Sort by
Items per page

Send to

Choose Destination

Search results

Items: 1 to 50 of 95


[Whole exome sequencing and whole genome sequencing in undiagnosed disease: of value for certain patient populations].

Linthorst GE, Hollak CEM.

Ned Tijdschr Geneeskd. 2019 May 16;163. pii: D3711. Dutch.


[Respectful ethnic profiling in the care sector].

Achterbergh L, Suurmond J, Linthorst GE.

Ned Tijdschr Geneeskd. 2019 Mar 1;163. pii: D2716. Dutch.


The Natural History of Adrenal Insufficiency in X-Linked Adrenoleukodystrophy: An International Collaboration.

Huffnagel IC, Laheji FK, Aziz-Bose R, Tritos NA, Marino R, Linthorst GE, Kemp S, Engelen M, Eichler F.

J Clin Endocrinol Metab. 2019 Jan 1;104(1):118-126. doi: 10.1210/jc.2018-01307.


[Studying abroad; the other side of the coin].

van Vugt M, Linthorst GE.

Ned Tijdschr Geneeskd. 2018 Aug 30;162. pii: D3258. Dutch.


Congenital methaemoglobinaemia in a 61-year-old patient with normal haemoglobin levels.

de Geus KF, Anas AA, Franssen R, Duijkers FAM, Bikker H, Linthorst GE.

Neth J Med. 2018 May;76(4):194-197.


Hearing loss in children with Fabry disease.

Suntjens E, Dreschler WA, Hess-Erga J, Skrunes R, Wijburg FA, Linthorst GE, Tøndel C, Biegstraaten M.

J Inherit Metab Dis. 2017 Sep;40(5):725-731. doi: 10.1007/s10545-017-0051-5. Epub 2017 May 31.


Screening, diagnosis, and management of patients with Fabry disease: conclusions from a "Kidney Disease: Improving Global Outcomes" (KDIGO) Controversies Conference.

Schiffmann R, Hughes DA, Linthorst GE, Ortiz A, Svarstad E, Warnock DG, West ML, Wanner C; Conference Participants.

Kidney Int. 2017 Feb;91(2):284-293. doi: 10.1016/j.kint.2016.10.004. Epub 2016 Dec 18.


Characterization of Classical and Nonclassical Fabry Disease: A Multicenter Study.

Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, Hollak CE.

J Am Soc Nephrol. 2017 May;28(5):1631-1641. doi: 10.1681/ASN.2016090964. Epub 2016 Dec 15.


Adrenoleukodystrophy - neuroendocrine pathogenesis and redefinition of natural history.

Kemp S, Huffnagel IC, Linthorst GE, Wanders RJ, Engelen M.

Nat Rev Endocrinol. 2016 Oct;12(10):606-15. doi: 10.1038/nrendo.2016.90. Epub 2016 Jun 17. Review.


Erratum to: Pain management strategies for neuropathic pain in Fabry disease - a systematic review.

Schuller Y, Linthorst GE, Hollak CE, Van Schaik IN, Biegstraaten M.

BMC Neurol. 2016 May 16;16:67. doi: 10.1186/s12883-016-0590-7. No abstract available.


Pain management strategies for neuropathic pain in Fabry disease--a systematic review.

Schuller Y, Linthorst GE, Hollak CE, Van Schaik IN, Biegstraaten M.

BMC Neurol. 2016 Feb 24;16:25. doi: 10.1186/s12883-016-0549-8. Review. Erratum in: BMC Neurol. 2016;16:67.


Discontinuation of enzyme replacement therapy in Fabry disease in the Dutch cohort.

Arends M, Linthorst GE, Hollak CE, Biegstraaten M.

Mol Genet Metab. 2016 Feb;117(2):194-8. doi: 10.1016/j.ymgme.2015.11.014. Epub 2015 Dec 1.


[The 'interesting case' and patient privacy: handling patient data in medical education].

Leijssen LG, Linthorst GE, Geukers V, Ploem MC.

Ned Tijdschr Geneeskd. 2015;159:A9458. Review. Dutch.


The role of antibodies in enzyme treatments and therapeutic strategies.

Bigger BW, Saif M, Linthorst GE.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):183-94. doi: 10.1016/j.beem.2015.01.006. Epub 2015 Jan 24. Review.


Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document.

