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Items: 1 to 50 of 339

1.

Effect of BTD gene variants on in vitro biotinidase activity.

Borsatto T, Sperb-Ludwig F, Blom HJ, Schwartz IVD.

Mol Genet Metab. 2019 Aug;127(4):361-367. doi: 10.1016/j.ymgme.2019.07.006. Epub 2019 Jul 17.

PMID:
31337602
2.

Analysis of the Qatari R336C cystathionine β-synthase protein in mice.

Gupta S, Gallego-Villar L, Wang L, Lee HO, Nasrallah G, Al-Dewik N, Häberle J, Thöny B, Blom HJ, Ben-Omran T, Kruger WD.

J Inherit Metab Dis. 2019 Sep;42(5):831-838. doi: 10.1002/jimd.12140. Epub 2019 Jul 10.

PMID:
31240737
3.

Natural history, with clinical, biochemical, and molecular characterization of classical homocystinuria in the Qatari population.

Al-Dewik N, Ali A, Mahmoud Y, Shahbeck N, Ali R, Mahmoud L, Al-Mureikhi M, Al-Mesaifri F, Musa S, El-Akouri K, Almulla M, Al Saadi R, Nasrallah GK, Samara M, Abdoh G, Rifai HA, Häberle J, Thöny B, Kruger W, Blom HJ, Ben-Omran T.

J Inherit Metab Dis. 2019 Sep;42(5):818-830. doi: 10.1002/jimd.12099. Epub 2019 May 8.

PMID:
30968424
4.

Newborn screening for homocystinurias: Recent recommendations versus current practice.

Keller R, Chrastina P, Pavlíková M, Gouveia S, Ribes A, Kölker S, Blom HJ, Baumgartner MR, Bártl J, Dionisi-Vici C, Gleich F, Morris AA, Kožich V, Huemer M; and individual contributors of the European Network and Registry for Homocystinurias and Methylation Defects (E-HOD), Barić I, Ben-Omran T, Blasco-Alonso J, Bueno Delgado MA, Carducci C, Cassanello M, Cerone R, Couce ML, Crushell E, Delgado Pecellin C, Dulin E, Espada M, Ferino G, Fingerhut R, Garcia Jimenez I, Gonzalez Gallego I, González-Irazabal Y, Gramer G, Juan Fita MJ, Karg E, Klein J, Konstantopoulou V, la Marca G, Leão Teles E, Leuzzi V, Lilliu F, Lopez RM, Lund AM, Mayne P, Meavilla S, Moat SJ, Okun JG, Pasquini E, Pedron-Giner CC, Racz GZ, Ruiz Gomez MA, Vilarinho L, Yahyaoui R, Zerjav Tansek M, Zetterström RH, Zeyda M.

J Inherit Metab Dis. 2019 Jan;42(1):128-139. doi: 10.1002/jimd.12034.

PMID:
30740731
5.

Adenosine Kinase Deficiency: Report and Review.

Alhusani A, Obaid A, Blom HJ, Wedell A, Alfadhel M.

Neuropediatrics. 2019 Feb;50(1):46-50. doi: 10.1055/s-0038-1676053. Epub 2018 Nov 26.

PMID:
30477030
6.

In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.

Ismail HM, Krishnamoorthy N, Al-Dewik N, Zayed H, Mohamed NA, Giacomo VD, Gupta S, Häberle J, Thöny B, Blom HJ, Kruger WD, Ben-Omran T, Nasrallah GK.

Hum Mutat. 2019 Feb;40(2):230-240. doi: 10.1002/humu.23682. Epub 2018 Nov 23.

PMID:
30408270
7.

Cytokines levels in late-diagnosed Classical Homocystinuria patients.

Poloni S, Siebert M, Donis KC, Weber Hoss GR, Blom HJ, Schwartz IVD.

Mol Genet Metab Rep. 2018 Sep 28;17:43-44. doi: 10.1016/j.ymgmr.2018.09.003. eCollection 2018 Dec. No abstract available.

