-
1
-
-
0035130270
-
Recent insights into the molecular genetics of the homocysteine metabolism
-
Födinger M, Wagner OF, Hörl WH et al. Recent insights into the molecular genetics of the homocysteine metabolism. Kidney Int 2001: 59: 238-242.
-
(2001)
Kidney Int.
, vol.59
, pp. 238-242
-
-
Födinger, M.1
Wagner, O.F.2
Hörl, W.H.3
-
2
-
-
0028487161
-
Human methylenetetrahydrofolate reductase: Isolation of cDNA, mapping and mutation identification
-
Goyette P, Summer JS, Milos R et al. Human methylenetetrahydrofolate reductase: isolation of cDNA, mapping and mutation identification. Nat Genet 1994: 7: 195-200.
-
(1994)
Nat. Genet.
, vol.7
, pp. 195-200
-
-
Goyette, P.1
Summer, J.S.2
Milos, R.3
-
3
-
-
0001912321
-
Inherited disorders of folate and cobalamin transport and metabolism
-
8th edn. (Scriver CR, Beaudet AL, Sly WS, Valle D, eds). New York: McGraw-Hill
-
Rosenblatt DS, Fenton WA. Inherited disorders of folate and cobalamin transport and metabolism. In: The Metabolic and Molecular Bases of Inherited Disease, 8th edn. (Scriver CR, Beaudet AL, Sly WS, Valle D, eds). New York: McGraw-Hill, 2001: 3897-3933.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3897-3933
-
-
Rosenblatt, D.S.1
Fenton, W.A.2
-
4
-
-
0034190659
-
5,10-methylenetetrahydrofolate reductase gene variants and congenital anomalies: A HuGe review
-
Botto LD, Yang Q. 5,10-methylenetetrahydrofolate reductase gene variants and congenital anomalies: a HuGe review. Am J Epidemiol 2000: 151: 862-877.
-
(2000)
Am. J. Epidemiol.
, vol.151
, pp. 862-877
-
-
Botto, L.D.1
Yang, Q.2
-
5
-
-
0035552975
-
Polymorphism in the methylenetetrahydrofolate reductase gene. Clinical consequences
-
Schwahn B, Rozen R. Polymorphism in the methylenetetrahydrofolate reductase gene. Clinical consequences. Am J Pharmacogenomics 2001: 1: 189-201.
-
(2001)
Am. J. Pharmacogenomics
, vol.1
, pp. 189-201
-
-
Schwahn, B.1
Rozen, R.2
-
6
-
-
0029655724
-
Molecular genetic analysis in mild hyperhomocysteinemia: A common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease
-
Kluijtmans LAJ, Van den Heuvel LPWJ, Boers GHJ et al. Molecular genetic analysis in mild hyperhomocysteinemia: a common mutation in the methylenetetrahydrofolate reductase gene is a genetic risk factor for cardiovascular disease. Am J Hum Genet 1996: 58: 35-41.
-
(1996)
Am. J. Hum. Genet.
, vol.58
, pp. 35-41
-
-
Kluijtmans, L.A.J.1
Van den Heuvel, L.P.W.J.2
Boers, G.H.J.3
-
7
-
-
0029049553
-
A candidate genetic risk factor for vascular disease: A common mutation in methylenetetrahydrofolate reductase
-
Frosst P, Blom HJ, Milos R et al. A candidate genetic risk factor for vascular disease: a common mutation in methylenetetrahydrofolate reductase. Nat Genet 1995: 10: 111-113.
-
(1995)
Nat. Genet.
, vol.10
, pp. 111-113
-
-
Frosst, P.1
Blom, H.J.2
Milos, R.3
-
8
-
-
0023696435
-
Intermediate homocysteinemia: A thermolabile variant of methylenetetrahydrofolate reductase
-
Kang SS, Zhou J, Wong PWK et al. Intermediate homocysteinemia: a thermolabile variant of methylenetetrahydrofolate reductase. Am J Hum Genet 1988: 43: 414-421.
-
(1988)
Am. J. Hum. Genet.
, vol.43
, pp. 414-421
-
-
Kang, S.S.1
Zhou, J.2
Wong, P.W.K.3
-
9
-
-
0030027668
-
Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations
-
Jacques PF, Bostom AG, Williams RR et al. Relation between folate status, a common mutation in methylenetetrahydrofolate reductase, and plasma homocysteine concentrations. Circulation 1996: 93: 7-9.
-
(1996)
Circulation
, vol.93
, pp. 7-9
-
-
Jacques, P.F.1
Bostom, A.G.2
Williams, R.R.3
-
10
-
-
0030975769
-
The effects of folic acid supplementation on plasma total homocysteine are modulated by multivitamin use and methylenetetrahydrofolate reductase genotypes
-
Malinow MR, Nieto FJ, Kruger WD et al. The effects of folic acid supplementation on plasma total homocysteine are modulated by multivitamin use and methylenetetrahydrofolate reductase genotypes. Arterioscler Thromb Vasc Biol 1997: 17: 1157-1162.
