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Items: 1 to 50 of 66

1.

Classical galactosemia: neuropsychological and psychosocial functioning beyond intellectual abilities.

Welsink-Karssies MM, Oostrom KJ, Hermans ME, Hollak CEM, Janssen MCH, Langendonk JG, Oussoren E, Gozalbo MER, de Vries M, Geurtsen GJ, Bosch AM.

Orphanet J Rare Dis. 2020 Feb 7;15(1):42. doi: 10.1186/s13023-019-1277-0.

2.

The Galactose Index measured in fibroblasts of GALT deficient patients distinguishes variant patients detected by newborn screening from patients with classical phenotypes.

Welsink-Karssies MM, van Weeghel M, Hollak CEM, Elfrink HL, Janssen MCH, Lai K, Langendonk JG, Oussoren E, Ruiter JPN, Treacy EP, de Vries M, Ferdinandusse S, Bosch AM.

Mol Genet Metab. 2020 Jan 9. pii: S1096-7192(19)31323-X. doi: 10.1016/j.ymgme.2020.01.002. [Epub ahead of print]

3.

The 1-13 C galactose breath test in GALT deficient patients distinguishes NBS detected variant patients but does not predict outcome in classical phenotypes.

Welsink-Karssies MM, van Harskamp D, Ferdinandusse S, Hollak CEM, Huidekoper HH, Janssen MCH, Kemper EM, Langendonk JG, Rubio-Gozalbo ME, de Vries MC, Wijburg FA, Schierbeek H, Bosch AM.

J Inherit Metab Dis. 2019 Dec 17. doi: 10.1002/jimd.12207. [Epub ahead of print]

PMID:
31845337
4.

Retrospective evaluation of the Dutch pre-newborn screening cohort for propionic acidemia and isolated methylmalonic acidemia: What to aim, expect, and evaluate from newborn screening?

Haijes HA, Molema F, Langeveld M, Janssen MC, Bosch AM, van Spronsen F, Mulder MF, Verhoeven-Duif NM, Jans JJM, van der Ploeg AT, Wagenmakers MA, Rubio-Gozalbo ME, Brouwers MCGJ, de Vries MC, Langendonk JG, Williams M, van Hasselt PM.

J Inherit Metab Dis. 2019 Dec 11. doi: 10.1002/jimd.12193. [Epub ahead of print]

PMID:
31828787
5.

Untargeted Metabolomics-Based Screening Method for Inborn Errors of Metabolism using Semi-Automatic Sample Preparation with an UHPLC- Orbitrap-MS Platform.

Bonte R, Bongaerts M, Demirdas S, Langendonk JG, Huidekoper HH, Williams M, Onkenhout W, Jacobs EH, Blom HJ, Ruijter GJG.

Metabolites. 2019 Nov 26;9(12). pii: E289. doi: 10.3390/metabo9120289.

6.

[Reduced consciousness levels caused by hyperammonaemia].

Driessen LM, du Pré BC, Schuit SCE, Langendonk JG, Zandbergen AAM, Wagenmakers MAEM.

Ned Tijdschr Geneeskd. 2019 Oct 10;163. pii: D4013. Dutch.

PMID:
31609561
7.

Heme as an initial treatment for severe decompensation in tyrosinemia type 1.

Neeleman RA, Wilson JHP, Williams M, Langendonk JG.

Genet Med. 2020 Feb;22(2):437-438. doi: 10.1038/s41436-019-0658-z. Epub 2019 Oct 1. No abstract available.

PMID:
31570800
8.

EXPLORE: A Prospective, Multinational, Natural History Study of Patients with Acute Hepatic Porphyria with Recurrent Attacks.