8.

Folinic Acid Increases Protein Arginine Methylation in Human Endothelial Cells.

Esse R, Teerlink T, Koolwijk P, Tavares de Almeida I, Blom HJ, Castro R.

Nutrients. 2018 Mar 24;10(4). pii: E404. doi: 10.3390/nu10040404.

9.

CBS mutations are good predictors for B6-responsiveness: A study based on the analysis of 35 Brazilian Classical Homocystinuria patients.

Poloni S, Sperb-Ludwig F, Borsatto T, Weber Hoss G, Doriqui MJR, Embiruçu EK, Boa-Sorte N, Marques C, Kim CA, Fischinger Moura de Souza C, Rocha H, Ribeiro M, Steiner CE, Moreno CA, Bernardi P, Valadares E, Artigalas O, Carvalho G, Wanderley HYC, Kugele J, Walter M, Gallego-Villar L, Blom HJ, Schwartz IVD.

Mol Genet Genomic Med. 2018 Mar;6(2):160-170. doi: 10.1002/mgg3.342. Epub 2018 Jan 20. Erratum in: Mol Genet Genomic Med. 2018 Sep;6(5):861.

10.

Multi-omic approach decodes paradoxes of the triple-negative breast cancer: lessons for predictive, preventive and personalised medicine.

Golubnitschaja O, Filep N, Yeghiazaryan K, Blom HJ, Hofmann-Apitius M, Kuhn W.

Amino Acids. 2018 Apr;50(3-4):383-395. doi: 10.1007/s00726-017-2524-0. Epub 2017 Dec 16.

PMID:
29249020
11.

Leptin concentrations and SCD-1 indices in classical homocystinuria: Evidence for the role of sulfur amino acids in the regulation of lipid metabolism.

Poloni S, Spritzer PM, Mendes RH, D'Almeida V, Castro K, Sperb-Ludwig F, Kugele J, Tucci S, Blom HJ, Schwartz IVD.

Clin Chim Acta. 2017 Oct;473:82-88. doi: 10.1016/j.cca.2017.08.005. Epub 2017 Aug 8.

PMID:
28801090
12.

Corrigendum: Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency.

Hannibal L, Lysne V, Bjørke-Monsen AL, Behringer S, Grünert SC, Spiekerkoetter U, Jacobsen DW, Blom HJ.

Front Mol Biosci. 2017 Aug 8;4:53. doi: 10.3389/fmolb.2017.00053. eCollection 2017.

13.

Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function.

Röeben B, Marquetand J, Bender B, Billing H, Haack TB, Sanchez-Albisua I, Schöls L, Blom HJ, Synofzik M.

Orphanet J Rare Dis. 2017 Aug 1;12(1):135. doi: 10.1186/s13023-017-0687-0.

14.

Paediatric reference values for total homocysteine, tryptophan, tyrosine and phenylalanine in blood spots.

Bergwerff CE, Luman M, Blom HJ, Oosterlaan J.

Scand J Clin Lab Invest. 2017 Oct;77(6):410-414. doi: 10.1080/00365513.2017.1334167. Epub 2017 Jul 5.

PMID:
28678543
15.

Cysteamine revisited: repair of arginine to cysteine mutations.

Gallego-Villar L, Hannibal L, Häberle J, Thöny B, Ben-Omran T, Nasrallah GK, Dewik AN, Kruger WD, Blom HJ.

J Inherit Metab Dis. 2017 Jul;40(4):555-567. doi: 10.1007/s10545-017-0060-4. Epub 2017 Jun 22. Review.

16.

Correction: Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.

Borsatto T, Sperb-Ludwig F, Lima SE, Carvalho MRS, Fonseca PAS, Camelo JS Jr, Ribeiro EM, de Medeiros PFV, Lourenço CM, de Souza CFM, Boy R, Félix TM, Bittar CM, Pinto LLC, Neto EC, Blom HJ, Schwartz IVD.

