[1]
Perry D.J.: Hyperhomocysteinaemia. Baillieres Best Pract Res Clin
Haematol 1999; 12: 451–477.
[2]
Shinawi M.: Hyperhomocysteinemia and cobalamin disorders. Mol
Genet Metab 2007; 90: 113–121.
[3]
Levasseur R.: Bone tissue and hyperhomocysteinemia. Joint Bone Spine
2009; 76: 234–240.
[4]
Bjorke Monsen A.L., Ueland P.M.: Homocysteine and methylmalonic
acid in diagnosis and risk assessment from infancy to adolescence. Am
J Clin Nutr 2003; 78: 7–21.
[5]
Dorszewska J., Winczewska-Wiktor A., Śnieżawska A., et al.:
Homocysteine and asymmetric dimethylarginine (ADMA) in epilepsy.
Przegl Lek 2009; 66: 448–452.
[6]
Osganian S., Stampfer M., Spiegelman D., et al.: Distribution of and
factors associated with serum homocysteine levels in children: Child
and Adolescent Trial for Cardiovascular Health. JAMA 1999; 281: 1189–
1196.
[7]
Ueland M., Refsum H., Beresford S. A.A., et al.: The controversy over
homocysteine and cardiovascular risk. Am J Clin Nutr 2000; 72: 324–
332.
[8]
Welch G.N., Loscalzo J.: Homocysteine and atherothrombosis. N Engl J
Med 1998; 338:1042–1050.
[9]
Vilaseca M. A., Moyano D., Ferrer I., et al.: Total homocysteine in
pediatric patients. Clin Chem 1997; 43: 690–692.
[10]
Refsum H., Smith A. D., Ueland P. M., et al.: Facts and recommendations
about total homocysteine determinations: an expert opinion. Clin Chem
2004; 50: 3–32.
[11]
Kang S.S., Wong P.W., Malinow M.R.: Hyperhomocyst(e)inemia as a risk
factor for occlusive vascular disease. Annu Rev Nutr 1992; 12: 279–298.
[12]
Mudd S. H., Finkelstein J. D., Refsum H., et al.: Homocysteine and its
disulfide derivatives: a suggested consensus terminology. Arterioscler
Thromb Vasc Biol 2000; 20: 1704–1706.
[13]
Linnebank M., Linnebank M, Homberger A, et al.: High prevalence of the
I278T mutation of the human cystathionine beta-synthase detected by a
novel screening application. Thromb Haemost 2001; 85: 986–988.
[14]
Qureshi G. A., Baig S., Sarwar M., et al.: Neurotoxicity, oxidative stress
and cerebrovascular disorders. Neurotoxicology 2004; 25: 121–138.
[15]
Loureiro S. O., Heimfarth L., Pelaez P. de L., et al.: Homocysteine activates
calcium-mediated cell signaling mechanisms targeting the cytoskeleton
in rat hippocampus. Int J Dev Neurosci 2008; 26: 447–455.
[16]
Apeland T., Frøyland E. S., Kristensen O., et al.: Drug-induced pertubation
of the aminothiol redox-status in patients with epilepsy: improvement by
B-vitamins. Epilepsy Res 2008; 82: 1–6.
[17]
Rosche J., Uhlmann C., Froscher W.: Low serum folate levels as a
risk factor for depressive mood in patients with chronic epilepsy. J
Neuropsychiatry Clin Neurosci 2003; 15: 64–66.
[18]
Adler Nevo G., Meged S., Sela B. A., et al.: Homocysteine levels in
adolescent schizophrenia patients. Eur Neuropsychopharmacol 2006;
16: 588–591.
[19]
Kaluzna-Czaplinska J., Michalska M., Rynkowski J.: Vitamin
supplementation reduces the level of homocysteine in the urine of
autistic children. Nutr Res 2011; 31: 874.
[20]
Duan W., Ladenheim B., Cutler R. G., et al.: Dietary folate deficiency and
elevated homocysteine levels endanger dopaminergic neurons in models
of Parkinson’s disease. J Neurochem 2002; 80: 101–110.
[21]
Williams H.M., Lippok H., Doherty G.H.: Nitric oxide and peroxynitrite
signalling triggers homocysteine-mediated apoptosis in trigeminal
sensory neurons in vitro. Neurosci Res 2008; 60: 380–388.
[22]
Thambyrajah J., Townend J.N.: Homocysteine and atherothrombosismechanisms
for injury. Eur Heart J 2000; 21: 967–974.
[23]
Topal G., Brunet A., Millanvoye E., et al.: Homocysteine induces
oxidative stress by uncoupling of NO synthase activity through reduction
of tetrahydrobiopterin. Free Radic Biol Med 2004; 36: 1532–1541.
