-
1
-
-
0033808685
-
Folic acid: Nutritional biochemistry, molecular biology and role in disease processes
-
Lucock M. Folic acid: Nutritional biochemistry, molecular biology and role in disease processes. Mol Genet Metabol 71 (2000) 121-138
-
(2000)
Mol Genet Metabol
, vol.71
, pp. 121-138
-
-
Lucock, M.1
-
2
-
-
0035071706
-
Folate bioavailability
-
Gregory J.F. Folate bioavailability. J Nutr 131 Suppl. (2001) 1376S-1382S
-
(2001)
J Nutr
, vol.131
, Issue.SUPPL
-
-
Gregory, J.F.1
-
3
-
-
0029967412
-
Effect of increasing dietary folate on red-cell folate: Implications for prevention of neural tube defects
-
Cuskelly C.J., Nulty H., and Scott J.M. Effect of increasing dietary folate on red-cell folate: Implications for prevention of neural tube defects. Lancet 47 (1996) 657-659
-
(1996)
Lancet
, vol.47
, pp. 657-659
-
-
Cuskelly, C.J.1
Nulty, H.2
Scott, J.M.3
-
4
-
-
0030979178
-
Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: Implications for cancer and neuronal damage
-
Blount B.C., Mack M.M., Wehr C.M., et al. Folate deficiency causes uracil misincorporation into human DNA and chromosome breakage: Implications for cancer and neuronal damage. Proc Natl Acad Sci USA 94 (1977) 3290-3295
-
(1977)
Proc Natl Acad Sci USA
, vol.94
, pp. 3290-3295
-
-
Blount, B.C.1
Mack, M.M.2
Wehr, C.M.3
-
5
-
-
13144260676
-
Accumulation of mitochondrial DNA deletions is age, tissue and folate dependent in rats
-
Crott J., Sang-Woon C., Branda R., and Mason J. Accumulation of mitochondrial DNA deletions is age, tissue and folate dependent in rats. Mutat Res 570 (2005) 63-70
-
(2005)
Mutat Res
, vol.570
, pp. 63-70
-
-
Crott, J.1
Sang-Woon, C.2
Branda, R.3
Mason, J.4
-
6
-
-
0031022797
-
Folate deficiency in rats induces DNA strand breaks and hypomethylation with the p53 tumor suppressor gene
-
Kim Y.-I., Progribny I.P., and Basnakian A.G. Folate deficiency in rats induces DNA strand breaks and hypomethylation with the p53 tumor suppressor gene. Am J Clin Nutr 65 (1997) 46-52
-
(1997)
Am J Clin Nutr
, vol.65
, pp. 46-52
-
-
Kim, Y.-I.1
Progribny, I.P.2
Basnakian, A.G.3
-
7
-
-
0033801586
-
Folate, DNA methylation and gene expression: Factors of nature and nurture
-
Jacob R.A. Folate, DNA methylation and gene expression: Factors of nature and nurture. Am J Clin Nutr 72 (2000) 903-904
-
(2000)
Am J Clin Nutr
, vol.72
, pp. 903-904
-
-
Jacob, R.A.1
-
8
-
-
29144499414
-
Inherited disorders of neurotransmitters in children and adults
-
Phillip L., Pearl A., Philip K., et al. Inherited disorders of neurotransmitters in children and adults. Clin Biochem 38 (2005) 1051-1058
-
(2005)
Clin Biochem
, vol.38
, pp. 1051-1058
-
-
Phillip, L.1
Pearl, A.2
Philip, K.3
-
9
-
-
0001912321
-
Inherited disorders of folate and cobalamin transport and metabolism
-
Scriver C.R., Beaudet A.L., and Sly W.S. (Eds), McGraw-Hill, New York
-
Rosenblatt D., and Fenton W.A. Inherited disorders of folate and cobalamin transport and metabolism. In: Scriver C.R., Beaudet A.L., and Sly W.S. (Eds). The metabolic and molecular bases of inherited disease. 8th ed (2001), McGraw-Hill, New York 3897-3933
-
(2001)
The metabolic and molecular bases of inherited disease. 8th ed
, pp. 3897-3933
-
-
Rosenblatt, D.1
Fenton, W.A.2
-
10
-
-
17444375365
-
MeCP2 in neurons: Closing in on the causes of Rett syndrome
-
Caballero M., and Hendrich B. MeCP2 in neurons: Closing in on the causes of Rett syndrome. Hum Mol Genet 14 (2005) 19-26
-
(2005)
Hum Mol Genet
, vol.14
, pp. 19-26
-
-
Caballero, M.1
Hendrich, B.2
-
11
-
-
0023854165
-
Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency
-
Hyland K., Smith I., Bottiglieri T., et al. Demyelination and decreased S-adenosylmethionine in 5,10-methylenetetrahydrofolate reductase deficiency. Neurology 38 (1988) 459-462
-
(1988)
Neurology
, vol.38
, pp. 459-462
-
-
Hyland, K.1
Smith, I.2
Bottiglieri, T.3
-
12
-
-
12844285542
-
Folate-induced reversal of leukoencephalopathy and intellectual decline in methylenetetrahydrofolate reductase deficiency: Variable response in siblings
-