PLoS One. 2017 Jun 22;12(6):e0180463. doi: 10.1371/journal.pone.0180463. eCollection 2017.

17.

Homocysteine and disease: Causal associations or epiphenomenons?

Hannibal L, Blom HJ.

Mol Aspects Med. 2017 Feb;53:36-42. doi: 10.1016/j.mam.2016.11.003. Epub 2016 Nov 19. Review.

PMID:
27876556
18.

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

Morris AA, Kožich V, Santra S, Andria G, Ben-Omran TI, Chakrapani AB, Crushell E, Henderson MJ, Hochuli M, Huemer M, Janssen MC, Maillot F, Mayne PD, McNulty J, Morrison TM, Ogier H, O'Sullivan S, Pavlíková M, de Almeida IT, Terry A, Yap S, Blom HJ, Chapman KA.

J Inherit Metab Dis. 2017 Jan;40(1):49-74. doi: 10.1007/s10545-016-9979-0. Epub 2016 Oct 24. Review.

19.

Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders.

Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ.

J Inherit Metab Dis. 2017 Jan;40(1):5-20. doi: 10.1007/s10545-016-9972-7. Epub 2016 Sep 26. Review.

20.

Biomarkers and Algorithms for the Diagnosis of Vitamin B12 Deficiency.

Hannibal L, Lysne V, Bjørke-Monsen AL, Behringer S, Grünert SC, Spiekerkoetter U, Jacobsen DW, Blom HJ.

Front Mol Biosci. 2016 Jun 27;3:27. doi: 10.3389/fmolb.2016.00027. eCollection 2016. Review. Erratum in: Front Mol Biosci. 2017 Aug 08;4:53.

21.

Glycine N-Methyltransferase Deficiency: A Member of Dysmethylating Liver Disorders?

Barić I, Erdol S, Saglam H, Lovrić M, Belužić R, Vugrek O, Blom HJ, Fumić K.

JIMD Rep. 2017;31:101-106. doi: 10.1007/8904_2016_543. Epub 2016 May 21.

22.

MRI and (1)H-MRS in adenosine kinase deficiency.

Staufner C, Blom HJ, Dionisi-Vici C, Freisinger P, Makhseed N, Ballhausen D, Kölker S, Hoffmann GF, Harting I.

Neuroradiology. 2016 Jul;58(7):697-703. doi: 10.1007/s00234-016-1676-z. Epub 2016 Mar 18.

PMID:
26993811
23.

No Tryptophan, Tyrosine and Phenylalanine Abnormalities in Children with Attention-Deficit/Hyperactivity Disorder.

Bergwerff CE, Luman M, Blom HJ, Oosterlaan J.

PLoS One. 2016 Mar 3;11(3):e0151100. doi: 10.1371/journal.pone.0151100. eCollection 2016.

24.

Effect of vitamin B12 and folic acid supplementation on biomarkers of endothelial function and inflammation among elderly individuals with hyperhomocysteinemia.

van Dijk SC, Enneman AW, Swart KM, van Wijngaarden JP, Ham AC, de Jonge R, Blom HJ, Feskens EJ, Geleijnse JM, van Schoor NM, Dhonukshe-Rutten RA, de Jongh RT, Lips P, de Groot LC, Uitterlinden AG, van den Meiracker TH, Mattace-Raso FU, van der Velde N, Smulders YM.

Vasc Med. 2016 Apr;21(2):91-8. doi: 10.1177/1358863X15622281. Epub 2016 Jan 15.

PMID:
26774115
25.

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.

Staufner C, Lindner M, Dionisi-Vici C, Freisinger P, Dobbelaere D, Douillard C, Makhseed N, Straub BK, Kahrizi K, Ballhausen D, la Marca G, Kölker S, Haas D, Hoffmann GF, Grünert SC, Blom HJ.

