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Items: 1 to 50 of 161

1.

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

Rumping L, Tessadori F, Pouwels PJ, Vringer E, Wijnen JP, Bhogal AA, Savelberg SM, Duran KJ, Bakkers MJ, Ramos RJ, Schellekens PA, Kroes HY, Klomp DW, Black GC, Taylor RL, Bakkers JP, Prinsen HC, Knaap MS, Dansen TB, Rehmann H, Zwartkruis FJ, Houwen RH, Haaften G, Verhoeven-Duif NM, Jans JJ, Hasselt PM.

Hum Mol Genet. 2018 Sep 18. doi: 10.1093/hmg/ddy330. [Epub ahead of print]

PMID:
30239721
2.

Systematic review of progressive familial intrahepatic cholestasis.

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

Clin Res Hepatol Gastroenterol. 2018 Sep 17. pii: S2210-7401(18)30149-9. doi: 10.1016/j.clinre.2018.07.010. [Epub ahead of print]

PMID:
30236549
3.

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
4.

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. 2018 Jun 6. doi: 10.1038/s41436-018-0048-y. [Epub ahead of print]

PMID:
29875423
5.

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.

6.

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. 2018 Feb 15. pii: S0261-5614(18)30068-2. doi: 10.1016/j.clnu.2018.02.005. [Epub ahead of print]

PMID:
29472121
7.

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
8.

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
9.

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.

10.

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
11.

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.

12.

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.

13.

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.

PMID:
28283399
14.

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.

15.

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.

16.

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.

17.

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.

PMID:
27481229
18.

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.

19.

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
20.

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
21.

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
22.

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
23.

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.

24.

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.

25.

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
26.

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.

27.

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
28.

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
29.

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
30.

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
31.

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.

32.

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
33.

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.

34.

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
35.

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
36.

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
37.

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.

38.

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.

39.

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
40.

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
41.

The long-term outcome of the Kasai operation in patients with biliary atresia: a systematic review.

Bijl EJ, Bharwani KD, Houwen RH, de Man RA.

Neth J Med. 2013 May;71(4):170-3. Review.

42.

Laparoscopic Thal fundoplication in children: a prospective 10- to 15-year follow-up study.

Mauritz FA, van Herwaarden-Lindeboom MY, Zwaveling S, Houwen RH, Siersema PD, van der Zee DC.

Ann Surg. 2014 Feb;259(2):388-93. doi: 10.1097/SLA.0b013e318294102e.

PMID:
23657085
43.

Efficacy and safety of oral chelators in treatment of patients with Wilson disease.

Weiss KH, Thurik F, Gotthardt DN, Schäfer M, Teufel U, Wiegand F, Merle U, Ferenci-Foerster D, Maieron A, Stauber R, Zoller H, Schmidt HH, Reuner U, Hefter H, Trocello JM, Houwen RH, Ferenci P, Stremmel W; EUROWILSON Consortium.

Clin Gastroenterol Hepatol. 2013 Aug;11(8):1028-35.e1-2. doi: 10.1016/j.cgh.2013.03.012. Epub 2013 Mar 28.

PMID:
23542331
44.

Nutritional intervention in patients with Cystic Fibrosis: a systematic review.

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

J Cyst Fibros. 2013 Mar;12(2):102-15. doi: 10.1016/j.jcf.2012.11.005. Epub 2012 Dec 9. Review.

45.

Tissue transglutaminase levels above 100 U/mL and celiac disease: a prospective study.

Mubarak A, Wolters VM, Gmelig-Meyling FH, Ten Kate FJ, Houwen RH.

World J Gastroenterol. 2012 Aug 28;18(32):4399-403. doi: 10.3748/wjg.v18.i32.4399.

46.

Course of life into adulthood of patients with biliary atresia: the achievement of developmental milestones in a nationwide cohort.

Potgieser AR, de Vries W, Sze YK, Sieders E, Verkade HJ, Porte RJ, Hoekstra-Weebers JE, Hulscher JB; NeSBAR, Aronson DC, Damen G, Escher JH, van Heurn LW, Houwen RH, Heij HA, Hulscher JB, Kneepkens CM, Koot BG, de Langen ZJ, Madern G, van den Neucker AM, Peeters PM, Verkade HJ, de Vries W, van der Zee DC.

J Adolesc Health. 2012 Jun;50(6):641-4. doi: 10.1016/j.jadohealth.2011.10.007. Epub 2012 Feb 9.

PMID:
22626493
47.

Celiac disease: an overview from pathophysiology to treatment.

Mubarak A, Houwen RH, Wolters VM.

Minerva Pediatr. 2012 Jun;64(3):271-87. Review.

PMID:
22555320
48.

Application of exome sequencing in the search for genetic causes of rare disorders of copper metabolism.

Fuchs SA, Harakalova M, van Haaften G, van Hasselt PM, Cuppen E, Houwen RH.

Metallomics. 2012 Jul;4(7):606-13. doi: 10.1039/c2mt20034a. Epub 2012 May 4. Review.

PMID:
22555275
49.

Celiac disease is overrepresented in patients with constipation.

Pelleboer RA, Janssen RL, Deckers-Kocken JM, Wouters E, Nissen AC, Bolz WE, Ten WE, van der Feen C, Oosterhuis KJ, Rövekamp MH, Nikkels PG, Houwen RH.

J Pediatr (Rio J). 2012 Mar-Apr;88(2):173-6. doi: doi:10.2223/JPED.2155. Epub 2012 Mar 20.

50.

Immunoglobulin G antibodies against deamidated-gliadin-peptides outperform anti-endomysium and tissue transglutaminase antibodies in children <2 years age.

Mubarak A, Gmelig-Meyling FH, Wolters VM, Ten Kate FJ, Houwen RH.

APMIS. 2011 Dec;119(12):894-900. doi: 10.1111/j.1600-0463.2011.02817.x. Epub 2011 Sep 22.

PMID:
22085366

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