folate intake induces a decrease in total homocysteine concentrations." | 5.11 | Effects of folic acid fortification and multivitamin therapy on homocysteine and vitamin B(12) status in cardiac transplant recipients. ( Cole, DE; Delgado, DH; Evrovski, J; Keren, ES; Langman, LJ; Mamer, OA; Miner, SE; Miriuka, SG; Ross, HJ, 2004) |
"Renal failure causes hyperhomocysteinemia, an important risk factor for cardiovascular disease and venous access thrombosis in end-stage renal disease (ESRD)." | 5.10 | Hydroxocobalamin reduces hyperhomocysteinemia in end-stage renal disease. ( Elian, KM; Hoffer, LJ, 2002) |
" Randomized placebo-controlled clinical trials of longer duration and using larger or more frequent parenteral doses are indicated to determine whether administration of this safe and inexpensive vitamin can improve hyperhomocysteinemia in ESRD." | 5.09 | Parenteral vitamin B12 reduces hyperhomocysteinemia in end-stage renal disease. ( Hoffer, LJ; Kaplan, LN; Mamer, OA, 2001) |
"Non-insulin-dependent diabetes mellitus (NIDDM) and hyperhomocysteinemia are both associated with premature vascular disease." | 5.09 | Total homocysteine is associated with nephropathy in non-insulin-dependent diabetes mellitus. ( Allen, RH; Cohen, JA; Estacio, R; Jeffers, BW; Schrier, RW; Stabler, SP, 1999) |
" CblC deficiency, an inborn error of cobalamin processing, is a rare cause of atypical hemolytic-uremic syndrome (aHUS) and results in hyperhomocysteinemia and methylmalonic aciduria." | 4.12 | The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency. ( Elmaghrabi, A; Gotway, G; Wolf, MTF; Wood, WD, 2022) |
"The association of moderate hyperhomocysteinemia (HHcy) (15-30 μmol/L) with cardiovascular diseases (CVD) has been challenged by the lack of benefit of vitamin supplementation to lowering homocysteine." | 4.02 | Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients. ( Guéant, JL; Jeannesson, E; Levy, J; Oussalah, A; Rodriguez-Guéant, RM; Wahl, D; Ziuly, S, 2021) |
"A previously healthy 7-week-old boy developed bilateral central retinal artery occlusions in the presence of hyperhomocysteinemia and elevated serum methylmalonic acid and was found to have a transcobalamin receptor mutation." | 3.78 | Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia. ( Costakos, D; Karth, P; Kim, J; Singh, R, 2012) |
"Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration." | 3.78 | Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration. ( Brosnan, JT; Brosnan, ME; Lamarre, SG; Molloy, AM; Reinke, SN; Sykes, BD, 2012) |
"This study aimed at assessing the relationship between thrombosis, hyperhomocysteinemia and vitamin B12 deficiency using a case-control study carried out in 326 patients with thrombosis (case group) and 351 patients from the same hospital (control group)." | 3.77 | Vitamin B12 deficiency, hyperhomocysteinemia and thrombosis: a case and control study. ( Cuesta, J; Férnandez, C; García-Moll, X; Martí-Fabregas, J; Piñana, JL; Queraltó, JM; Remacha, AF; Rodriguez, A; Sardà, MP; Souto, JC, 2011) |