[24]
Herrmann M., Taban-Shomal O., Hubner U., et al.: A review of
homocysteine and heart failure. Eur J Heart Fail 2006; 8: 571–576.
[25]
Sachdev P.S.: Homocysteine and brain atrophy. Prog
Neuropsychopharmacol Biol Psychiatry 2005; 29: 1152–1161.
[26]
Kurul S., Unalp A., Yis U.: Homocysteine levels in epileptic children
receiving antiepileptic drugs. J Child Neurol 2007; 22: 1389–1392.
[27]
Vurucu S., Demirkaya E., Kul M., et al.: Evaluation of the relationship
between C677T variants of methylenetetrahydrofolate reductase gene
and hyperhomocysteinemia in children receiving antiepileptic drug
therapy. Prog Neuropsychopharmacol Biol Psychiatry 2008; 32: 844–
848.
[28]
Tamura T., Aiso K., Johnston KE., et al.: Homocysteine, folate,
vitamin B-12 and vitamin B-6 in patients receiving antiepileptic drug
monotherapy. Epilepsy Res 2000; 40: 7–15.
[29]
Verrotti A., Pascarella R., Trotta D., et al.: Hyperhomocysteinemia in
children treated with sodium valproate and carbamazepine. Epilepsy Res
2000; 41: 253–257.
[30]
Vilaseca MA., Monros E., Artuch R., et al.: Anti-epileptic drug treatment
in children: hyperhomocysteinaemia, B-vitamins and the 677C-->T
mutation of the methylenetetrahydrofolate reductase gene. Eur J
Paediatr Neurol 2000; 4: 269–277.
[31]
Tan TY., Lu CH., Chuang HY., et al.: Long-term antiepileptic drug therapy
contributes to the acceleration of atherosclerosis. Epilepsia 2009; 50:
1579–1586.
[32]
Tumer L., Serdaroglu A., Hasanoglu A., et al.: Plasma homocysteine and
lipoprotein (a) levels as risk factors for atherosclerotic vascular disease
in epileptic children taking anticonvulsants. Acta Paediatr 2002; 91:
923–926.
[33]
Karabiber H., Sonmezgoz E., Ozerol E., et al.: Effects of valproate and
carbamazepine on serum levels of homocysteine, vitamin B12, and folic
acid. Brain Dev 2003; 25: 113–115.
[34]
Attilakos A., Papakonstantinou E., Schulpis K., et al.: Early effect of
sodium valproate and carbamazepine monotherapy on homocysteine
metabolism in children with epilepsy. Epilepsy Res 2006; 71: 229–232.
[35]
Belcastro V., Striano P., Gorgone G., et al.: Hyperhomocysteinemia in
epileptic patients on new antiepileptic drugs. Epilepsia 2010; 51: 274–
279.
[36]
Unal O., Deda G., Teber S., et al.: Thrombophilic risk factors in epileptic
children treated with valproic Acid. Pediatr Neurol 2009; 40: 102–106.
[37]
Gidal B. E., Tamura T., Hammer A., et al.: Blood homocysteine, folate
and vitamin B-12 concentrations in patients with epilepsy receiving
lamotrigine or sodium valproate for initial monotherapy. Epilepsy Res
2005; 64: 161–166.
[38]
Ozdemir O., Yakut A., Dinleyici E. C., et al.: Serum asymmetric
dimethylarginine (ADMA), homocysteine, vitamin B(12), folate levels,
and lipid profiles in epileptic children treated with valproic acid. Eur J
Pediatr 2011; 170: 873–877.
[39]
Cheng L.S., Prasad A.N., Rieder M.J.: Relationship between antiepileptic
drugs and biological markers affecting long-term cardiovascular function
in children and adolescents. Can J Clin Pharmacol 2010; 17: 5–46.
[40]
Huemer M., Ausserer B., Graninger G., et al.: Hyperhomocysteinemia
in children treated with antiepileptic drugs is normalized by folic acid
supplementation. Epilepsia 2005; 46: 1677–1683.
[41]
Asadi-Pooya A. A., Ghetmiri E.: Folic acid supplementation reduces
the development of some blood cell abnormalities in children receiving
carbamazepine. Epilepsy Behav 2006; 8: 228–231.
[42]
Apeland T., Mansoor M. A., Pentieva K., et al.: The effect of B-vitamins
on hyperhomocysteinemia in patients on antiepileptic drugs. Epilepsy
Res 2002; 51: 237–247.
[43]
Reynolds E.: Vitamin B12, folic acid, and the nervous system. Lancet
Neurol 2006; 5: 949–960.