Kamath Tallur K., Johnson D., Kirk J., Sandercock P., and Minns R. Folate-induced reversal of leukoencephalopathy and intellectual decline in methylenetetrahydrofolate reductase deficiency: Variable response in siblings. Dev Med Child Neurol 47 (2005) 53-56
-
(2005)
Dev Med Child Neurol
, vol.47
, pp. 53-56
-
-
Kamath Tallur, K.1
Johnson, D.2
Kirk, J.3
Sandercock, P.4
Minns, R.5
-
13
-
-
0036712565
-
Folate deficiency alters melatonin secretion in rats
-
Fournier I., Ploye F., Cottet-Emard J., Brun J., and Claustrat B. Folate deficiency alters melatonin secretion in rats. J Nutr 132 (2002) 2781-2784
-
(2002)
J Nutr
, vol.132
, pp. 2781-2784
-
-
Fournier, I.1
Ploye, F.2
Cottet-Emard, J.3
Brun, J.4
Claustrat, B.5
-
14
-
-
0030730528
-
Folate and cobalamin in psychiatric illness
-
Hutto B.R. Folate and cobalamin in psychiatric illness. Compr Psychiatry 38 (1997) 305-314
-
(1997)
Compr Psychiatry
, vol.38
, pp. 305-314
-
-
Hutto, B.R.1
-
15
-
-
0001716641
-
Amendment of the standards of identity for enriched grain products to require addition of folic acid
-
US Department of Health and Human Services, Food and Drug Administration Food Standards
-
US Department of Health and Human Services, Food and Drug Administration Food Standards. Amendment of the standards of identity for enriched grain products to require addition of folic acid. Fed Reg 61 (1996) 8781-8807
-
(1996)
Fed Reg
, vol.61
, pp. 8781-8807
-
-
-
16
-
-
9244222563
-
Cobalamin and folate responsive disorders. International review of child neurology series
-
Baxter P. (Ed), MacKeith Press, London
-
Surtees R. Cobalamin and folate responsive disorders. International review of child neurology series. In: Baxter P. (Ed). Vitamin responsive conditions in pediatric neurology (2001), MacKeith Press, London 96-109
-
(2001)
Vitamin responsive conditions in pediatric neurology
, pp. 96-109
-
-
Surtees, R.1
-
17
-
-
0031033485
-
Bio-availability of folate
-
Gregory J.F. Bio-availability of folate. Eur J Clin Nutr 51 (1997) 554-559
-
(1997)
Eur J Clin Nutr
, vol.51
, pp. 554-559
-
-
Gregory, J.F.1
-
19
-
-
0017397601
-
Serum folates in man
-
Ratanasthien K., Blair J.A., Leeming R.J., Cooke W.T., and Melikian V. Serum folates in man. J Clin Pathol 30 (1977) 438-448
-
(1977)
J Clin Pathol
, vol.30
, pp. 438-448
-
-
Ratanasthien, K.1
Blair, J.A.2
Leeming, R.J.3
Cooke, W.T.4
Melikian, V.5
-
20
-
-
0026049546
-
High affinity folate binding in human choroids plexus
-
Holm J., Hansen S.I., Hoier-Madsen M., and Bostad L. High affinity folate binding in human choroids plexus. Biochem J 280 (1991) 267-271
-
(1991)
Biochem J
, vol.280
, pp. 267-271
-
-
Holm, J.1
Hansen, S.I.2
Hoier-Madsen, M.3
Bostad, L.4
-
21
-
-
0025336152
-
Folate-binding proteins
-
Henderson G.B. Folate-binding proteins. Annu Rev Nutr 10 (1990) 319-335
-
(1990)
Annu Rev Nutr
, vol.10
, pp. 319-335
-
-
Henderson, G.B.1
-
22
-
-
0031749452
-
Genetic defects of cobalamin and folate metabolism
-
Fowler B. Genetic defects of cobalamin and folate metabolism. Eur J Pediatr 157 Suppl. (1988) S60-S66
-
(1988)
Eur J Pediatr
, vol.157
, Issue.SUPPL
-
-
Fowler, B.1
-
23
-
-
0024590398
-
A rapid and specific HPLC-electrochemical method for the determination of endogenous 5-methyltetrahydrofolic acid in plasma using solid phase sample preparation with internal standardization
-
Lucock M.D., Hartley R., and Smithells R.W. A rapid and specific HPLC-electrochemical method for the determination of endogenous 5-methyltetrahydrofolic acid in plasma using solid phase sample preparation with internal standardization. Biomed Chromatogr 3 (1989) 58-64
-
(1989)
Biomed Chromatogr
, vol.3
, pp. 58-64
-
-
Lucock, M.D.1
Hartley, R.2
Smithells, R.W.3
-
25
-
-
1942439040
-
Folate receptor endocytosis and trafficking
-
Sabharanjak S., and Mayor S. Folate receptor endocytosis and trafficking. Adv Drug Deliv Rev 56 (2004) 1099-1109
-
(2004)
Adv Drug Deliv Rev
, vol.56
, pp. 1099-1109
-
-
Sabharanjak, S.1
Mayor, S.2
-
26
-
-
1942535095
-
New perspectives on folate catabolism
-
Kamen B.A., and Smith A.K. New perspectives on folate catabolism. Ann Drug Deliv Rev 56 (2004) 1085-1097