"TC genotype and its associations with indicators of B12 status, including total B12, holotranscobalamin (holoTC), methylmalonic acid and homocysteine, were evaluated in a cohort of elderly Latinos (N=554, age 60-93 years) from the Sacramento Area Latino Study on Aging (SALSA)." | 3.76 | Transcobalamin C776G genotype modifies the association between vitamin B12 and homocysteine in older Hispanics. ( Allen, LH; Garrod, MG; Green, R; Haan, MN; Miller, JW, 2010) |
" Hyperhomocysteinemia (> 12 micromol/L) was present in 16% of the omnivores, 38% of the LV-LOV group, and 67% of the vegans." | 3.72 | Vitamin B-12 status, particularly holotranscobalamin II and methylmalonic acid concentrations, and hyperhomocysteinemia in vegetarians. ( Geisel, J; Herrmann, W; Obeid, R; Schorr, H, 2003) |
"End-stage renal disease (ESRD) is associated with moderately severe hyperhomocysteinemia that is incompletely normalized by oral folic acid therapy and vitamin B12." | 3.72 | Parenteral vitamin B12 therapy of hyperhomocysteinemia in end-stage renal disease. ( Elian, KM; Hoffer, LJ, 2004) |
"Hyperhomocysteinemia is a risk factor in obstetrical complications such as pre-eclampsia, 'hemolysis, elevated liver enzymes, low platelet' (HELLP)-syndrome and placental insufficiency." | 3.72 | Alteration of homocysteine catabolism in pre-eclampsia, HELLP syndrome and placental insufficiency. ( Geisel, J; Herrmann, W; Hübner, U; Koch, I; Obeid, R; Retzke, U, 2004) |
"Methylenetetrahydrofolate reductase 677 (MTHFR 677) polymorphism may provoke hyperhomocysteinemia when folate status is low." | 3.72 | Homocysteine, methylenetetrahydrofolate reductase C677T polymorphism and the B-vitamins: a facet of nature-nurture interplay. ( Geisel, J; Herrmann, W; Obeid, R; Schorr, H; Zarzour, W, 2003) |
"Hyperhomocysteinemia is an accepted risk factor for coronary artery disease, but the determining factors are not fully understood." | 3.72 | Hyperhomocysteinemia and vitamin B-12 deficiency are more striking in Syrians than in Germans--causes and implications. ( Herrmann, W; Jouma, M; Obeid, R, 2003) |
" Forty-seven percent of the subjects had cobalamin deficiency (total cobalamin <150 pmol/L), 73% had low holoTC (<35 pmol/L), 77% had hyperhomocysteinemia (tHcy >15 micromol/L), and 73% had elevated serum MMA (>0." | 3.71 | Hyperhomocysteinemia and elevated methylmalonic acid indicate a high prevalence of cobalamin deficiency in Asian Indians. ( Gadkari, M; Guttormsen, AB; Joglekar, A; Orning, L; Refsum, H; Sayyad, MG; Schneede, J; Ueland, PM; Ulvik, A; Vollset, SE; Yajnik, CS, 2001) |
"Hyperhomocysteinemia, a well-recognized cardiovascular risk factor, is frequent in hemodialysis (HD) patients." | 3.71 | Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients. ( Funamizu, M; Hata, A; Hayashi, K; Hiejima, Y; Hirayama, H; Kawabata, M; Makita, Y; Nakamura, T; Saionji, K; Tago, K; Tajiri, M; Takano, H, 2002) |