-
(1997)
Arterioscler. Thromb. Vasc. Biol.
, vol.17
, pp. 1157-1162
-
-
Malinow, M.R.1
Nieto, F.J.2
Kruger, W.D.3
-
11
-
-
0031828880
-
Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages
-
Nelen WL, Blom HJ, Thomas CM et al. Methylenetetrahydrofolate reductase polymorphism affects the change in homocysteine and folate concentrations resulting from low dose folic acid supplementation in women with unexplained recurrent miscarriages. J Nutr 1998: 128: 1336-1341.
-
(1998)
J. Nutr.
, vol.128
, pp. 1336-1341
-
-
Nelen, W.L.1
Blom, H.J.2
Thomas, C.M.3
-
12
-
-
0031017820
-
Differences in methylenetetrahydrofolate reductase genotype frequencies between whites and blacks
-
Stevenson RE, Du Schwartz CE, YZ et al. Differences in methylenetetrahydrofolate reductase genotype frequencies between whites and blacks. Am J Hum Genet 1997: 60: 230-233.
-
(1997)
Am. J. Hum. Genet.
, vol.60
, pp. 230-233
-
-
Stevenson, R.E.1
Du Schwartz, C.E.2
Du Schwartz, Y.Z.3
-
13
-
-
0032005443
-
C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): Its frequency and impact on plasma homocysteine concentrations in different European populations
-
Gudnason V, Stansbie D, Scott J et al. C677T (thermolabile alanine/valine) polymorphism in methylenetetrahydrofolate reductase (MTHFR): its frequency and impact on plasma homocysteine concentrations in different European populations. Atherosclerosis 1998: 136: 347-354.
-
(1998)
Atherosclerosis
, vol.136
, pp. 347-354
-
-
Gudnason, V.1
Stansbie, D.2
Scott, J.3
-
14
-
-
85120137967
-
Heterogeneity in world distribution of the thermolabile C677T mutation in methylenetetrahydrofolate reductase
-
Pepe G, Camacho Vanegas O, Giusti B et al. Heterogeneity in world distribution of the thermolabile C677T mutation in methylenetetrahydrofolate reductase. Am J Hum Genet 1998: 3: 917-920.
-
(1998)
Am. J. Hum. Genet.
, vol.3
, pp. 917-920
-
-
Pepe, G.1
Camacho Vanegas, O.2
Giusti, B.3
-
15
-
-
0031961002
-
Worldwide distribution of a common methylenetetrahydrofolate reductase mutation
-
Schneider JA, Rees DC, Liu YT et al. Worldwide distribution of a common methylenetetrahydrofolate reductase mutation. Am J Hum Genet 1998: 62: 1258-1260.
-
(1998)
Am. J. Hum. Genet.
, vol.62
, pp. 1258-1260
-
-
Schneider, J.A.1
Rees, D.C.2
Liu, Y.T.3
-
16
-
-
0030911174
-
Disorders of homocysteine metabolism
-
Fowler B. Disorders of homocysteine metabolism. J Inherit Metab Dis 1997: 20: 270-285.
-
(1997)
J. Inherit. Metab. Dis.
, vol.20
, pp. 270-285
-
-
Fowler, B.1
-
19
-
-
0033805445
-
Neural tube defects and a disturbed folate dependent homocysteine metabolism
-
van der Put MJ, Blom HJ. Neural tube defects and a disturbed folate dependent homocysteine metabolism. Eur J Obstet Gynecol Reprod Biol 2000: 92: 57-61.
-
(2000)
Eur. J. Obstet. Gynecol. Reprod. Biol.
, vol.92
, pp. 57-61
-
-
van der Put, M.J.1
Blom, H.J.2
-
20
-
-
0033813820
-
Hypoxic-ischemic encephalopathy
-
Vannucci RC. Hypoxic-ischemic encephalopathy. Am J Perinatol 2000: 17: 113-120.
-
(2000)
Am. J. Perinatol.
, vol.17
, pp. 113-120
-
-
Vannucci, R.C.1
-
21
-
-
0041074538
-
Metabolic and destructive brain disorders
-
(Barkovich AJ, ed). New York: Raven Press
-
Barkovich AJ. Metabolic and destructive brain disorders. In: Pediatric Neuroimaging (Barkovich AJ, ed). New York: Raven Press, 1990: 35-75.