-
(2004)
Ann Drug Deliv Rev
, vol.56
, pp. 1085-1097
-
-
Kamen, B.A.1
Smith, A.K.2
-
27
-
-
0032938097
-
Blood-brain barrier transport of reduced folic acid
-
Wu D., and Pardridge W.M. Blood-brain barrier transport of reduced folic acid. Pharm Res 16 (1999) 415-419
-
(1999)
Pharm Res
, vol.16
, pp. 415-419
-
-
Wu, D.1
Pardridge, W.M.2
-
28
-
-
0026734838
-
Folate binding protein from kidney brush border membranes contains components of a glycoinositol phospholipids anchor
-
Lee H.C., Shoda R., Krall J.A., Foster I.D., Selhub J., and Rosenberry T.L. Folate binding protein from kidney brush border membranes contains components of a glycoinositol phospholipids anchor. Biochemistry 31 (1992) 3236-3243
-
(1992)
Biochemistry
, vol.31
, pp. 3236-3243
-
-
Lee, H.C.1
Shoda, R.2
Krall, J.A.3
Foster, I.D.4
Selhub, J.5
Rosenberry, T.L.6
-
29
-
-
0026476410
-
Cellular localization of the folate receptor, potential role in drug toxicity and folate homeostasis
-
Weitman S.D., Weinberg A.G., Coney L.R., Zurwski V.R., Jennings D.S., and Kamen B.A. Cellular localization of the folate receptor, potential role in drug toxicity and folate homeostasis. Cancer Res 52 (1992) 6708-6711
-
(1992)
Cancer Res
, vol.52
, pp. 6708-6711
-
-
Weitman, S.D.1
Weinberg, A.G.2
Coney, L.R.3
Zurwski, V.R.4
Jennings, D.S.5
Kamen, B.A.6
-
30
-
-
0027503126
-
Internalisation and intracellular transport of folate-binding protein in rat kidney proximal tubule
-
Birn H., Selhub J., and Christensen E.I. Internalisation and intracellular transport of folate-binding protein in rat kidney proximal tubule. Am J Physiol 264 (1993) 302-310
-
(1993)
Am J Physiol
, vol.264
, pp. 302-310
-
-
Birn, H.1
Selhub, J.2
Christensen, E.I.3
-
31
-
-
0024454694
-
Micronutrient homeostasis in mammalian brain and cerebrospinal fluid
-
Spector R. Micronutrient homeostasis in mammalian brain and cerebrospinal fluid. J Neurochem 53 (1989) 1667-1674
-
(1989)
J Neurochem
, vol.53
, pp. 1667-1674
-
-
Spector, R.1
-
32
-
-
33750624162
-
Micronutrient and urate transport in choroid plexus and kindney: Implications for drug therapy
-
Spector R., and Johanson C. Micronutrient and urate transport in choroid plexus and kindney: Implications for drug therapy. Pharm Res 23 (2006) 2515-2524
-
(2006)
Pharm Res
, vol.23
, pp. 2515-2524
-
-
Spector, R.1
Johanson, C.2
-
33
-
-
0035797082
-
Localization of the murine reduced folate carrier as assessed by immunochistochemical analysis
-
Wang Y., Zhao R., Russel R.G., and Goldman I.D. Localization of the murine reduced folate carrier as assessed by immunochistochemical analysis. Biochim Biophys Acta 1513 (2001) 49-54
-
(2001)
Biochim Biophys Acta
, vol.1513
, pp. 49-54
-
-
Wang, Y.1
Zhao, R.2
Russel, R.G.3
Goldman, I.D.4
-
34
-
-
0001564548
-
Methionine biosynthesis
-
Blakley R.L., and Benkovic S.J. (Eds), Wiley, New York
-
Matthews R.G. Methionine biosynthesis. In: Blakley R.L., and Benkovic S.J. (Eds). Folates and pterins (1984), Wiley, New York 497-554
-
(1984)
Folates and pterins
, pp. 497-554
-
-
Matthews, R.G.1
-
35
-
-
0032937408
-
Folate deficiency beyond megaloblastic anemia: Hyperhomocysteinemia and other manifestations of dysfunctional folate status
-
Green R., and Miller J. Folate deficiency beyond megaloblastic anemia: Hyperhomocysteinemia and other manifestations of dysfunctional folate status. Semin Hematol 36 (1999) 47-64
-
(1999)
Semin Hematol
, vol.36
, pp. 47-64
-
-
Green, R.1
Miller, J.2
-
36
-
-
33746785592
-
Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: Reference values for a paediatric population
-
Ormarzabal A., Garcia-Cazorla A., Perez-Duenas B., et al. Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: Reference values for a paediatric population. Clin Chim Acta 371 (2006) 159-162
-
(2006)
Clin Chim Acta
, vol.371
, pp. 159-162
-
-
Ormarzabal, A.1
Garcia-Cazorla, A.2
Perez-Duenas, B.3
-
37
-
-
0036990821
-
Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: A novel neurometabolic condition responding to folinic acid substitution
-