"Hyperhomocysteinemia adversely affects fundamental aspects of fetal development, adulthood, and aging, but the role of elevated homocysteine levels in these birth defects and adult diseases remains unclear." | 3.71 | Genetic and molecular control of folate-homocysteine metabolism in mutant mice. ( Bale, A; Balling, R; Christensen, B; Colmenares, C; Ernest, S; Gilfix, BM; Hosack, A; Mamer, OA; McGrath, J; Nadeau, JH; Rodier, M; Rosenblatt, DS; Sankoff, D, 2002) |
"Proteinuria were a primary presenting symptom, followed by anemia and neurologic symptoms (frequent convulsions and unstable walking, respectively)." | 1.56 | Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report. ( Chen, LQ; Chen, RY; Chen, XQ; Li, XZ; Lin, Q; Shen, YY; Wu, HY; Xu, QY; Zhu, XM; Zhu, Y, 2020) |
"Screening average-risk adults for vitamin B12 deficiency is not recommended." | 1.46 | Vitamin B12 Deficiency: Recognition and Management. ( Goodbred, AJ; Langan, RC, 2017) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 1 (2.70) | 18.2507 |
2000's | 21 (56.76) | 29.6817 |
2010's | 12 (32.43) | 24.3611 |
2020's | 3 (8.11) | 2.80 |
Authors | Studies |
---|---|
Wood, WD | 1 |
Elmaghrabi, A | 1 |
Gotway, G | 1 |
Wolf, MTF | 1 |
Chen, RY | 1 |
Li, XZ | 1 |
Lin, Q | 1 |
Zhu, Y | 1 |
Shen, YY | 1 |
Xu, QY | 1 |
Zhu, XM | 1 |
Chen, LQ | 1 |
Wu, HY | 1 |
Chen, XQ | 1 |
Levy, J | 1 |
Rodriguez-Guéant, RM | 1 |
Oussalah, A | 1 |
Jeannesson, E | 1 |
Wahl, D | 1 |
Ziuly, S | 1 |
Guéant, JL | 1 |
Langan, RC | 1 |
Goodbred, AJ | 1 |
Liu, YP | 2 |
Yang, YL | 3 |
van Dijk, SC | 1 |
Enneman, AW | 1 |
van Meurs, J | 1 |
Swart, KM | 1 |
Ham, AH | 1 |
van Wijngaarden, JP | 1 |
Brouwer-Brolsma, EM | 1 |
van der Zwaluw, NL | 1 |
van Schoor, NM | 1 |
Dhonukshe-Rutten, RA | 1 |
de Groot, LC | 1 |
Lips, P | 1 |
Uitterlinden, AG | 1 |
Blom, H | 1 |
Geleijnse, JM | 1 |
Feskens, E | 1 |
de Jongh, RT | 1 |
Smulders, YM | 1 |
van den Meiracker, AH | 1 |
Mattace-Raso, FU | 1 |
van der Velde, N | 1 |
Han, B | 1 |
Cao, Z | 1 |
Tian, L | 1 |
Zou, H | 1 |
Yang, L | 1 |
Zhu, W | 1 |
Liu, Y | 1 |
Rutsch, F | 1 |
Gailus, S | 1 |
Miousse, IR | 2 |
Suormala, T | 1 |
Sagné, C | 1 |
Toliat, MR | 1 |
Nürnberg, G | 1 |
Wittkampf, T | 1 |
Buers, I | 1 |
Sharifi, A | 1 |
Stucki, M | 1 |
Becker, C | 1 |
Baumgartner, M | 1 |
Robenek, H | 1 |
Marquardt, T | 1 |
Höhne, W | 1 |
Gasnier, B | 1 |
Rosenblatt, DS | 4 |
Fowler, B | 1 |
Nürnberg, P | 1 |
Wang, F | 1 |
Han, LS | 1 |
Hu, YH | 1 |
Ye, J | 1 |
Qiu, WJ | 1 |
Zhang, YF | 1 |
Gao, XL | 1 |
Wang, Y | 1 |
Gu, XF | 1 |
Garrod, MG | 1 |
Allen, LH | 1 |
Haan, MN | 1 |
Green, R | 1 |
Miller, JW | 1 |
Carmel, R | 1 |
Bellevue, R | 1 |
Kelman, Z | 1 |
Watkins, D | 2 |
Remacha, AF | 1 |
Souto, JC | 1 |
Piñana, JL | 1 |
