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Items: 1 to 50 of 171

1.

Inborn errors of enzymes in glutamate metabolism.

Rumping L, Vringer E, Houwen RH, van Hasselt PM, Jans JJ, Verhoeven-Duif N.

J Inherit Metab Dis. 2019 Oct 11. doi: 10.1002/jimd.12180. [Epub ahead of print] Review.

PMID:
31603991
2.

DGAT2 partially compensates for lipid-induced ER stress in human DGAT1-deficient intestinal stem cells.

van Rijn JM, van Hoesel M, de Heus C, van Vugt AHM, Klumperman J, Nieuwenhuis EES, Houwen RHJ, Middendorp S.

J Lipid Res. 2019 Oct;60(10):1787-1800. doi: 10.1194/jlr.M094201. Epub 2019 Jul 17.

PMID:
31315900
3.

Comparative effectiveness of common therapies for Wilson disease: A systematic review and meta-analysis of controlled studies.

Appenzeller-Herzog C, Mathes T, Heeres MLS, Weiss KH, Houwen RHJ, Ewald H.

Liver Int. 2019 Jun 17. doi: 10.1111/liv.14179. [Epub ahead of print]

PMID:
31206982
4.

Disease progression in paediatric- and adult-onset sclerosing cholangitis: Results from two independent Dutch registries.

Joosse ME, Haisma SM, Sterk MFM, van Munster KN, Ponsioen CIJ, Houwen RHJ, Koot BGP, de Meij T, van Rheenen PF, de Koning BAE.

Liver Int. 2019 Sep;39(9):1768-1775. doi: 10.1111/liv.14159. Epub 2019 Jun 26.

PMID:
31152478
5.

Impact of Paediatric Versus Adult Care Setting on Health Care Utilization in Adolescents With Inflammatory Bowel Disease.

Bottema RWB, de Vries H, Houwen RHJ, van Rheenen PF.

J Pediatr Gastroenterol Nutr. 2019 Sep;69(3):310-316. doi: 10.1097/MPG.0000000000002399.

PMID:
31124888
6.

Rectal Organoids Enable Personalized Treatment of Cystic Fibrosis.

Berkers G, van Mourik P, Vonk AM, Kruisselbrink E, Dekkers JF, de Winter-de Groot KM, Arets HGM, Marck-van der Wilt REP, Dijkema JS, Vanderschuren MM, Houwen RHJ, Heijerman HGM, van de Graaf EA, Elias SG, Majoor CJ, Koppelman GH, Roukema J, Bakker M, Janssens HM, van der Meer R, Vries RGJ, Clevers HC, de Jonge HR, Beekman JM, van der Ent CK.

Cell Rep. 2019 Feb 12;26(7):1701-1708.e3. doi: 10.1016/j.celrep.2019.01.068.

7.

Identification of a Loss-of-Function Mutation in the Context of Glutaminase Deficiency and Neonatal Epileptic Encephalopathy.

Rumping L, Büttner B, Maier O, Rehmann H, Lequin M, Schlump JU, Schmitt B, Schiebergen-Bronkhorst B, Prinsen HCMT, Losa M, Fingerhut R, Lemke JR, Zwartkruis FJT, Houwen RHJ, Jans JJM, Verhoeven-Duif NM, van Hasselt PM, Jamra R.

JAMA Neurol. 2019 Mar 1;76(3):342-350. doi: 10.1001/jamaneurol.2018.2941.

PMID:
30575854
8.

Cirrhosis associated with decreased survival and a 10-year lower median age at death of cystic fibrosis patients in the Netherlands.

Pals FH, Verkade HJ, Gulmans VAM, De Koning BAE, Koot BGP, De Meij TGJ, Hendriks DM, Gierenz N, Vreugdenhil ACE, Houwen RHJ, Bodewes FAJA.

J Cyst Fibros. 2019 May;18(3):385-389. doi: 10.1016/j.jcf.2018.11.009. Epub 2018 Dec 14.

PMID:
30558881
9.

Vitamin D intake, serum 25-hydroxy vitamin D and pulmonary function in paediatric patients with cystic fibrosis: a longitudinal approach.

Timmers NKLM, Stellato RK, van der Ent CK, Houwen RHJ, Woestenenk JW.

Br J Nutr. 2019 Jan;121(2):195-201. doi: 10.1017/S0007114518003021. Epub 2018 Nov 16.

PMID:
30442206
10.