Gouya L, Ventura P, Balwani M, Bissell DM, Rees DC, Stölzel U, Phillips JD, Kauppinen R, Langendonk JG, Desnick RJ, Deybach JC, Bonkovsky HL, Parker C, Naik H, Badminton M, Stein PE, Minder E, Windyga J, Bruha R, Cappellini MD, Sardh E, Harper P, Sandberg S, Aarsand AK, Andersen J, Alegre F, Ivanova A, Talbi N, Chan A, Querbes W, Ko J, Penz C, Liu S, Lin T, Simon A, Anderson KE.

Hepatology. 2019 Sep 12. doi: 10.1002/hep.30936. [Epub ahead of print]

PMID:
31512765
9.

Letter to the editor: Diagnosis of erythropoietic protoporphyria with severe liver injury - a case report.

Wensink D, Wagenmakers MA, Wilson JP, Langendonk JG.

World J Gastroenterol. 2019 Aug 14;25(30):4292-4293. doi: 10.3748/wjg.v25.i30.4292.

10.

Successful Treatment of Severe Hyperammonaemia with Ultra-High Dose Continuous Veno-Venous Haemodiafiltration.

Boer DP, Mourik SL, van den Hoogen MWF, Langendonk JG, de Geus HRH.

Blood Purif. 2019;48(3):283-285. doi: 10.1159/000499829. Epub 2019 May 3.

11.

The natural history of classic galactosemia: lessons from the GalNet registry.

Rubio-Gozalbo ME, Haskovic M, Bosch AM, Burnyte B, Coelho AI, Cassiman D, Couce ML, Dawson C, Demirbas D, Derks T, Eyskens F, Forga MT, Grunewald S, Häberle J, Hochuli M, Hubert A, Huidekoper HH, Janeiro P, Kotzka J, Knerr I, Labrune P, Landau YE, Langendonk JG, Möslinger D, Müller-Wieland D, Murphy E, Õunap K, Ramadza D, Rivera IA, Scholl-Buergi S, Stepien KM, Thijs A, Tran C, Vara R, Visser G, Vos R, de Vries M, Waisbren SE, Welsink-Karssies MM, Wortmann SB, Gautschi M, Treacy EP, Berry GT.

Orphanet J Rare Dis. 2019 Apr 27;14(1):86. doi: 10.1186/s13023-019-1047-z.

12.

Clinical Remission of Delta-Aminolevulinic Acid Dehydratase Deficiency Through Suppression of Erythroid Heme Synthesis.

Neeleman RA, van Beers EJ, Friesema EC, Koole-Lesuis R, van der Pol WL, Wilson JHP, Langendonk JG.

Hepatology. 2019 Jul;70(1):434-436. doi: 10.1002/hep.30543. Epub 2019 Jun 6. No abstract available.

13.

Aceruloplasminemia: Neurodegeneration with brain iron accumulation associated with psychosis.

Vroegindeweij LHP, Boon AJW, Wilson JHP, Langendonk JG.

J Inherit Metab Dis. 2019 Mar;42(2):195-196. doi: 10.1002/jimd.12064. Epub 2019 Mar 3. No abstract available.

PMID:
30671987
14.

Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias.

Molema F, Jacobs EH, Onkenhout W, Schoonderwoerd GC, Langendonk JG, Williams M.

J Inherit Metab Dis. 2018 Nov;41(6):1179-1187. doi: 10.1007/s10545-018-0244-6. Epub 2018 Aug 29.

15.

Correction to: Medical and financial burden of acute intermittent porphyria.

Neeleman RA, Wagenmakers MAEM, Koole-Lesuis RH, Mijnhout GS, Wilson JHP, Friesema ECH, Langendonk JG.

J Inherit Metab Dis. 2018 Nov;41(6):1297-1298. doi: 10.1007/s10545-018-0216-x.

16.

The impact of metabolic control and tetrahydrobiopterin treatment on health related quality of life of patients with early-treated phenylketonuria: A PKU-COBESO study.