Sardà, MP | 1 |
Queraltó, JM | 1 |
Martí-Fabregas, J | 1 |
García-Moll, X | 1 |
Férnandez, C | 1 |
Rodriguez, A | 1 |
Cuesta, J | 1 |
Lamarre, SG | 1 |
Molloy, AM | 1 |
Reinke, SN | 1 |
Sykes, BD | 1 |
Brosnan, ME | 1 |
Brosnan, JT | 1 |
Karth, P | 1 |
Singh, R | 1 |
Kim, J | 1 |
Costakos, D | 1 |
Ma, YY | 1 |
Wu, TF | 1 |
Wang, Q | 1 |
Li, XY | 1 |
Ding, Y | 1 |
Song, JQ | 1 |
Huang, Y | 1 |
Møller, J | 1 |
Ahola, L | 1 |
Abrahamsson, L | 1 |
Herrmann, W | 5 |
Obeid, R | 4 |
Jouma, M | 1 |
Hyndman, ME | 1 |
Manns, BJ | 1 |
Snyder, FF | 1 |
Bridge, PJ | 1 |
Scott-Douglas, NW | 1 |
Fung, E | 1 |
Parsons, HG | 1 |
Arnadottir, M | 1 |
Hultberg, B | 2 |
Nilsson, K | 1 |
Isaksson, A | 1 |
Gustafson, L | 1 |
Schorr, H | 3 |
Zarzour, W | 1 |
Geisel, J | 4 |
Hoffer, LJ | 3 |
Elian, KM | 2 |
Miriuka, SG | 1 |
Langman, LJ | 1 |
Keren, ES | 1 |
Miner, SE | 1 |
Mamer, OA | 3 |
Delgado, DH | 1 |
Evrovski, J | 1 |
Ross, HJ | 1 |
Cole, DE | 1 |
Hübner, U | 2 |
Koch, I | 1 |
Retzke, U | 1 |
Boxer, AL | 1 |
Kramer, JH | 1 |
Johnston, K | 1 |
Goldman, J | 1 |
Finley, R | 1 |
Miller, BL | 1 |
Solomon, LR | 1 |
Stabler, SP | 1 |
Estacio, R | 1 |
Jeffers, BW | 1 |
Cohen, JA | 1 |
Allen, RH | 1 |
Schrier, RW | 1 |
Kaplan, LN | 1 |
Refsum, H | 1 |
Yajnik, CS | 1 |
Gadkari, M | 1 |
Schneede, J | 1 |
Vollset, SE | 1 |
Orning, L | 1 |
Guttormsen, AB | 1 |
Joglekar, A | 1 |
Sayyad, MG | 1 |
Ulvik, A | 1 |
Ueland, PM | 2 |
Zimbelmann, I | 1 |
Knapp, JP | 1 |
Bodis, M | 1 |
Bjørke Monsen, AL | 1 |
Nakamura, T | 1 |
Saionji, K | 1 |
Hiejima, Y | 1 |
Hirayama, H | 1 |
Tago, K | 1 |
Takano, H | 1 |
Tajiri, M | 1 |
Hayashi, K | 1 |
Kawabata, M | 1 |
Funamizu, M | 1 |
Makita, Y | 1 |
Hata, A | 1 |
Ernest, S | 1 |
Christensen, B | 1 |
Gilfix, BM | 1 |
Hosack, A | 1 |
Rodier, M | 1 |
Colmenares, C | 1 |
McGrath, J | 1 |
Bale, A | 1 |
Balling, R | 1 |
Sankoff, D | 1 |
Nadeau, JH | 1 |
1 review available for methylmalonic acid and Hyperhomocysteinemia
Article | Year |
---|---|
[Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC].
Topics: Adult; Age of Onset; Amino Acid Metabolism, Inborn Errors; Betaine; Carrier Proteins; Child; China; | 2013 |
7 trials available for methylmalonic acid and Hyperhomocysteinemia
Article | Year |
---|---|
B-vitamin levels and genetics of hyperhomocysteinemia are not associated with arterial stiffness.
Topics: Aged; Aged, 80 and over; Blood Pressure; Body Mass Index; Creatinine; Cross-Sectional Studies; Doubl | 2014 |
Vitamin B12 decreases, but does not normalize, homocysteine and methylmalonic acid in end-stage renal disease: a link with glycine metabolism and possible explanation of hyperhomocysteinemia in end-stage renal disease.
Topics: Cysteine; Genotype; Glycine; Homocysteine; Humans; Hyperhomocysteinemia; Kidney Failure, Chronic; Me | 2003 |
The effect of vitamin B12 on total plasma homocysteine concentration in folate-replete hemodialysis patients.