IVACAFTOR restores FGF19 regulated bile acid homeostasis in cystic fibrosis patients with an S1251N or a G551D gating mutation.

van de Peppel IP, Doktorova M, Berkers G, de Jonge HR, Houwen RHJ, Verkade HJ, Jonker JW, Bodewes FAJA.

J Cyst Fibros. 2019 Mar;18(2):286-293. doi: 10.1016/j.jcf.2018.09.001. Epub 2018 Sep 29.

PMID:
30279125
11.

GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.

Rumping L, Tessadori F, Pouwels PJW, Vringer E, Wijnen JP, Bhogal AA, Savelberg SMC, Duran KJ, Bakkers MJG, Ramos RJJ, Schellekens PAW, Kroes HY, Klomp DWJ, Black GCM, Taylor RL, Bakkers JPW, Prinsen HCMT, van der Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJT, Houwen RHJ, van Haaften G, Verhoeven-Duif NM, Jans JJM, van Hasselt PM.

Hum Mol Genet. 2019 Jan 1;28(1):96-104. doi: 10.1093/hmg/ddy330.

PMID:
30239721
12.

Systematic review of progressive familial intrahepatic cholestasis.

Baker A, Kerkar N, Todorova L, Kamath BM, Houwen RHJ.

Clin Res Hepatol Gastroenterol. 2019 Feb;43(1):20-36. doi: 10.1016/j.clinre.2018.07.010. Epub 2018 Sep 17.

13.

Stratifying infants with cystic fibrosis for disease severity using intestinal organoid swelling as a biomarker of CFTR function.

de Winter-de Groot KM, Janssens HM, van Uum RT, Dekkers JF, Berkers G, Vonk A, Kruisselbrink E, Oppelaar H, Vries R, Clevers H, Houwen RHJ, Escher JC, Elias SG, de Jonge HR, de Rijke YB, Tiddens HAWM, van der Ent CK, Beekman JM.

Eur Respir J. 2018 Sep 17;52(3). pii: 1702529. doi: 10.1183/13993003.02529-2017. Print 2018 Sep.

PMID:
30166324
14.

Aminoacyl-tRNA synthetase deficiencies in search of common themes.

Fuchs SA, Schene IF, Kok G, Jansen JM, Nikkels PGJ, van Gassen KLI, Terheggen-Lagro SWJ, van der Crabben SN, Hoeks SE, Niers LEM, Wolf NI, de Vries MC, Koolen DA, Houwen RHJ, Mulder MF, van Hasselt PM.

Genet Med. 2019 Feb;21(2):319-330. doi: 10.1038/s41436-018-0048-y. Epub 2018 Jun 6.

PMID:
29875423
15.

Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.

van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Thian M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, Boztug K.

Gastroenterology. 2018 Jul;155(1):130-143.e15. doi: 10.1053/j.gastro.2018.03.040. Epub 2018 Mar 29.

16.

The relationship between energy intake and body-growth in children with cystic fibrosis.

Woestenenk JW, Dalmeijer GW, van der Ent CK, Houwen RH.

Clin Nutr. 2019 Apr;38(2):920-925. doi: 10.1016/j.clnu.2018.02.005. Epub 2018 Feb 15.

PMID:
29472121
17.

Serum intestinal fatty acid-binding protein in the noninvasive diagnosis of celiac disease.

Oldenburger IB, Wolters VM, Kardol-Hoefnagel T, Houwen RHJ, Otten HG.

APMIS. 2018 Mar;126(3):186-190. doi: 10.1111/apm.12800. Epub 2018 Jan 31.

PMID:
29383769
18.

Less Anti-infliximab Antibody Formation in Paediatric Crohn Patients on Concomitant Immunomodulators.

Kansen HM, van Rheenen PF, Houwen RHJ, Tjon A Ten W, Damen GM, Kindermann A, Escher JC, Wolters VM; Kids with Crohnʼs, Colitis (KiCC) Working Group for Collaborative Paediatric IBD Research in the Netherlands.

J Pediatr Gastroenterol Nutr. 2017 Oct;65(4):425-429. doi: 10.1097/MPG.0000000000001551.

PMID:
28945207
19.

Progress towards non-invasive diagnosis and follow-up of celiac disease in children; a prospective multicentre study to the usefulness of plasma I-FABP.

Adriaanse MPM, Mubarak A, Riedl RG, Ten Kate FJW, Damoiseaux JGMC, Buurman WA, Houwen RHJ, Vreugdenhil ACE; Celiac Disease Study Group.