Ramaekers V.T., Haeusler M., Opladen T., Heimann G., and Blau N. Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: A novel neurometabolic condition responding to folinic acid substitution. Neuropediatrics 33 (2002) 301-308
-
(2002)
Neuropediatrics
, vol.33
, pp. 301-308
-
-
Ramaekers, V.T.1
Haeusler, M.2
Opladen, T.3
Heimann, G.4
Blau, N.5
-
38
-
-
20144366421
-
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid
-
Moretti P., Sahoo T., Hyland K., et al. Cerebral folate deficiency with developmental delay, autism, and response to folinic acid. Neurology 64 (2005) 1088-1090
-
(2005)
Neurology
, vol.64
, pp. 1088-1090
-
-
Moretti, P.1
Sahoo, T.2
Hyland, K.3
-
39
-
-
18344395924
-
Autoantibodies to folate receptors in the cerebral folate deficiency syndrome
-
Ramaekers V.T., Sheldon P., Rothenberg M.D., et al. Autoantibodies to folate receptors in the cerebral folate deficiency syndrome. N Engl J Med 352 (2005) 1985-1991
-
(2005)
N Engl J Med
, vol.352
, pp. 1985-1991
-
-
Ramaekers, V.T.1
Sheldon, P.2
Rothenberg, M.D.3
-
40
-
-
0000604539
-
Amino acid sequence homology between human and bovine low molecular weight folate binding protein isolated from milk
-
Svendsen I., Hansen S.I., Holm J., and Lyngbye J. Amino acid sequence homology between human and bovine low molecular weight folate binding protein isolated from milk. Carlsberg Res Commun 47 (1982) 371-376
-
(1982)
Carlsberg Res Commun
, vol.47
, pp. 371-376
-
-
Svendsen, I.1
Hansen, S.I.2
Holm, J.3
Lyngbye, J.4
-
41
-
-
32044475137
-
Cerebral folate deficiency and leucoencephalopathy caused by a mitochondrial DNA deletion
-
Pineida M., Ormazabal A., Lopez-Gallardo E., et al. Cerebral folate deficiency and leucoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol 59 (2006) 394-398
-
(2006)
Ann Neurol
, vol.59
, pp. 394-398
-
-
Pineida, M.1
Ormazabal, A.2
Lopez-Gallardo, E.3
-
42
-
-
0020585476
-
Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate
-
Allen M.C.T., DiMauro S., and Coulter D. Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate. Ann Neurol 13 (1983) 679-681
-
(1983)
Ann Neurol
, vol.13
, pp. 679-681
-
-
Allen, M.C.T.1
DiMauro, S.2
Coulter, D.3
-
44
-
-
0034283541
-
Kearns-Sayre syndrome: Oncocytic transformation of choroids plexus epithelium
-
Tanji K., Schon E., Di Mauro S., and Bonilla E. Kearns-Sayre syndrome: Oncocytic transformation of choroids plexus epithelium. J Neurol Sci 178 (2000) 29-36
-
(2000)
J Neurol Sci
, vol.178
, pp. 29-36
-
-
Tanji, K.1
Schon, E.2
Di Mauro, S.3
Bonilla, E.4
-
45
-
-
31544478861
-
Cerebrospinal fluid concentrations of folate biogenic amines and pterins in Rett syndrome: Treatment with folic acid
-
Ormazabal A., Artuch R., Vilaseca M.A., Aracil A., and Pineda M. Cerebrospinal fluid concentrations of folate biogenic amines and pterins in Rett syndrome: Treatment with folic acid. Neuropediatrics 6 (2005) 380-385
-
(2005)
Neuropediatrics
, vol.6
, pp. 380-385
-
-
Ormazabal, A.1
Artuch, R.2
Vilaseca, M.A.3
Aracil, A.4
Pineda, M.5
-
46
-
-
10744222971
-
Reduced folate transport to the CNS in female Rett patients
-
Ramaekers V., Hansen S.J., Holm J., et al. Reduced folate transport to the CNS in female Rett patients. Neurology 61 (2003) 506-514
-
(2003)
Neurology
, vol.61
, pp. 506-514
-
-
Ramaekers, V.1
Hansen, S.J.2
Holm, J.3
-
47
-
-
0041834652
-
Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: A new phenotype
-
Blau N., Bonafe L., Kragenlog-Mann I., et al. Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: A new phenotype. Neurology 61 (2003) 642-647
-
(2003)
Neurology
, vol.61
, pp. 642-647
-
-
Blau, N.1
Bonafe, L.2
Kragenlog-Mann, I.3
-
48
-
-
0028029029
-
Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system
-
Wevers R.A., Hansen S.I., van Hellenburg-Huber J.L., Holm J., Holer-Madsen M., and Jongen P.J. Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system. J Neurol Neurosurg Psychiatry 57 (1994) 223-226
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 223-226
-
-
Wevers, R.A.1
Hansen, S.I.2
van Hellenburg-Huber, J.L.3
Holm, J.4
Holer-Madsen, M.5
Jongen, P.J.6
-
49
-
-
0029042032
-
Folinic acid responsive seizures: A new syndrome?