Topics: Female; Folic Acid; Homocysteine; Humans; Hyperhomocysteinemia; Male; Methylmalonic Acid; Middle Age | 2003 |
Effects of folic acid fortification and multivitamin therapy on homocysteine and vitamin B(12) status in cardiac transplant recipients.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Canada; Cohort Studies; Dietary Su | 2004 |
Total homocysteine is associated with nephropathy in non-insulin-dependent diabetes mellitus.
Topics: Adult; Aged; Albuminuria; Cystathionine; Diabetes Mellitus, Type 2; Diabetic Nephropathies; Female; | 1999 |
Parenteral vitamin B12 reduces hyperhomocysteinemia in end-stage renal disease.
Topics: Cysteine; Homocysteine; Humans; Hyperhomocysteinemia; Injections, Subcutaneous; Kidney Failure, Chro | 2001 |
Hydroxocobalamin reduces hyperhomocysteinemia in end-stage renal disease.
Topics: Aged; Female; Folic Acid; Homocysteine; Humans; Hydroxocobalamin; Hyperhomocysteinemia; Injections, | 2002 |
29 other studies available for methylmalonic acid and Hyperhomocysteinemia
Article | Year |
---|---|
The roles of homocysteinemia and methylmalonic acidemia in kidney injury in atypical hemolytic uremic syndrome caused by cobalamin C deficiency.
Topics: Acute Kidney Injury; Amino Acid Metabolism, Inborn Errors; Atypical Hemolytic Uremic Syndrome; Femal | 2022 |
Proteinuria as a presenting sign of combined methylmalonic acidemia and homocysteinemia: case report.
Topics: Adolescent; Amino Acid Metabolism, Inborn Errors; Amino Acids; Base Sequence; Carnitine; Child, Pres | 2020 |
Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients.
Topics: Adult; Cardiovascular Diseases; Child, Preschool; Cross-Sectional Studies; Female; Folic Acid; Folic | 2021 |
Vitamin B12 Deficiency: Recognition and Management.
Topics: Humans; Hyperhomocysteinemia; Methylmalonic Acid; Risk Factors; Vitamin B 12; Vitamin B 12 Deficienc | 2017 |
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China.
Topics: Amino Acid Metabolism, Inborn Errors; Carrier Proteins; China; DNA Mutational Analysis; Female; Gene | 2016 |
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B12 metabolism.
Topics: Child; Chromosome Deletion; Chromosome Mapping; Chromosomes, Human, Pair 6; Female; HeLa Cells; Huma | 2009 |
[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia].
Topics: Amino Acid Metabolism, Inborn Errors; Cysteine; DNA; DNA Mutational Analysis; Exons; Humans; Hyperho | 2009 |
Transcobalamin C776G genotype modifies the association between vitamin B12 and homocysteine in older Hispanics.
Topics: Aged; Aging; Analysis of Variance; California; Female; Genotype; Health Surveys; Hispanic or Latino; | 2010 |
Low cobalamin levels associated with sickle cell disease: Contrasting origins and clinical meanings in two instructive patients.
Topics: Adult; Anemia, Pernicious; Anemia, Sickle Cell; Autoantibodies; Depression; Female; Folic Acid; Gast | 2010 |
Novel splice site mutations and a large deletion in three patients with the cblF inborn error of vitamin B12 metabolism.
Topics: Exons; Frameshift Mutation; Genetic Association Studies; Genetic Testing; Heterozygote; Humans; Hype | 2011 |
Inborn errors of cobalamin absorption and metabolism.
Topics: Amino Acid Metabolism, Inborn Errors; Anemia, Megaloblastic; Cobamides; Homocysteine; Humans; Hyperh | 2011 |
Vitamin B12 deficiency, hyperhomocysteinemia and thrombosis: a case and control study.
Topics: Adult; Aged; Case-Control Studies; Female; Folic Acid; Homocysteine; Humans; Hyperhomocysteinemia; M | 2011 |
Formate can differentiate between hyperhomocysteinemia due to impaired remethylation and impaired transsulfuration.
Topics: Animals; Biomarkers; Brain; Folic Acid Deficiency; Formates; Homocysteine; Hyperhomocysteinemia; Liv | 2012 |
Bilateral central retinal artery occlusions in an infant with hyperhomocysteinemia.