Sci Rep. 2017 Aug 17;7(1):8671. doi: 10.1038/s41598-017-07242-4.

20.

Effects of new and emerging therapies on gastrointestinal outcomes in cystic fibrosis.

Houwen RHJ, van der Woerd WL, Slae M, Wilschanski M.

Curr Opin Pulm Med. 2017 Nov;23(6):551-555. doi: 10.1097/MCP.0000000000000423. Review.

PMID:
28787381
21.

CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.

Ozen A, Comrie WA, Ardy RC, Domínguez Conde C, Dalgic B, Beser ÖF, Morawski AR, Karakoc-Aydiner E, Tutar E, Baris S, Ozcay F, Serwas NK, Zhang Y, Matthews HF, Pittaluga S, Folio LR, Unlusoy Aksu A, McElwee JJ, Krolo A, Kiykim A, Baris Z, Gulsan M, Ogulur I, Snapper SB, Houwen RHJ, Leavis HL, Ertem D, Kain R, Sari S, Erkan T, Su HC, Boztug K, Lenardo MJ.

N Engl J Med. 2017 Jul 6;377(1):52-61. doi: 10.1056/NEJMoa1615887. Epub 2017 Jun 28.

22.

Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.

van Haaften-Visser DY, Harakalova M, Mocholi E, van Montfrans JM, Elkadri A, Rieter E, Fiedler K, van Hasselt PM, Triffaux EMM, van Haelst MM, Nijman IJ, Kloosterman WP, Nieuwenhuis EES, Muise AM, Cuppen E, Houwen RHJ, Coffer PJ.

J Biol Chem. 2017 May 12;292(19):7904-7920. doi: 10.1074/jbc.M116.772038. Epub 2017 Mar 16.

23.

Dietary intake and lipid profile in children and adolescents with cystic fibrosis.

Woestenenk JW, Schulkes DA, Schipper HS, van der Ent CK, Houwen RHJ.

J Cyst Fibros. 2017 May;16(3):410-417. doi: 10.1016/j.jcf.2017.02.010. Epub 2017 Mar 7.

24.

Current and future therapies for inherited cholestatic liver diseases.

van der Woerd WL, Houwen RH, van de Graaf SF.

World J Gastroenterol. 2017 Feb 7;23(5):763-775. doi: 10.3748/wjg.v23.i5.763. Review.

25.

Laparoscopic antireflux surgery increases health-related quality of life in children with GERD.

Mauritz FA, Stellato RK, van Heurn LWE, Siersema PD, Sloots CEJ, Houwen RHJ, van der Zee DC, van Herwaarden-Lindeboom MYA.

Surg Endosc. 2017 Aug;31(8):3122-3129. doi: 10.1007/s00464-016-5336-5. Epub 2016 Nov 18.

26.

Esophageal mucosal integrity improves after laparoscopic antireflux surgery in children with gastroesophageal reflux disease.

Mauritz FA, Rinsma NF, van Heurn ELW, Sloots CEJ, Siersema PD, Houwen RHJ, van der Zee DC, Masclee AAM, Conchillo JM, Van Herwaarden-Lindeboom MYA.

Surg Endosc. 2017 Jul;31(7):2910-2917. doi: 10.1007/s00464-016-5304-0. Epub 2016 Nov 1.

27.

Ursodeoxycholic acid treatment is associated with improvement of liver stiffness in cystic fibrosis patients.

van der Feen C, van der Doef HP, van der Ent CK, Houwen RH.

J Cyst Fibros. 2016 Nov;15(6):834-838. doi: 10.1016/j.jcf.2016.07.009.

28.

Effects and efficacy of laparoscopic fundoplication in children with GERD: a prospective, multicenter study.

Mauritz FA, Conchillo JM, van Heurn LWE, Siersema PD, Sloots CEJ, Houwen RHJ, van der Zee DC, van Herwaarden-Lindeboom MYA.

Surg Endosc. 2017 Mar;31(3):1101-1110. doi: 10.1007/s00464-016-5070-z. Epub 2016 Jul 1.

29.

Characterizing responses to CFTR-modulating drugs using rectal organoids derived from subjects with cystic fibrosis.

Dekkers JF, Berkers G, Kruisselbrink E, Vonk A, de Jonge HR, Janssens HM, Bronsveld I, van de Graaf EA, Nieuwenhuis EE, Houwen RH, Vleggaar FP, Escher JC, de Rijke YB, Majoor CJ, Heijerman HG, de Winter-de Groot KM, Clevers H, van der Ent CK, Beekman JM.