-
Hyland K., Buist N.R., Powel B.R., Hoffman G.F., Rating D., McGrath J., and Acworth I.N. Folinic acid responsive seizures: A new syndrome?. J Inherit Metab Dis 18 (1995) 177-181
-
(1995)
J Inherit Metab Dis
, vol.18
, pp. 177-181
-
-
Hyland, K.1
Buist, N.R.2
Powel, B.R.3
Hoffman, G.F.4
Rating, D.5
McGrath, J.6
Acworth, I.N.7
-
50
-
-
0042383463
-
Folinic acid responsive seizures presenting as breakthrough seizures in a 3 month old boy
-
Frye R.E., Donner E., Golja A., and Rooney C.M. Folinic acid responsive seizures presenting as breakthrough seizures in a 3 month old boy. J Child Neurol 18 (2003) 562-569
-
(2003)
J Child Neurol
, vol.18
, pp. 562-569
-
-
Frye, R.E.1
Donner, E.2
Golja, A.3
Rooney, C.M.4
-
52
-
-
31944445736
-
Folinic acid responsive seizures initially responsive to pyridoxine
-
Nicolai J., van Kranen-Mastenbroek V., Wevers R.A., Hurkx W., and Vles J. Folinic acid responsive seizures initially responsive to pyridoxine. Pediatr Neurol 34 (2006) 164-167
-
(2006)
Pediatr Neurol
, vol.34
, pp. 164-167
-
-
Nicolai, J.1
van Kranen-Mastenbroek, V.2
Wevers, R.A.3
Hurkx, W.4
Vles, J.5
-
53
-
-
0037000428
-
Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid responsive seizures
-
Hyland K., and Arnold L.A. Value of lumbar puncture in the diagnosis of infantile epilepsy and folinic acid responsive seizures. J Child Neurol 17 Suppl (2002) S48-S55
-
(2002)
J Child Neurol
, vol.17
, Issue.SUPPL
-
-
Hyland, K.1
Arnold, L.A.2
-
54
-
-
0043257021
-
Folinic acid responsive seizures. International review of child neurology series
-
Baxter P. (Ed), MacKeith Press, London
-
Hyland K. Folinic acid responsive seizures. International review of child neurology series. In: Baxter P. (Ed). Vitamin responsive conditions in pediatric neurology (2001), MacKeith Press, London 54-61
-
(2001)
Vitamin responsive conditions in pediatric neurology
, pp. 54-61
-
-
Hyland, K.1
-
55
-
-
0032815311
-
Folic acid for the prevention of neural tube defects
-
Committee on Genetics, American Academy of Pediatrics
-
Committee on Genetics, American Academy of Pediatrics. Folic acid for the prevention of neural tube defects. Pediatrics 104 (1999) 325-327
-
(1999)
Pediatrics
, vol.104
, pp. 325-327
-
-
-
56
-
-
35048815686
-
Neural tube defects and childhood brain tumors: the role of maternal vitamin supplementation. International review of child neurology series
-
Baxter P. (Ed), MacKeith Press, London
-
Bower C. Neural tube defects and childhood brain tumors: the role of maternal vitamin supplementation. International review of child neurology series. In: Baxter P. (Ed). Vitamin responsive conditions in pediatric neurology (2001), MacKeith Press, London 13-21
-
(2001)
Vitamin responsive conditions in pediatric neurology
, pp. 13-21
-
-
Bower, C.1
-
57
-
-
0346727340
-
Folic acid and the prevention of neural tube defects
-
Wald N.J. Folic acid and the prevention of neural tube defects. N Engl J Med 350 (2004) 101-103
-
(2004)
N Engl J Med
, vol.350
, pp. 101-103
-
-
Wald, N.J.1
-
58
-
-
2942752383
-
Reduced-folate carrier (RFC) is expressed in placenta and yolk sac, as well as in cells of the developing forebrain, hindbrain, neural tube, craniofacial region, eye, limb buds and heart
-
Maddox D.M., Manlapat A., Roon P., Prasad P., Ganapathy V., and Smith S.B. Reduced-folate carrier (RFC) is expressed in placenta and yolk sac, as well as in cells of the developing forebrain, hindbrain, neural tube, craniofacial region, eye, limb buds and heart. BMC Dev Biol 29 (2003) 1-8
-
(2003)
BMC Dev Biol
, vol.29
, pp. 1-8
-
-
Maddox, D.M.1
Manlapat, A.2
Roon, P.3
Prasad, P.4
Ganapathy, V.5
Smith, S.B.6
-
59
-
-
0028048398
-
Selective expression of the high-affinity isoform of the FR (folate receptor) in the human placental syncytiotrophoblast and choriocarcinoma cells
-
Prasad P.D., Ramamoorthy S., Moe A.J., Smith C.H., Leibach F.H., and Ganapathy V. Selective expression of the high-affinity isoform of the FR (folate receptor) in the human placental syncytiotrophoblast and choriocarcinoma cells. Biochim Biophys Acta 1223 (1994) 71-75
-
(1994)
Biochim Biophys Acta
, vol.1223
, pp. 71-75
-
-
Prasad, P.D.1
Ramamoorthy, S.2
Moe, A.J.3
Smith, C.H.4