Huijbregts SCJ, Bosch AM, Simons QA, Jahja R, Brouwers MCGJ, De Sonneville LMJ, De Vries MC, Hofstede FC, Hollak CEM, Janssen MCH, Langendonk JG, Rubio-Gozalbo ME, Van der Meere JJ, Van der Ploeg AT, Van Spronsen FJ.

Mol Genet Metab. 2018 Sep;125(1-2):96-103. doi: 10.1016/j.ymgme.2018.07.002. Epub 2018 Jul 7.

PMID:
30007854
17.

Mucolipidosis type III, a series of adult patients.

Oussoren E, van Eerd D, Murphy E, Lachmann R, van der Meijden JC, Hoefsloot LH, Verdijk R, Ruijter GJG, Maas M, Hollak CEM, Langendonk JG, van der Ploeg AT, Langeveld M.

J Inherit Metab Dis. 2018 Sep;41(5):839-848. doi: 10.1007/s10545-018-0186-z. Epub 2018 Apr 27.

18.

Medical and financial burden of acute intermittent porphyria.

Neeleman RA, Wagenmakers MAEM, Koole-Lesuis RH, Mijnhout GS, Wilson JHP, Friesema ECH, Langendonk JG.

J Inherit Metab Dis. 2018 Sep;41(5):809-817. doi: 10.1007/s10545-018-0178-z. Epub 2018 Apr 19. Erratum in: J Inherit Metab Dis. 2018 Jul 27;:.

19.

Hair cortisol is elevated in patients with erythropoietic protoporphyria and correlates with body mass index and quality of life.

Suijker I, Savas M, van Rossum EFC, Langendonk JG.

Br J Dermatol. 2018 May;178(5):1209-1210. doi: 10.1111/bjd.16341. Epub 2018 Apr 6. No abstract available.

PMID:
29341104
20.

Osteoporosis in patients with erythropoietic protoporphyria.

Biewenga M, Matawlie RHS, Friesema ECH, Koole-Lesuis H, Langeveld M, Wilson JHP, Langendonk JG.

Br J Dermatol. 2017 Dec;177(6):1693-1698. doi: 10.1111/bjd.15893. Epub 2017 Nov 22.

PMID:
28815553
21.

Long-Term Follow-Up of Cognition and Mental Health in Adult Phenylketonuria: A PKU-COBESO Study.

Jahja R, van Spronsen FJ, de Sonneville LMJ, van der Meere JJ, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ.

Behav Genet. 2017 Sep;47(5):486-497. doi: 10.1007/s10519-017-9863-1. Epub 2017 Aug 3.

22.

Introduction of the DiaGene study: clinical characteristics, pathophysiology and determinants of vascular complications of type 2 diabetes.

van Herpt TTW, Lemmers RFH, van Hoek M, Langendonk JG, Erdtsieck RJ, Bravenboer B, Lucas A, Mulder MT, Haak HR, Lieverse AG, Sijbrands EJG.

Diabetol Metab Syndr. 2017 Jun 19;9:47. doi: 10.1186/s13098-017-0245-x. eCollection 2017.

23.

Fertility in adult women with classic galactosemia and primary ovarian insufficiency.

van Erven B, Berry GT, Cassiman D, Connolly G, Forga M, Gautschi M, Gubbels CS, Hollak CEM, Janssen MC, Knerr I, Labrune P, Langendonk JG, Õunap K, Thijs A, Vos R, Wortmann SB, Rubio-Gozalbo ME.

Fertil Steril. 2017 Jul;108(1):168-174. doi: 10.1016/j.fertnstert.2017.05.013. Epub 2017 Jun 1. Review.

PMID:
28579413
24.

Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO study.

Jahja R, Huijbregts SCJ, de Sonneville LMJ, van der Meere JJ, Legemaat AM, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, van Spronsen FJ.

Neuropsychology. 2017 May;31(4):437-447. doi: 10.1037/neu0000358. Epub 2017 Mar 20.

PMID:
28318283
25.