Sci Transl Med. 2016 Jun 22;8(344):344ra84. doi: 10.1126/scitranslmed.aad8278.

PMID:
27334259
30.

Impact of laparoscopic antireflux surgery on belching in pediatric GERD patients.

Rinsma NF, Mauritz FA, van Heurn LW, Sloots CE, Siersema PD, Houwen RH, van der Zee DC, Masclee AA, Conchillo JM, Van Herwaarden-Lindeboom MY.

Neurogastroenterol Motil. 2016 Oct;28(10):1525-32. doi: 10.1111/nmo.12850. Epub 2016 May 5.

PMID:
27151185
31.

Height Assessment in the Dutch-Origin Pediatric Cystic Fibrosis Population.

Woestenenk JW, Gulmans VA, van der Ent CK, Houwen RH.

Nutr Clin Pract. 2017 Feb;32(1):130-132. doi: 10.1177/0884533616639109. Epub 2016 Jul 10.

PMID:
27094687
32.

Rescue of defective ATP8B1 trafficking by CFTR correctors as a therapeutic strategy for familial intrahepatic cholestasis.

van der Woerd WL, Wichers CG, Vestergaard AL, Andersen JP, Paulusma CC, Houwen RH, van de Graaf SF.

J Hepatol. 2016 Jun;64(6):1339-47. doi: 10.1016/j.jhep.2016.02.001. Epub 2016 Feb 12.

PMID:
26879107
33.

Serum retinol levels and pulmonary function in children and adolescents with cystic fibrosis.

Woestenenk JW, Houwen RH.

J Cyst Fibros. 2016 Mar;15(2):e16. doi: 10.1016/j.jcf.2015.12.018. Epub 2016 Jan 16. No abstract available.

34.

The Menkes and Wilson disease genes counteract in copper toxicosis in Labrador retrievers: a new canine model for copper-metabolism disorders.

Fieten H, Gill Y, Martin AJ, Concilli M, Dirksen K, van Steenbeek FG, Spee B, van den Ingh TS, Martens EC, Festa P, Chesi G, van de Sluis B, Houwen RH, Watson AL, Aulchenko YS, Hodgkinson VL, Zhu S, Petris MJ, Polishchuk RS, Leegwater PA, Rothuizen J.

Dis Model Mech. 2016 Jan;9(1):25-38. doi: 10.1242/dmm.020263.

35.

Total biliary diversion as a treatment option for patients with progressive familial intrahepatic cholestasis and Alagille syndrome.

van der Woerd WL, Kokke FT, van der Zee DC, Houwen RH.

J Pediatr Surg. 2015 Nov;50(11):1846-9. doi: 10.1016/j.jpedsurg.2015.07.016. Epub 2015 Jul 27.

PMID:
26319776
36.

Immunohistochemical CD3 staining detects additional patients with celiac disease.

Mubarak A, Wolters VM, Houwen RH, ten Kate FJ.

World J Gastroenterol. 2015 Jun 28;21(24):7553-7. doi: 10.3748/wjg.v21.i24.7553.

37.

Vitamin A intake and serum retinol levels in children and adolescents with cystic fibrosis.

Woestenenk JW, Broos N, Stellato RK, Arets HG, van der Ent CK, Houwen RH.

Clin Nutr. 2016 Jun;35(3):654-9. doi: 10.1016/j.clnu.2015.04.010. Epub 2015 Apr 23.

PMID:
25975494
38.

Pancreatic Enzyme Replacement Therapy and Coefficient of Fat Absorption in Children and Adolescents With Cystic Fibrosis.

Woestenenk JW, van der Ent CK, Houwen RH.

J Pediatr Gastroenterol Nutr. 2015 Sep;61(3):355-60. doi: 10.1097/MPG.0000000000000784.

PMID:
25782658
39.

Vitamin E intake, α-tocopherol levels and pulmonary function in children and adolescents with cystic fibrosis.

Woestenenk JW, Broos N, Stellato RK, Arets HG, van der Ent CK, Houwen RH.

Br J Nutr. 2015 Apr 14;113(7):1096-101. doi: 10.1017/S0007114515000215. Epub 2015 Mar 12.

PMID:
25762411
40.