Leibach, F.H.5
Ganapathy, V.6
-
60
-
-
0034722837
-
Folate pathway gene alterations in patients with neural tube defects
-
De Marco P., Moroni A., Merello E., et al. Folate pathway gene alterations in patients with neural tube defects. Am J Med Genet 95 (2000) 216-223
-
(2000)
Am J Med Genet
, vol.95
, pp. 216-223
-
-
De Marco, P.1
Moroni, A.2
Merello, E.3
-
61
-
-
0347988053
-
Autoantibodies against folate receptors in women with a pregnancy complicated by a neural tube defect
-
Rothenberg S.P., da Costa M.P., Sequeira J.M., et al. Autoantibodies against folate receptors in women with a pregnancy complicated by a neural tube defect. N Engl J Med 350 (2004) 134-142
-
(2004)
N Engl J Med
, vol.350
, pp. 134-142
-
-
Rothenberg, S.P.1
da Costa, M.P.2
Sequeira, J.M.3
-
62
-
-
0033695413
-
Genetic basis of susceptibility to environmentally induced neural tube defects
-
Finnell R.H., Gelineau-van Waes J., Bennett G.D., et al. Genetic basis of susceptibility to environmentally induced neural tube defects. Ann NY Acad Sci 919 (2000) 216-277
-
(2000)
Ann NY Acad Sci
, vol.919
, pp. 216-277
-
-
Finnell, R.H.1
Gelineau-van Waes, J.2
Bennett, G.D.3
-
63
-
-
0029849703
-
Decreased methylene tetrahydrofolate reductase activity due to the 677C2.T mutation in families with spina bifida offspring
-
van der Put N.M.J., van den Heuvel L.P., Steegers-Theunissen R.P.M., et al. Decreased methylene tetrahydrofolate reductase activity due to the 677C2.T mutation in families with spina bifida offspring. J Mol Med 74 (1998) 691-694
-
(1998)
J Mol Med
, vol.74
, pp. 691-694
-
-
van der Put, N.M.J.1
van den Heuvel, L.P.2
Steegers-Theunissen, R.P.M.3
-
64
-
-
0034190659
-
5-10Methylentetrahydrofolate reductase variants and congenital anomalies: A HuGE review
-
Botto L.D., and Yang Q. 5-10Methylentetrahydrofolate reductase variants and congenital anomalies: A HuGE review. Am J Epidemiol 151 (2000) 862-877
-
(2000)
Am J Epidemiol
, vol.151
, pp. 862-877
-
-
Botto, L.D.1
Yang, Q.2
-
65
-
-
0037369905
-
Effect of the methylenetetrahydrofolate reductase 677C3T mutation on the relations among folate intake and plasma folate and homocysteine concentrations in a general population sample
-
de Bree A., Verschuren W.M., Bjorke-Monsen A.L., et al. Effect of the methylenetetrahydrofolate reductase 677C3T mutation on the relations among folate intake and plasma folate and homocysteine concentrations in a general population sample. Am J Clin Nutr 77 (2003) 687-693
-
(2003)
Am J Clin Nutr
, vol.77
, pp. 687-693
-
-
de Bree, A.1
Verschuren, W.M.2
Bjorke-Monsen, A.L.3
-
66
-
-
0030955502
-
Thermolabile variant of 5,10-methylenetetrahydrofolate reductase associated with low red-cell folates: Implications for folate intake recommendations
-
Molloy A.M., Daly S., Mills J.L., et al. Thermolabile variant of 5,10-methylenetetrahydrofolate reductase associated with low red-cell folates: Implications for folate intake recommendations. Lancet 349 (1997) 1591-1593
-
(1997)
Lancet
, vol.349
, pp. 1591-1593
-
-
Molloy, A.M.1
Daly, S.2
Mills, J.L.3
-
67
-
-
0032718084
-
Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene
-
Dean J., Moore J., Osborne A., Howe J., and Turnpenny P.D. Fetal anticonvulsant syndrome and mutation in the maternal MTHFR gene. Clin Genet 56 (1999) 216-220
-
(1999)
Clin Genet
, vol.56
, pp. 216-220
-
-
Dean, J.1
Moore, J.2
Osborne, A.3
Howe, J.4
Turnpenny, P.D.5
-
68
-
-
0037974481
-
Pharmacology of neural tube defects
-
Pippenger C.E. Pharmacology of neural tube defects. Epilepsia 44 (2003) 24-32
-
(2003)
Epilepsia
, vol.44
, pp. 24-32
-
-
Pippenger, C.E.1
-
69
-
-
0030891977
-
Mechanism for reduction of serum folate by antiepileptic drugs during prolonged therapy
-
Kishi T., Fujita N., Eguchi T., and Ueda K. Mechanism for reduction of serum folate by antiepileptic drugs during prolonged therapy. J Neurol Sci 145 (1997) 109-112
-
(1997)
J Neurol Sci
, vol.145
, pp. 109-112
-
-
Kishi, T.1
Fujita, N.2
Eguchi, T.3
Ueda, K.4
-
70
-
-
0019943881
-
Interactions between folates and carbamazepine or valproate in the rat
-
Smith D.B., and Carl G.F. Interactions between folates and carbamazepine or valproate in the rat. Neurology 32 (1982) 965-969