Insufficient Evidence of Cimetidine Benefit in Protoporphyria.

Langendonk JG, Wilson JHP.

JAMA Dermatol. 2017 Feb 1;153(2):237. doi: 10.1001/jamadermatol.2016.4049. No abstract available.

PMID:
30974454
26.

New insights in the neurological phenotype of aceruloplasminemia in Caucasian patients.

Vroegindeweij LHP, Langendonk JG, Langeveld M, Hoogendoorn M, Kievit AJA, Di Raimondo D, Wilson JHP, Boon AJW.

Parkinsonism Relat Disord. 2017 Mar;36:33-40. doi: 10.1016/j.parkreldis.2016.12.010. Epub 2016 Dec 15.

PMID:
28012953
27.

Acute intermittent porphyria-related leukoencephalopathy.

Kevelam SH, Neeleman RA, Waisfisz Q, Friesema EC, Langendonk JG, van der Knaap MS.

Neurology. 2016 Sep 20;87(12):1258-65. doi: 10.1212/WNL.0000000000003129. Epub 2016 Aug 24.

PMID:
27558376
28.

Severe tracheal and bronchial collapse in adults with type II mucopolysaccharidosis.

Rutten M, Ciet P, van den Biggelaar R, Oussoren E, Langendonk JG, van der Ploeg AT, Langeveld M.

Orphanet J Rare Dis. 2016 Apr 26;11:50. doi: 10.1186/s13023-016-0425-z.

29.

Social-cognitive functioning and social skills in patients with early treated phenylketonuria: a PKU-COBESO study.

Jahja R, van Spronsen FJ, de Sonneville LMJ, van der Meere JJ, Bosch AM, Hollak CEM, Rubio-Gozalbo ME, Brouwers MCGJ, Hofstede FC, de Vries MC, Janssen MCH, van der Ploeg AT, Langendonk JG, Huijbregts SCJ.

J Inherit Metab Dis. 2016 May;39(3):355-362. doi: 10.1007/s10545-016-9918-0. Epub 2016 Feb 25.

30.

Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.

Hollak CE, Biegstraaten M, Baumgartner MR, Belmatoug N, Bembi B, Bosch A, Brouwers M, Dekker H, Dobbelaere D, Engelen M, Groenendijk MC, Lachmann R, Langendonk JG, Langeveld M, Linthorst G, Morava E, Poll-The BT, Rahman S, Rubio-Gozalbo ME, Spiekerkoetter U, Treacy E, Wanders R, Zschocke J, Hagendijk R.

Orphanet J Rare Dis. 2016 Jan 25;11:7. doi: 10.1186/s13023-016-0383-5.

31.

Hyperoxia increases arterial oxygen pressure during exercise in type 2 diabetes patients: a feasibility study.

Rozenberg R, Mankowski RT, van Loon LJ, Langendonk JG, Sijbrands EJ, van den Meiracker AH, Stam HJ, Praet SF.

Eur J Med Res. 2016 Jan 8;21:1. doi: 10.1186/s40001-015-0194-5.

32.

Increased Aortic Valve Calcification in Familial Hypercholesterolemia: Prevalence, Extent, and Associated Risk Factors.

Ten Kate GR, Bos S, Dedic A, Neefjes LA, Kurata A, Langendonk JG, Liem A, Moelker A, Krestin GP, de Feyter PJ, Roeters van Lennep JE, Nieman K, Sijbrands EJ.

J Am Coll Cardiol. 2015 Dec 22;66(24):2687-2695. doi: 10.1016/j.jacc.2015.09.087.

33.

Discriminative Ability of Plasma Branched-Chain Amino Acid Levels for Glucose Intolerance in Families At Risk for Type 2 Diabetes.

Jainandunsing S, Wattimena JL, Verhoeven AJ, Langendonk JG, Rietveld T, Isaacs AJ, Sijbrands EJ, de Rooij FW.