[44]
Belcastro V., Striano P.: Vitamin B12, folate and hyperhomocysteinemia
in patients with epilepsy. Ann Neurol 2011; 69: 1067–1068.
[45]
Varela-Moreiras G., Murphy M. M., Scott J. M.: Cobalamin, folic acid,
and homocysteine. Nutr Rev 2009; 67: 69–72.
[46]
Hozyasz K.: Wybrane choroby metaboliczne u dzieci, ed. B. Cabalska.
Wydawnictwo Lekarskie, Warszawa 2002; 134–170.
[47]
Saxena A. K., Gupta J., Pandey S., et al.: Prevalence of cystathionine
beta synthase gene mutation 852Ins68 as a possible risk for neural tube
defects in eastern India. Genet Mol Res 2011; 10: 2424–2429.
[48]
Padmanabhan R.: Etiology, pathogenesis and prevention of neural tube
defects. Congenit Anom (Kyoto) 2006; 46: 55–67.
[49]
Wisniewska K., Wysocki J.: Primary prevention of neural tube
defects by means folic acid supplementation – a summary of current
recommendations in some European countries. Standardy Medyczne
2011; 8: 53–59.
[50]
Nye J.S., Balkin N., Lucas H., et al.: Myelomeningocele and Waardenburg
syndrome (type 3) in patients with interstitial deletions of 2q35 and the
PAX3 gene: possible digenic inheritance of a neural tube defect. Am J
Med Genet 1998; 75: 401–408.
[51]
Ahdab-Barmada M., Claassen D.: A distinctive triad of malformations
of the central nervous system in the Meckel-Gruber syndrome. J
Neuropathol Exp Neurol 1990; 49: 610–620.
[52]
Papp C., Adam Z., Toth-Pal E., et al.: Risk of recurrence of craniospinal
anomalies. J Matern Fetal Med 1997; 6: 53–57.
[53]
Sebold C.D., Melvin E.C., Siegel D., et al.: Recurrence risks for neural
tube defects in siblings of patients with lipomyelomeningocele. Genet
Med 2005; 7: 64–67.
[54]
Zlotogora J.: Major gene is responsible for anencephaly among Iranian
Jews. Am J Med Genet 1995; 56: 87–89.
[55]
Frey L., Hauser W.A.: Epidemiology of neural tube defects. Epilepsia
2003; 44: 4–13.
[56]
Volcik K.A., Blanton S.H., Kruzel M.C., et al.: Testing for genetic
associations in a spina bifida population: analysis of the HOX gene
family and human candidate gene regions implicated by mouse models
of neural tube defects. Am J Med Genet 2002; 110: 203–207.
[57]
Dietl J.: Maternal obesity and complications during pregnancy. J Perinat
Med 2005; 33: 100–105.
[58]
Ray J.G., Vermeulen M.J., Meier C., et al.: Risk of congenital anomalies
detected during antenatal serum screening in women with pregestational
diabetes. QJM 2004; 97: 651–653.
[59]
Shaw G.M., Nelson V., Olshan A.F.: Paternal occupational group and risk
of offspring with neural tube defects. Paediatr Perinat Epidemiol 2002;
16: 328–333.
[60]
Shepard T.H., Brent R.L., Friedman J.M., et al.: Update on new
developments in the study of human teratogens. Teratology 2002; 65:
153–161.
[61]
O‘Leary V.B., Mills J.L., Pangilinan F., et al.: Analysis of methionine
synthase reductase polymorphisms for neural tube defects risk
association. Mol Genet Metab 2005; 85: 220–227.
[62]
Wong W.Y., Merkus H.M., Thomas C.M., et al.: Effects of folic acid
and zinc sulfate on male factor subfertility: a double-blind, randomized,
placebo-controlled trial. Fertil Steril 2002; 77: 491–498.
[63]
Smithells R.W.: Epidemiology of malformations: inspiration and
perspiration. Teratology 1974; 10: 217–220.
[64]
Blom H.J.: Folic acid, methylation and neural tube closure in humans.
Birth Defects Res A Clin Mol Teratol 2009; 85: 295–302.
[65]
Wald N., Sneddon J., Densem J., et al.: Prevention of neural tube
defects: results of the Medical Research Council Vitamin Study. MRC
Vitamin Study Research Group. Lancet 1991; 338: 131–137.
[66]
Blom H.J., Smulders Y.: Overview of homocysteine and folate
metabolism. With special references to cardiovascular disease and
neural tube defects. J Inherit Metab 2011; 34: 75–81.