Topics: Humans; Hydroxocobalamin; Hyperhomocysteinemia; Infant; Injections, Intramuscular; Male; Methylmalon | 2012 |
[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria].
Topics: Amino Acid Metabolism, Inborn Errors; Carnitine; Child; Child, Preschool; China; Female; Folic Acid; | 2012 |
Evaluation of the DPC IMMULITE 2000 assay for total homocysteine in plasma.
Topics: Chemistry, Clinical; Evaluation Studies as Topic; Homocysteine; Humans; Hyperhomocysteinemia; Immuno | 2002 |
Hyperhomocysteinemia and vitamin B-12 deficiency are more striking in Syrians than in Germans--causes and implications.
Topics: Adult; Arabs; Cholesterol, LDL; Coronary Disease; Female; Germany; Homocysteine; Humans; Hyperhomocy | 2003 |
Folate deficiency is a common finding in psychogeriatric patients.
Topics: Aged; Aged, 80 and over; Aging; Cognition Disorders; Female; Folic Acid; Folic Acid Deficiency; Homo | 2002 |
Homocysteine, methylenetetrahydrofolate reductase C677T polymorphism and the B-vitamins: a facet of nature-nurture interplay.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Female; Folic Acid; Homocysteine; Humans; Hyperhomocyste | 2003 |
Vitamin B-12 status, particularly holotranscobalamin II and methylmalonic acid concentrations, and hyperhomocysteinemia in vegetarians.
Topics: Adult; Aged; Biomarkers; Diet, Vegetarian; Female; Folic Acid; Homocysteine; Humans; Hyperhomocystei | 2003 |
Parenteral vitamin B12 therapy of hyperhomocysteinemia in end-stage renal disease.
Topics: Administration, Oral; Aged; Folic Acid; Humans; Hyperhomocysteinemia; Kidney Failure, Chronic; Methy | 2004 |
Alteration of homocysteine catabolism in pre-eclampsia, HELLP syndrome and placental insufficiency.
Topics: Cystathionine; Cystatin C; Cystatins; Female; Folic Acid; HELLP Syndrome; Homocysteine; Humans; Hype | 2004 |
Executive dysfunction in hyperhomocystinemia responds to homocysteine-lowering treatment.
Topics: Adult; Anticoagulants; Betaine; Cognition Disorders; Confusion; Disease Progression; Drug Therapy, C | 2005 |
Oral pharmacologic doses of cobalamin may not be as effective as parenteral cobalamin therapy in reversing hyperhomocystinemia and methylmalonic acidemia in apparently normal subjects.
Topics: Administration, Oral; Female; Humans; Hyperhomocysteinemia; Injections, Intramuscular; Methylenetetr | 2006 |
Hyperhomocysteinemia and elevated methylmalonic acid indicate a high prevalence of cobalamin deficiency in Asian Indians.
Topics: Adult; Biomarkers; Cardiovascular Diseases; Diabetes Mellitus; Diet, Vegetarian; Female; Folic Acid; | 2001 |
Genetic defects as important factors for moderate hyperhomocysteinemia.
Topics: 5-Methyltetrahydrofolate-Homocysteine S-Methyltransferase; Adult; Age Factors; Aged; Aged, 80 and ov | 2001 |
Total homocysteine is making its way into pediatric laboratory diagnostics.
Topics: Adult; Avitaminosis; Child; Diagnosis, Differential; Female; Folic Acid; Folic Acid Deficiency; HIV | 2001 |
Methylenetetrahydrofolate reductase genotype, vitamin B12, and folate influence plasma homocysteine in hemodialysis patients.
Topics: Cross-Sectional Studies; Dietary Supplements; Female; Folic Acid; Folic Acid Deficiency; Genotype; H | 2002 |
Genetic and molecular control of folate-homocysteine metabolism in mutant mice.
Topics: Animals; Blotting, Northern; Disease Models, Animal; Female; Folic Acid; Gene Expression Regulation; | 2002 |