-
(1990)
Pediatric Neuroimaging
, pp. 35-75
-
-
Barkovich, A.J.1
-
26
-
-
0001964301
-
Analysis of purines and pyrimidines in blood, urine, and other physiological fluids
-
(Hommes FA, ed). New York: Wiley-Liss
-
Simmonds HA, Duley JA, Davies PM. Analysis of purines and pyrimidines in blood, urine, and other physiological fluids. In: Techniques in Diagnostic Human Biochemical Genetics. A Laboratory Manual (Hommes FA, ed). New York: Wiley-Liss, 1991: 397-424.
-
(1991)
Techniques in Diagnostic Human Biochemical Genetics. A Laboratory Manual
, pp. 397-424
-
-
Simmonds, H.A.1
Duley, J.A.2
Davies, P.M.3
-
27
-
-
0035281924
-
Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation)
-
Dodelson de Kremer R, Paschini-Capra A, Bacman S et al. Barth's syndrome-like disorder: a new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation). Am J Med Genet 2001: 99: 83-93.
-
(2001)
Am. J. Med. Genet.
, vol.99
, pp. 83-93
-
-
Dodelson de Kremer, R.1
Paschini-Capra, A.2
Bacman, S.3
-
28
-
-
18244398973
-
Laukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency
-
Dodelson de Kremer R, Latini A, Suormala T et al. Laukodystrophy and CSF purine abnormalities associated with isolated 3-methylcrotonyl-CoA carboxylase deficiency. Metab Brain Dis 2002: 17: 13-18.
-
(2002)
Metab. Brain Dis.
, vol.17
, pp. 13-18
-
-
Dodelson de Kremer, R.1
Latini, A.2
Suormala, T.3
-
30
-
-
0025848779
-
Rapid high-performance liquid chromatographic assay for total homocysteine levels in human serum
-
Ubbinks JB, Vermaak WJH, Bissbort S. Rapid high-performance liquid chromatographic assay for total homocysteine levels in human serum. J Chromatogr 1991: 565: 441-446.
-
(1991)
J. Chromatogr.
, vol.565
, pp. 441-446
-
-
Ubbinks, J.B.1
Vermaak, W.J.H.2
Bissbort, S.3
-
31
-
-
0028670786
-
Homocyst(e)ine and arterial occlusive diseases
-
Malinow MR. Homocyst(e)ine and arterial occlusive diseases. J Intern Med 1994: 236: 603-617.
-
(1994)
J. Intern. Med.
, vol.236
, pp. 603-617
-
-
Malinow, M.R.1
-
33
-
-
0032895522
-
The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia
-
Guenther BD, Sheppard CA, Tran P et al. The structure and properties of methylenetetrahydrofolate reductase from Escherichia coli suggest how folate ameliorates human hyperhomocysteinemia. Nat Struct Biol 1999: 6: 359-365.
-
(1999)
Nat. Struct. Biol.
, vol.6
, pp. 359-365
-
-
Guenther, B.D.1
Sheppard, C.A.2
Tran, P.3
-
34
-
-
0032937206
-
Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects
-
Christensen B, Arbour L, Tran P et al. Genetic polymorphisms in methylenetetrahydrofolate reductase and methionine synthase, folate levels in red blood cells, and risk of neural tube defects. Am J Med Genet 1999: 84: 151-157.
-
(1999)
Am. J. Med. Genet.
, vol.84
, pp. 151-157
-
-
Christensen, B.1
Arbour, L.2
Tran, P.3
-
35
-
-
0028301752
-
Differential regulation of folate receptor isoforms in normal and malignant tissues in vivo and in established cell lines. Physiological and clinical implications
-
Ross JF, Chaudhuri PK, Ratnam M. Differential regulation of folate receptor isoforms in normal and malignant tissues in vivo and in established cell lines. Physiological and clinical implications. Cancer 1993: 73: 2432-2443.
-
(1993)
Cancer
, vol.73
, pp. 2432-2443
-
-
Ross, J.F.1
Chaudhuri, P.K.2
Ratnam, M.3
-
36
-
-
0028206803
-
Identification of a novel folate receptor, a truncated receptor, and receptor type β in hematopoietic cells: cDNA cloning, expression, immunoreactivity, and tissue specificity
-
Shen F, Ross JF, Wang X et al. Identification of a novel folate receptor, a truncated receptor, and receptor type β in hematopoietic cells: cDNA cloning, expression, immunoreactivity, and tissue specificity. Biochemistry 1994: 33: 1209-1215.
-
(1994)
Biochemistry
, vol.33
, pp. 1209-1215
-
-
Shen, F.1
Ross, J.F.2
Wang, X.3
-
37
-
-
0029818146
-
Folate receptors
-
Antony AC. Folate receptors. Annu Rev Nutr 1996: 16: 501-521.
-
(1996)
Annu. Rev. Nutr.