-
(1982)
Neurology
, vol.32
, pp. 965-969
-
-
Smith, D.B.1
Carl, G.F.2
-
71
-
-
0033780909
-
The unnecessary epidemic of folic acid-preventable spina bifida and anencephaly
-
Brent L.B., Oakley G.P., and Mattison D.R. The unnecessary epidemic of folic acid-preventable spina bifida and anencephaly. Pediatrics 106 (2000) 825-827
-
(2000)
Pediatrics
, vol.106
, pp. 825-827
-
-
Brent, L.B.1
Oakley, G.P.2
Mattison, D.R.3
-
72
-
-
0032815311
-
Folic acid for the prevention of neural tube defects
-
American Academy of Pediatrics, Committee on Genetics
-
American Academy of Pediatrics, Committee on Genetics. Folic acid for the prevention of neural tube defects. Pediatrics 104 (1999) 325-327
-
(1999)
Pediatrics
, vol.104
, pp. 325-327
-
-
-
73
-
-
29144460127
-
A folate-dependent metabolite in amniotic fluid from pregnancies with normal or trisomy 21 chromosomes
-
Baggot P.J., Eliseo A.J., Kalamarides J.A., and Shoemaker J.D. A folate-dependent metabolite in amniotic fluid from pregnancies with normal or trisomy 21 chromosomes. Fetal Diagn Ther 21 (2006) 148-152
-
(2006)
Fetal Diagn Ther
, vol.21
, pp. 148-152
-
-
Baggot, P.J.1
Eliseo, A.J.2
Kalamarides, J.A.3
Shoemaker, J.D.4
-
74
-
-
0033846999
-
Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome
-
Hobbs C.A., Sherman S.L., Yi P., et al. Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet 67 (2000) 623-630
-
(2000)
Am J Hum Genet
, vol.67
, pp. 623-630
-
-
Hobbs, C.A.1
Sherman, S.L.2
Yi, P.3
-
75
-
-
0032845227
-
Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase (MTHFR) gene may be maternal risk factors for Down syndrome
-
James S.J., Pogribna M., Pogribny I.P., et al. Abnormal folate metabolism and mutation in the methylenetetrahydrofolate reductase (MTHFR) gene may be maternal risk factors for Down syndrome. Am J Clin Nutr 70 (1999) 495-501
-
(1999)
Am J Clin Nutr
, vol.70
, pp. 495-501
-
-
James, S.J.1
Pogribna, M.2
Pogribny, I.P.3
-
77
-
-
0042194787
-
Methionine synthase (MTR) 2756 (A-G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevate homocystinemia are three risk factors for having a child with Down syndrome
-
Bosco P., Gueant-Rodri{dotless}guez R.M., Anello G., et al. Methionine synthase (MTR) 2756 (A-G) polymorphism, double heterozygosity methionine synthase 2756 AG/methionine synthase reductase (MTRR) 66 AG, and elevate homocystinemia are three risk factors for having a child with Down syndrome. Am J Med Genet 121A (2003) 219-224
-
(2003)
Am J Med Genet
, vol.121 A
, pp. 219-224
-
-
Bosco, P.1
Gueant-Rodriguez, R.M.2
Anello, G.3
-
78
-
-
33646449190
-
MTHFR C677 and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers
-
Singh R., Kumar M., and Raman P. MTHFR C677 and A1298C polymorphisms are risk factors for Down's syndrome in Indian mothers. J Hum Genet 51 (2006) 278-283
-
(2006)
J Hum Genet
, vol.51
, pp. 278-283
-
-
Singh, R.1
Kumar, M.2
Raman, P.3
-
79
-
-
0034969415
-
Homocysteine metabolism in children with Down syndrome: In vitro modulation
-
Pogribna M., Melnyk S., Pogribny I., Chango A., Yi P., and James S.J. Homocysteine metabolism in children with Down syndrome: In vitro modulation. Am J Hum Genet 69 (2001) 88-95
-
(2001)
Am J Hum Genet
, vol.69
, pp. 88-95
-
-
Pogribna, M.1
Melnyk, S.2
Pogribny, I.3
Chango, A.4
Yi, P.5
James, S.J.6
-
80
-
-
33646119427
-
Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?
-
Marti{dotless}nez-Frias M.L., Perez B., Lourdes R., et al. Maternal polymorphisms 677C-T and 1298A-C of MTHFR, and 66A-G MTRR genes: Is there any relationship between polymorphisms of the folate pathway, maternal homocysteine levels, and the risk for having a child with Down syndrome?. Am J Med Genet 140 (2006) 987-997
-
(2006)
Am J Med Genet
, vol.140
, pp. 987-997
-
-
Martinez-Frias, M.L.1
Perez, B.2
Lourdes, R.3
-
81
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk A.J., Pieretti M., and Sutcliffe J.S. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 5 (1991) 905-914
-
(1991)
Cell
, vol.5
, pp. 905-914
-
-
Verkerk, A.J.1
Pieretti, M.2
Sutcliffe, J.S.3
-
82
-
-
36049040343
-
-
OMIM. 309548. Fragile site, folic acid type, rare, FRA(X) (q28); FRAXE, http://www.ncbi.nlm.nih.gov/entrez/dispomin.