Increase of Serum γ-Glutamyltransferase Associated With Development of Cirrhotic Cystic Fibrosis Liver Disease.

Bodewes FA, van der Doef HP, Houwen RH, Verkade HJ.

J Pediatr Gastroenterol Nutr. 2015 Jul;61(1):113-8. doi: 10.1097/MPG.0000000000000758.

PMID:
25658056
41.

Serum retinol levels and pulmonary function in children and adolescents with cystic fibrosis.

Woestenenk JW, Broos N, Stellato RK, Arets HG, van der Ent CK, Houwen RH.

J Cyst Fibros. 2015 May;14(3):392-7. doi: 10.1016/j.jcf.2014.11.007. Epub 2015 Jan 13.

42.

Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.

van der Woerd WL, Mulder J, Pagani F, Beuers U, Houwen RH, van de Graaf SF.

Hepatology. 2015 Apr;61(4):1382-91. doi: 10.1002/hep.27620. Epub 2015 Feb 23.

PMID:
25421123
43.

Monocarboxylate transporter 1 deficiency and ketone utilization.

van Hasselt PM, Ferdinandusse S, Monroe GR, Ruiter JP, Turkenburg M, Geerlings MJ, Duran K, Harakalova M, van der Zwaag B, Monavari AA, Okur I, Sharrard MJ, Cleary M, O'Connell N, Walker V, Rubio-Gozalbo ME, de Vries MC, Visser G, Houwen RH, van der Smagt JJ, Verhoeven-Duif NM, Wanders RJ, van Haaften G.

N Engl J Med. 2014 Nov 13;371(20):1900-7. doi: 10.1056/NEJMoa1407778.

44.

No increased risk of hepatocellular carcinoma in cirrhosis due to Wilson disease during long-term follow-up.

van Meer S, de Man RA, van den Berg AP, Houwen RH, Linn FH, van Oijen MG, Siersema PD, van Erpecum KJ.

J Gastroenterol Hepatol. 2015 Mar;30(3):535-9. doi: 10.1111/jgh.12716.

PMID:
25160780
45.

Treatment of paediatric cholestasis due to canalicular transport defects: yet another step forward.

Marin JJ, Houwen RH.

Gut. 2015 Jan;64(1):6-8. doi: 10.1136/gutjnl-2014-307014. Epub 2014 May 26. No abstract available.

PMID:
24861269
46.

Loss of syntaxin 3 causes variant microvillus inclusion disease.

Wiegerinck CL, Janecke AR, Schneeberger K, Vogel GF, van Haaften-Visser DY, Escher JC, Adam R, Thöni CE, Pfaller K, Jordan AJ, Weis CA, Nijman IJ, Monroe GR, van Hasselt PM, Cutz E, Klumperman J, Clevers H, Nieuwenhuis EE, Houwen RH, van Haaften G, Hess MW, Huber LA, Stapelbroek JM, Müller T, Middendorp S.

Gastroenterology. 2014 Jul;147(1):65-68.e10. doi: 10.1053/j.gastro.2014.04.002. Epub 2014 Apr 12.

PMID:
24726755
47.

Mutational analysis of ATP8B1 in patients with chronic pancreatitis.

van der Woerd WL, van Haaften-Visser DY, van de Graaf SF, Férec C, Masson E, Stapelbroek JM, Bugert P, Witt H, Houwen RH.

PLoS One. 2013 Nov 19;8(11):e80553. doi: 10.1371/journal.pone.0080553. eCollection 2013.

48.

Children with celiac disease and high tTGA are genetically and phenotypically different.

Mubarak A, Spierings E, Wolters VM, Otten HG, ten Kate FJ, Houwen RH.

World J Gastroenterol. 2013 Nov 7;19(41):7114-20. doi: 10.3748/wjg.v19.i41.7114.

49.

The relationship between body growth and pulmonary function in children with cystic fibrosis.

Woestenenk JW, Stellato RK, Terheggen-Lagro SW, van der Ent CK, Houwen RH.

Acta Paediatr. 2014 Feb;103(2):162-7. doi: 10.1111/apa.12462. Epub 2013 Nov 18.

PMID:
24117796
50.

Dietary intake in children and adolescents with cystic fibrosis.

Woestenenk JW, Castelijns SJ, van der Ent CK, Houwen RH.

Clin Nutr. 2014 Jun;33(3):528-32. doi: 10.1016/j.clnu.2013.07.011. Epub 2013 Jul 20.

PMID:
23920501

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