Metab Syndr Relat Disord. 2016 Apr;14(3):175-81. doi: 10.1089/met.2015.0102. Epub 2015 Dec 14.

PMID:
26653072
34.

Afamelanotide for Erythropoietic Protoporphyria.

Langendonk JG, Balwani M, Anderson KE, Bonkovsky HL, Anstey AV, Bissell DM, Bloomer J, Edwards C, Neumann NJ, Parker C, Phillips JD, Lim HW, Hamzavi I, Deybach JC, Kauppinen R, Rhodes LE, Frank J, Murphy GM, Karstens FPJ, Sijbrands EJG, de Rooij FWM, Lebwohl M, Naik H, Goding CR, Wilson JHP, Desnick RJ.

N Engl J Med. 2015 Jul 2;373(1):48-59. doi: 10.1056/NEJMoa1411481.

35.

Liver Fibrosis Associated with Iron Accumulation Due to Long-Term Heme-Arginate Treatment in Acute Intermittent Porphyria: A Case Series.

Willandt B, Langendonk JG, Biermann K, Meersseman W, D'Heygere F, George C, Verslype C, Monbaliu D, Cassiman D.

JIMD Rep. 2016;25:77-81. Epub 2015 Jun 21.

36.

Treatment for erythropoietic protoporphyria.

Langendonk JG.

Br J Dermatol. 2015 Jun;172(6):1481-1482. doi: 10.1111/bjd.13769. No abstract available.

PMID:
26036158
37.

Aceruloplasminemia presents as Type 1 diabetes in non-obese adults: a detailed case series.

Vroegindeweij LH, van der Beek EH, Boon AJ, Hoogendoorn M, Kievit JA, Wilson JH, Langendonk JG.

Diabet Med. 2015 Aug;32(8):993-1000. doi: 10.1111/dme.12712. Epub 2015 Feb 20. Review.

PMID:
25661792
38.

Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?

Liemburg GB, Jahja R, van Spronsen FJ, de Sonneville LM, van der Meere JJ, Bosch AM, Hollak CE, Rubio-Gozalbo ME, Brouwers MC, Hofstede FC, de Vries MC, Janssen MC, van der Ploeg AT, Langendonk JG, Huijbregts SC.

Mol Genet Metab. 2015 Mar;114(3):425-30. doi: 10.1016/j.ymgme.2014.12.302. Epub 2014 Dec 12.

PMID:
25541101
39.

Aceruloplasminemia: neurodegeneration with brain iron accumulation (NBIA) associated with parkinsonism.

Vroegindeweij LH, Boon AJ, Wilson JH, Langendonk JG.

J Inherit Metab Dis. 2015 Mar;38(2):375-6. doi: 10.1007/s10545-014-9793-5. Epub 2014 Nov 21. No abstract available.

PMID:
25413956
40.

Failing beta-cell adaptation in South Asian families with a high risk of type 2 diabetes.

Jainandunsing S, Özcan B, Rietveld T, van Miert JN, Isaacs AJ, Langendonk JG, de Rooij FW, Sijbrands EJ.

Acta Diabetol. 2015 Feb;52(1):11-9. doi: 10.1007/s00592-014-0588-9. Epub 2014 May 5.

41.

Predicting non-adherence in patients with familial hypercholesterolemia.

Galema-Boers JM, Lenzen MJ, van Domburg RT, Roeters van Lennep J, van Bruchem-van de Scheur GG, Sijbrands EJ, Langendonk JG.

Eur J Clin Pharmacol. 2014 Apr;70(4):391-7. doi: 10.1007/s00228-013-1640-3. Epub 2014 Jan 22.

PMID:
24449092
42.

Mental health and social functioning in early treated Phenylketonuria: the PKU-COBESO study.

Jahja R, Huijbregts SC, de Sonneville LM, van der Meere JJ, Bosch AM, Hollak CE, Rubio-Gozalbo ME, Brouwers MC, Hofstede FC, de Vries MC, Janssen MC, van der Ploeg AT, Langendonk JG, van Spronsen FJ.