J Inherit Metab Dis. 2016 Mar;39(2):273-83. doi: 10.1007/s10545-015-9904-y. Epub 2015 Dec 7.

PMID:
26642971
26.

S-adenosylhomocysteine induces inflammation through NFkB: A possible role for EZH2 in endothelial cell activation.

Barroso M, Kao D, Blom HJ, Tavares de Almeida I, Castro R, Loscalzo J, Handy DE.

Biochim Biophys Acta. 2016 Jan;1862(1):82-92. doi: 10.1016/j.bbadis.2015.10.019. Epub 2015 Oct 24.

27.

Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine β-synthase p.R336C.

Mendes MI, Smith DE, Vicente JB, Tavares De Almeida I, Ben-Omran T, Salomons GS, Rivera IA, Leandro P, Blom HJ.

Hum Mol Genet. 2015 Dec 20;24(25):7339-48. doi: 10.1093/hmg/ddv431. Epub 2015 Oct 12.

PMID:
26464485
28.

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes.

Chien YH, Abdenur JE, Baronio F, Bannick AA, Corrales F, Couce M, Donner MG, Ficicioglu C, Freehauf C, Frithiof D, Gotway G, Hirabayashi K, Hofstede F, Hoganson G, Hwu WL, James P, Kim S, Korman SH, Lachmann R, Levy H, Lindner M, Lykopoulou L, Mayatepek E, Muntau A, Okano Y, Raymond K, Rubio-Gozalbo E, Scholl-Bürgi S, Schulze A, Singh R, Stabler S, Stuy M, Thomas J, Wagner C, Wilson WG, Wortmann S, Yamamoto S, Pao M, Blom HJ.

Orphanet J Rare Dis. 2015 Aug 20;10:99. doi: 10.1186/s13023-015-0321-y. Review.

29.

Physical Fitness, Activity and Hand-Grip Strength Are Not Associated with Arterial Stiffness in Older Individuals.

van Dijk SC, Swart KM, Ham AC, Enneman AW, van Wijngaarden JP, Feskens EJ, Geleijnse JM, de Jongh RT, Blom HJ, Dhonukshe-Rutten RA, de Groot LC, van Schoor NM, Lips P, Uitterlinden AG, Mattace Raso FU, Smulders YM, van den Meiracker AH, van der Velde N.

J Nutr Health Aging. 2015 Aug;19(7):779-84. doi: 10.1007/s12603-015-0519-7.

PMID:
26193863
30.

High homocysteine induces betaine depletion.

Imbard A, Benoist JF, Esse R, Gupta S, Lebon S, de Vriese AS, de Baulny HO, Kruger W, Schiff M, Blom HJ.

Biosci Rep. 2015 Apr 28;35(4). pii: e00222. doi: 10.1042/BSR20150094.

31.

Effects of 2-year vitamin B12 and folic acid supplementation in hyperhomocysteinemic elderly on arterial stiffness and cardiovascular outcomes within the B-PROOF trial.

van Dijk SC, Enneman AW, Swart KM, van Wijngaarden JP, Ham AC, Brouwer-Brolsma EM, van der Zwaluw NL, Blom HJ, Feskens EJ, Geleijnse JM, van Schoor NM, Dhonukshe-Rutten RA, de Jongh RT, Lips P, de Groot LC, Uitterlinden AG, Smulders YM, van den Meiracker AH, Mattace Raso FU, van der Velde N.

J Hypertens. 2015 Sep;33(9):1897-906; discussion 1906. doi: 10.1097/HJH.0000000000000647.

PMID:
26147383
32.

Homocysteinemia After Hypertensive Pregnancy Disorders at Term.

Visser S, Hermes W, Blom HJ, Heijboer AC, Franx A, Van Pampus MG, Bloemenkamp KW, Koopmans C, Mol BW, De Groot CJ.

J Womens Health (Larchmt). 2015 Jun;24(6):524-9. doi: 10.1089/jwh.2015.5201.