, vol.16
, pp. 501-521
-
-
Antony, A.C.1
-
38
-
-
0032479413
-
Determination of folate transport pathways in cultured rat proximal tubule cells
-
Sikka PK, McMartin KE. Determination of folate transport pathways in cultured rat proximal tubule cells. Chemico-Biol Interacts 1998: 114: 15-31.
-
(1998)
Chemico-Biol. Interacts
, vol.114
, pp. 15-31
-
-
Sikka, P.K.1
McMartin, K.E.2
-
39
-
-
0017855335
-
Umbilical vein-artery differences of plasma amino acids in the last trimester of human pregnancy
-
Hayashi S, Sanada K, Sagawa N et al. Umbilical vein-artery differences of plasma amino acids in the last trimester of human pregnancy. Biol Neonate 1978: 34: 11-18.
-
(1978)
Biol. Neonate
, vol.34
, pp. 11-18
-
-
Hayashi, S.1
Sanada, K.2
Sagawa, N.3
-
41
-
-
0021967690
-
The metabolic and endocrine milieu of the human fetus and mother at 18-21 weeks of gestation. I. Plasma amino acid concentrations
-
Soltesz G, Harris D, MacKenzie IZ et al. The metabolic and endocrine milieu of the human fetus and mother at 18-21 weeks of gestation. I. Plasma amino acid concentrations. Pediatr Res 1985: 19: 91-93.
-
(1985)
Pediatr. Res.
, vol.19
, pp. 91-93
-
-
Soltesz, G.1
Harris, D.2
MacKenzie, I.Z.3
-
42
-
-
0023854113
-
Umbilical amino acid concentrations in appropriate and small for gestational age infants: A biochemical difference present in utero
-
Cetin I, Marconi AM, Bozzetti P et al. Umbilical amino acid concentrations in appropriate and small for gestational age infants: a biochemical difference present in utero. Am J Obstet Gynecol 1988: 158: 120-126.
-
(1988)
Am. J. Obstet. Gynecol.
, vol.158
, pp. 120-126
-
-
Cetin, I.1
Marconi, A.M.2
Bozzetti, P.3
-
43
-
-
0027313330
-
Protein turnover in the human fetus studied at term using stable isotope tracer amino acids
-
Chien FW, Smith K, Watt PW et al. Protein turnover in the human fetus studied at term using stable isotope tracer amino acids. Am J Physiol 1993: 265: 31-35.
-
(1993)
Am. J. Physiol.
, vol.265
, pp. 31-35
-
-
Chien, F.W.1
Smith, K.2
Watt, P.W.3
-
44
-
-
0028032390
-
Placental transport of nutrients to the fetus
-
Hay WW. Placental transport of nutrients to the fetus. Horm Res 1994: 42: 215-222.
-
(1994)
Horm. Res.
, vol.42
, pp. 215-222
-
-
Hay, W.W.1
-
45
-
-
0017287862
-
Placental amino acid uptake. III. Transport systems for neutral amino acids
-
Enders RH, Judd RM, Donohue TM et al. Placental amino acid uptake. III. Transport systems for neutral amino acids. Am J Physiol 1976: 230: 706-710.
-
(1976)
Am. J. Physiol.
, vol.230
, pp. 706-710
-
-
Enders, R.H.1
Judd, R.M.2
Donohue, T.M.3
-
46
-
-
8944238236
-
Maternal, fetal and neonatal amino acid metabolism
-
(Beard RW, Nathanielsz PW, eds). London: Butterworths
-
Mestyan J, Soltesz G. Maternal, fetal and neonatal amino acid metabolism. In: Fetal Physiology and Medicine (Beard RW, Nathanielsz PW, eds). London: Butterworths 1981: 177-211.
-
(1981)
Fetal Physiology and Medicine
, pp. 177-211
-
-
Mestyan, J.1
Soltesz, G.2
-
47
-
-
0031939674
-
The relationship between maternal and neonatal umbilical cord plasma homocyst(e)ine suggest a potential role for maternal homocyst(e)ine in fetal metabolism
-
Malinow MR, Rajkovic A, Duell PB et al. The relationship between maternal and neonatal umbilical cord plasma homocyst(e)ine suggest a potential role for maternal homocyst(e)ine in fetal metabolism. Am J Obstet Gynecol 1998: 178: 228-233.
-
(1998)
Am. J. Obstet. Gynecol.
, vol.178
, pp. 228-233
-
-
Malinow, M.R.1
Rajkovic, A.2
Duell, P.B.3
-
48
-
-
0036791893
-
On the mechanism of homocysteine pathophysiology and pathogenesis: A unifying hypothesis
-
Zhu BT. On the mechanism of homocysteine pathophysiology and pathogenesis: a unifying hypothesis. Histol Histopathol 2002: 17: 1283-1291.
-
(2002)
Histol. Histopathol.
, vol.17
, pp. 1283-1291
-
-
Zhu, B.T.1
|