Mol Genet Metab. 2013;110 Suppl:S57-61. doi: 10.1016/j.ymgme.2013.10.011. Epub 2013 Oct 22.

PMID:
24183792
43.

Evaluation of quality of life in PKU before and after introducing tetrahydrobiopterin (BH4); a prospective multi-center cohort study.

Demirdas S, Maurice-Stam H, Boelen CC, Hofstede FC, Janssen MC, Langendonk JG, Mulder MF, Rubio-Gozalbo ME, van Spronsen FJ, de Vries M, Grootenhuis MA, Bosch AM.

Mol Genet Metab. 2013;110 Suppl:S49-56. doi: 10.1016/j.ymgme.2013.09.015. Epub 2013 Sep 25.

PMID:
24100246
44.

Recommendations for pregnancies in patients with crigler-najjar syndrome.

Wilson JH, Sinaasappel M, Lotgering FK, Langendonk JG.

JIMD Rep. 2013;7:59-62. doi: 10.1007/8904_2012_142. Epub 2012 Apr 22.

45.

The effect of LDLR-negative genotype on CT coronary atherosclerosis in asymptomatic statin treated patients with heterozygous familial hypercholesterolemia.

Ten Kate GJ, Neefjes LA, Dedic A, Nieman K, Langendonk JG, Galema-Boers AJ, Roeters van Lennep J, Moelker A, Krestin GP, Sijbrands EJ, de Feyter PJ.

Atherosclerosis. 2013 Apr;227(2):334-41. doi: 10.1016/j.atherosclerosis.2012.12.016. Epub 2013 Jan 8.

PMID:
23369702
46.

[Complications due to receiving incorrect amino acid preparations].

van der Wiel AM, Janssen M, Hollack C, Langendonk JG.

Ned Tijdschr Geneeskd. 2013;157(3):A5183. Dutch.

PMID:
23328017
47.

Nitrite- and nitroxyl-induced relaxation in porcine coronary (micro-) arteries: underlying mechanisms and role as endothelium-derived hyperpolarizing factor(s).

Botden IP, Batenburg WW, de Vries R, Langendonk JG, Sijbrands EJ, Danser AH.

Pharmacol Res. 2012 Nov;66(5):409-18. doi: 10.1016/j.phrs.2012.07.006. Epub 2012 Aug 9.

PMID:
22902525
48.

Patients with chronic gastrointestinal ischemia have a higher cardiovascular disease risk and mortality.

Sana A, van Noord D, Mensink PB, Kooij S, van Dijk K, Bravenboer B, Lieverse AG, Sijbrands EJ, Langendonk JG, Kuipers EJ.

Atherosclerosis. 2012 Sep;224(1):235-41. doi: 10.1016/j.atherosclerosis.2012.07.007. Epub 2012 Jul 15.

PMID:
22862964
49.

Red wine extract protects against oxidative-stress-induced endothelial senescence.

Botden IP, Oeseburg H, Durik M, Leijten FP, Van Vark-Van Der Zee LC, Musterd-Bhaggoe UM, Garrelds IM, Seynhaeve AL, Langendonk JG, Sijbrands EJ, Danser AH, Roks AJ.

Clin Sci (Lond). 2012 Oct;123(8):499-507. doi: 10.1042/CS20110679.

PMID:
22563892
50.

Red wine polyphenols do not lower peripheral or central blood pressure in high normal blood pressure and hypertension.

Botden IP, Draijer R, Westerhof BE, Rutten JH, Langendonk JG, Sijbrands EJ, Danser AH, Zock PL, van den Meiracker AH.

Am J Hypertens. 2012 Jun;25(6):718-23. doi: 10.1038/ajh.2012.25. Epub 2012 Mar 15.

PMID:
22421906

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