PMID:
26070038
33.

Stearoyl-CoA Desaturase-1: Is It the Link between Sulfur Amino Acids and Lipid Metabolism?

Poloni S, Blom HJ, Schwartz IV.

Biology (Basel). 2015 Jun 3;4(2):383-96. doi: 10.3390/biology4020383. Review.

34.

In memoriam: S. Harvey Mudd.

Blom HJ, Stabler S, Wagner C.

Am J Med Genet A. 2015 May;167A(5):994-6. doi: 10.1002/ajmg.a.36904. Epub 2015 Mar 26. No abstract available.

PMID:
25820490
35.

Arterial stiffness is not associated with bone parameters in an elderly hyperhomocysteinemic population.

van Dijk SC, de Jongh RT, Enneman AW, Ham AC, Swart KM, van Wijngaarden JP, van der Zwaluw NL, Brouwer-Brolsma EM, van Schoor NM, Dhonukshe-Rutten RA, Lips P, de Groot CP, Smulders YM, Blom HJ, Feskens EJ, Geleijnse JM, van den Meiracker AH, Mattace Raso FU, Uitterlinden AG, Zillikens MC, van der Velde N.

J Bone Miner Metab. 2016 Jan;34(1):99-108. doi: 10.1007/s00774-015-0650-x. Epub 2015 Mar 25.

PMID:
25804313
36.

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Huemer M, Kožich V, Rinaldo P, Baumgartner MR, Merinero B, Pasquini E, Ribes A, Blom HJ.

J Inherit Metab Dis. 2015 Nov;38(6):1007-19. doi: 10.1007/s10545-015-9830-z. Epub 2015 Mar 12. Review.

37.

Insights into the regulatory domain of cystathionine Beta-synthase: characterization of six variant proteins.

Mendes MI, Santos AS, Smith DE, Lino PR, Colaço HG, de Almeida IT, Vicente JB, Salomons GS, Rivera I, Blom HJ, Leandro P.

Hum Mutat. 2014 Oct;35(10):1195-202. doi: 10.1002/humu.22616. Epub 2014 Jul 31.

PMID:
25044645
38.

Non-linear associations between serum 25-OH vitamin D and indices of arterial stiffness and arteriosclerosis in an older population.

van Dijk SC, Sohl E, Oudshoorn C, Enneman AW, Ham AC, Swart KM, van Wijngaarden JP, Brouwer-Brolsma EM, van der Zwaluw NL, Uitterlinden AG, de Groot LC, Dhonukshe-Rutten RA, Lips P, van Schoor NM, Blom HJ, Geleijnse JM, Feskens EJ, Smulders YM, Zillikens MC, de Jongh RT, van den Meiracker AH, Mattace Raso FU, van der Velde N.

Age Ageing. 2015 Jan;44(1):136-42. doi: 10.1093/ageing/afu095. Epub 2014 Jul 19.

PMID:
25038832
39.

Body composition in patients with classical homocystinuria: body mass relates to homocysteine and choline metabolism.

Poloni S, Leistner-Segal S, Bandeira IC, D'Almeida V, de Souza CF, Spritzer PM, Castro K, Tonon T, Nalin T, Imbard A, Blom HJ, Schwartz IV.

Gene. 2014 Aug 10;546(2):443-7. doi: 10.1016/j.gene.2014.05.015. Epub 2014 May 6.

40.

Inhibition of cellular methyltransferases promotes endothelial cell activation by suppressing glutathione peroxidase 1 protein expression.

Barroso M, Florindo C, Kalwa H, Silva Z, Turanov AA, Carlson BA, de Almeida IT, Blom HJ, Gladyshev VN, Hatfield DL, Michel T, Castro R, Loscalzo J, Handy DE.

J Biol Chem. 2014 May 30;289(22):15350-62. doi: 10.1074/jbc.M114.549782. Epub 2014 Apr 9.