-
-
-
-
83
-
-
0027449978
-
The identification of a third fragile site, FRAXF, in Xq27-q28 distal to both FRAXA and FRAXE
-
Hirst M.C., Barnicoat A., Flynn G., et al. The identification of a third fragile site, FRAXF, in Xq27-q28 distal to both FRAXA and FRAXE. Hum Mol Genet 2 (1993) 197-200
-
(1993)
Hum Mol Genet
, vol.2
, pp. 197-200
-
-
Hirst, M.C.1
Barnicoat, A.2
Flynn, G.3
-
86
-
-
0018743659
-
Persistence of neutrophil hypersegmentation during recovery from megaloblastic granulopoiesis
-
Nath B.J., and Lindebaum J. Persistence of neutrophil hypersegmentation during recovery from megaloblastic granulopoiesis. Ann Intern Med 90 (1979) 757-760
-
(1979)
Ann Intern Med
, vol.90
, pp. 757-760
-
-
Nath, B.J.1
Lindebaum, J.2
-
87
-
-
0032937407
-
Modern clinical testing strategies in cobalamin and folate deficiency
-
Zittoun J., and Zittoun R. Modern clinical testing strategies in cobalamin and folate deficiency. Semin Hematol 36 (1999) 35-46
-
(1999)
Semin Hematol
, vol.36
, pp. 35-46
-
-
Zittoun, J.1
Zittoun, R.2
-
88
-
-
0019378646
-
Therapy of congenital folate malabsorption
-
Poncz M., Colman N., and Herbert V. Therapy of congenital folate malabsorption. Pediatrics 98 (1981) 76-79
-
(1981)
Pediatrics
, vol.98
, pp. 76-79
-
-
Poncz, M.1
Colman, N.2
Herbert, V.3
-
89
-
-
0042347998
-
Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency
-
Tonetti C., Sauduboray J.M., Echenne B., Landrieu P., Giraudier S., and Zittoun J. Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency. Eur J Pediatr 162 (2003) 466-475
-
(2003)
Eur J Pediatr
, vol.162
, pp. 466-475
-
-
Tonetti, C.1
Sauduboray, J.M.2
Echenne, B.3
Landrieu, P.4
Giraudier, S.5
Zittoun, J.6
-
90
-
-
0034709294
-
Methylenetetrahydrofolate reductase deficiency in four siblings: A clinical, biochemical, and molecular study of the family
-
Burtscher A., Bories D., Tulliez M., and Zittoun J. Methylenetetrahydrofolate reductase deficiency in four siblings: A clinical, biochemical, and molecular study of the family. Am J Med Genet 91 (2000) 363-367
-
(2000)
Am J Med Genet
, vol.91
, pp. 363-367
-
-
Burtscher, A.1
Bories, D.2
Tulliez, M.3
Zittoun, J.4
-
91
-
-
0031779446
-
Remethylation defects: Guidelines for clinical diagnosis and treatment
-
Ogier de Baulny H., Gerard M., Saudubray J.M., and Zittoun J. Remethylation defects: Guidelines for clinical diagnosis and treatment. Eur J Pediatr 157 Suppl. (1998) S77-S83
-
(1998)
Eur J Pediatr
, vol.157
, Issue.SUPPL
-
-
Ogier de Baulny, H.1
Gerard, M.2
Saudubray, J.M.3
Zittoun, J.4
-
92
-
-
0027536090
-
Symptomatic and asymptomatic methylene-tetrahydrofolate reductase deficiency in two adult brothers
-
Haworth J.C., Dilling L.A., and Surtees R.A. Symptomatic and asymptomatic methylene-tetrahydrofolate reductase deficiency in two adult brothers. Am J Med Genet 45 (1993) 572-576
-
(1993)
Am J Med Genet
, vol.45
, pp. 572-576
-
-
Haworth, J.C.1
Dilling, L.A.2
Surtees, R.A.3
-
93
-
-
0028236161
-
Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult
-
Pasquier F., Lebert F., and Petit H. Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult. J Neurol Neurosurg Psychiatry 57 (1994) 765-766
-
(1994)
J Neurol Neurosurg Psychiatry
, vol.57
, pp. 765-766
-
-
Pasquier, F.1
Lebert, F.2
Petit, H.3
-
94
-
-
0024359963
-
Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency
-
Holme E., Kjellman B., and Ronge E. Betaine for treatment of homocystinuria caused by methylenetetrahydrofolate reductase deficiency. Arch Dis Child 64 (1989) 1061-1064
-
(1989)
Arch Dis Child
, vol.64
, pp. 1061-1064
-
-
Holme, E.1
Kjellman, B.2
Ronge, E.3
-
95
-
-
0029865546
-
Long term treatment with betaine in methylenetetrahydrofolate reductase deficiency
-
Ronge E., and Kjellman B. Long term treatment with betaine in methylenetetrahydrofolate reductase deficiency. Arch Dis Child 74 (1996) 239-241
-
(1996)
Arch Dis Child
, vol.74
, pp. 239-241
-
-
Ronge, E.1
Kjellman, B.2
|