[67]
Maddox D.M., Manlapat A., Roon P., et al.: 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 2003; 3: 6.
[68]
Zhao R., Russell R. G., Wang Y., et al.: Rescue of embryonic lethality
in reduced folate carrier-deficient mice by maternal folic acid
supplementation reveals early neonatal failure of hematopoietic organs.
J Biol Chem 2001; 276: 10224–10228.
[69]
Piedrahita J.A., Oetama B., Bennett G.D., et al.: Mice lacking the
folic acid-binding protein Folbp1 are defective in early embryonic
development. Nat Genet 1999; 23: 228–232.
[70]
Saitsu H., Ishibashi M., Nakano H., et al.: Spatial and temporal
expression of folate-binding protein 1 (Fbp1) is closely associated with
anterior neural tube closure in mice. Dev Dyn 2003; 226: 112–117.
[71]
Houcher B., Bourouba R., Djabi F., et al.: Polymorphisms of
5,10-methylenetetrahydrofolate reductase and cystathionine betasynthase
genes as a risk factor for neural tube defects in Setif, Algeria.
Pediatr Neurosurg 2009; 45: 472–477.
[72]
Erdogan M.O., Yildiz S.H., Solak M., et al.: C677T polymorphism of the
methylenetetrahydrofolate reductase gene does not affect folic acid,
vitamin B12, and homocysteine serum levels in Turkish children with
neural tube defects. Genet Mol Res 2010; 9: 1197–1203.
[73]
De Marco P., Calevo M.G., Moroni A., et al.: Study of MTHFR and MS
polymorphisms as risk factors for NTD in the Italian population. J Hum
Genet 2002; 47: 319–324.
[74]
Richter B., Stegmann K., Roper B., et al.: Interaction of folate and
homocysteine pathway genotypes evaluated in susceptibility to neural
tube defects (NTD) in a German population. J Hum Genet 2001; 46:
105–109.
[75]
Kirke P.N., Molloy A.M., Daly L.E., et al.: Maternal plasma folate and
vitamin B12 are independent risk factors for neural tube defects. Q J
Med 1993; 86: 703–708.
[76]
Relton C.L., Wilding C.S., Pearce M.S., et al.: Gene-gene interaction in
folate-related genes and risk of neural tube defects in a UK population. J
Med Genet 2004; 41: 256–260.
[77]
Brody L.C., Baker P.J., Chines P.S., et al.: Methionine synthase: highresolution
mapping of the human gene and evaluation as a candidate
locus for neural tube defects. Mol Genet Metab 1999; 67: 324–333.
[78]
Shinawi M.: Hyperhomocysteinemia and cobalamin disorders. Mol
Genet Metab 2007; 90: 113–121.
[79]
Cabalska B.: Wybrane choroby metaboliczne u dzieci. Wydawnictwo
Lekarskie, Warszawa 2002.
[80]
Bolann B.J., Solli J.D., Schneede J., et al.: Evaluation of indicators
of cobalamin deficiency defined as cobalamin-induced reduction in
increased serum methylmalonic acid. Clin Chem 2000; 46: 1744–1750.
[81]
Holleland G., Schneede J., Ueland P.M., et al.: Cobalamin deficiency in
general practice. Assessment of the diagnostic utility and cost-benefit
analysis of methylmalonic acid determination in relation to current
diagnostic strategies. Clin Chem 1999; 45: 189–198.
[82]
Testai F.D., Gorelick P.B.: Inherited metabolic disorders and stroke part
1: Fabry disease and mitochondrial myopathy, encephalopathy, lactic
acidosis, and strokelike episodes. Arch Neurol 2010; 67: 19–24.
[83]
Kraus J.P., Janosik M., Kozich V., et al.: Cystathionine beta-synthase
mutations in homocystinuria. Hum Mutat 1999; 13: 362–375.
[84]
Levasseur R.: Bone tissue and hyperhomocysteinemia. Joint Bone Spine
2009; 76: 234–240.
[85]
Yap S., Boers G.H., Wilcken B., et al.: Vascular outcome in patients with
homocystinuria due to cystathionine beta-synthase deficiency treated
chronically: a multicenter observational study. Arterioscler Thromb Vasc
Biol 2001; 21: 2080–2085.
[86]
Mudd S.H., Skovby F., Levy H.L., et al.: The natural history of
homocystinuria due to cystathionine beta-synthase deficiency. Am J
Hum Genet 1985; 37: 1–31.
[87]
Chiżyński K.: Hiperhomocysteinemia – ważny czynnik ryzyka choroby
niedokrwiennej serca. Polski Przegląd Kardiologiczny 2002; 4: 103–108.
Scholar Google
PubMed