41.

Cytosine DNA methylation is found in Drosophila melanogaster but absent in Saccharomyces cerevisiae, Schizosaccharomyces pombe, and other yeast species.

Capuano F, Mülleder M, Kok R, Blom HJ, Ralser M.

Anal Chem. 2014 Apr 15;86(8):3697-702. doi: 10.1021/ac500447w. Epub 2014 Mar 25.

42.

Protein arginine hypomethylation in a mouse model of cystathionine β-synthase deficiency.

Esse R, Imbard A, Florindo C, Gupta S, Quinlivan EP, Davids M, Teerlink T, Tavares de Almeida I, Kruger WD, Blom HJ, Castro R.

FASEB J. 2014 Jun;28(6):2686-95. doi: 10.1096/fj.13-246579. Epub 2014 Feb 14. Erratum in: FASEB J. 2015 Mar;29(3):1125.

43.

Homocysteine levels and treatment effect in the PROspective Study of Pravastatin in the Elderly at Risk.

Drewes YM, Poortvliet RK, Blom JW, de Ruijter W, Westendorp RG, Stott DJ, Blom HJ, Ford I, Sattar N, Wouter Jukema J, Assendelft WJ, de Craen AJ, Gussekloo J.

J Am Geriatr Soc. 2014 Feb;62(2):213-21. doi: 10.1111/jgs.12660. Epub 2014 Jan 21.

44.

Homocysteine levels are inversely associated with capillary density in men, not in premenopausal women.

Hornstra JM, Hoekstra T, Serné EH, Eringa EC, Wijnstok NJ, Blom HJ, Twisk JW, Smulders YM.

Eur J Clin Invest. 2014;44(3):333-40. doi: 10.1111/eci.12240.

PMID:
24422875
45.

Metabolic syndrome components are associated with DNA hypomethylation.

Luttmer R, Spijkerman AM, Kok RM, Jakobs C, Blom HJ, Serne EH, Dekker JM, Smulders YM.

Obes Res Clin Pract. 2013 Mar-Apr;7(2):e106-e115. doi: 10.1016/j.orcp.2012.06.001.

PMID:
24331772
46.

[Homocysteine levels: measure or not?].

Smulders YM, den Heijer M, Blom HJ.

Ned Tijdschr Geneeskd. 2013;157(44):A6265. Review. Dutch.

PMID:
24168846
47.

Neural tube defects, folic acid and methylation.

Imbard A, Benoist JF, Blom HJ.

Int J Environ Res Public Health. 2013 Sep 17;10(9):4352-89. doi: 10.3390/ijerph10094352. Review.

48.

Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patients.

Mendes MI, Colaço HG, Smith DE, Ramos RJ, Pop A, van Dooren SJ, Tavares de Almeida I, Kluijtmans LA, Janssen MC, Rivera I, Salomons GS, Leandro P, Blom HJ.

J Inherit Metab Dis. 2014 Mar;37(2):245-54. doi: 10.1007/s10545-013-9647-6. Epub 2013 Aug 23.

PMID:
23974653
49.

Folic acid supplementation does not reduce intracellular homocysteine, and may disturb intracellular one-carbon metabolism.

Smith DE, Hornstra JM, Kok RM, Blom HJ, Smulders YM.

Clin Chem Lab Med. 2013 Aug;51(8):1643-50. doi: 10.1515/cclm-2012-0694.

PMID:
23740686
50.

Global protein and histone arginine methylation are affected in a tissue-specific manner in a rat model of diet-induced hyperhomocysteinemia.

Esse R, Florindo C, Imbard A, Rocha MS, de Vriese AS, Smulders YM, Teerlink T, Tavares de Almeida I, Castro R, Blom HJ.

Biochim Biophys Acta. 2013 Oct;1832(10):1708-14. doi: 10.1016/j.bbadis.2013.05.013. Epub 2013 May 22.

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