Biegstraaten M, Arngrímsson R, Barbey F, Boks L, Cecchi F, Deegan PB, Feldt-Rasmussen U, Geberhiwot T, Germain DP, Hendriksz C, Hughes DA, Kantola I, Karabul N, Lavery C, Linthorst GE, Mehta A, van de Mheen E, Oliveira JP, Parini R, Ramaswami U, Rudnicki M, Serra A, Sommer C, Sunder-Plassmann G, Svarstad E, Sweeb A, Terryn W, Tylki-Szymanska A, Tøndel C, Vujkovac B, Weidemann F, Wijburg FA, Woolfson P, Hollak CE.

Orphanet J Rare Dis. 2015 Mar 27;10:36. doi: 10.1186/s13023-015-0253-6.


Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease.

Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann RH, Lemay R, Linthorst GE, Packman S, Scott CR, Waldek S, Warnock DG, Weinreb NJ, Wilcox WR.

J Med Genet. 2015 May;52(5):353-8. doi: 10.1136/jmedgenet-2014-102797. Epub 2015 Mar 20.


The water deprivation test and a potential role for the arginine vasopressin precursor copeptin to differentiate diabetes insipidus from primary polydipsia.

de Fost M, Oussaada SM, Endert E, Linthorst GE, Serlie MJ, Soeters MR, DeVries JH, Bisschop PH, Fliers E.

Endocr Connect. 2015 Jun;4(2):86-91. doi: 10.1530/EC-14-0113. Epub 2015 Feb 23.


Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease.

Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE, Poorthuis BJ.

J Med Genet. 2015 Apr;52(4):262-8. doi: 10.1136/jmedgenet-2014-102872. Epub 2015 Jan 16.


Uncertain diagnosis of Fabry disease: consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance.

Smid BE, van der Tol L, Cecchi F, Elliott PM, Hughes DA, Linthorst GE, Timmermans J, Weidemann F, West ML, Biegstraaten M, Lekanne Deprez RH, Florquin S, Postema PG, Tomberli B, van der Wal AC, van den Bergh Weerman MA, Hollak CE.

Int J Cardiol. 2014 Dec 15;177(2):400-8. doi: 10.1016/j.ijcard.2014.09.001. Epub 2014 Sep 20. Review.


Hearing loss in adult patients with Fabry disease treated with enzyme replacement therapy.

Suntjens EB, Smid BE, Biegstraaten M, Dreschler WA, Hollak CE, Linthorst GE.

J Inherit Metab Dis. 2015 Mar;38(2):351-8. doi: 10.1007/s10545-014-9783-7. Epub 2014 Nov 14.


Uncertain diagnosis of fabry disease in patients with neuropathic pain, angiokeratoma or cornea verticillata: consensus on the approach to diagnosis and follow-up.

van der Tol L, Cassiman D, Houge G, Janssen MC, Lachmann RH, Linthorst GE, Ramaswami U, Sommer C, Tøndel C, West ML, Weidemann F, Wijburg FA, Svarstad E, Hollak CE, Biegstraaten M.

JIMD Rep. 2014;17:83-90. doi: 10.1007/8904_2014_342. Epub 2014 Sep 16.


Chronic kidney disease and an uncertain diagnosis of Fabry disease: approach to a correct diagnosis.

van der Tol L, Svarstad E, Ortiz A, Tøndel C, Oliveira JP, Vogt L, Waldek S, Hughes DA, Lachmann RH, Terryn W, Hollak CE, Florquin S, van den Bergh Weerman MA, Wanner C, West ML, Biegstraaten M, Linthorst GE.

Mol Genet Metab. 2015 Feb;114(2):242-7. doi: 10.1016/j.ymgme.2014.08.007. Epub 2014 Aug 20.


High prevalence of primary adrenal insufficiency in Zellweger spectrum disorders.

Berendse K, Engelen M, Linthorst GE, van Trotsenburg AS, Poll-The BT.

Orphanet J Rare Dis. 2014 Sep 2;9:133. doi: 10.1186/s13023-014-0133-5.


Diagnostic dilemmas in Fabry disease: a case series study on GLA mutations of unknown clinical significance.

Smid BE, Hollak CE, Poorthuis BJ, van den Bergh Weerman MA, Florquin S, Kok WE, Lekanne Deprez RH, Timmermans J, Linthorst GE.

Clin Genet. 2015 Aug;88(2):161-6. doi: 10.1111/cge.12449. Epub 2014 Sep 5.


Rhabdomyolysis: review of the literature.

Zutt R, van der Kooi AJ, Linthorst GE, Wanders RJ, de Visser M.

Neuromuscul Disord. 2014 Aug;24(8):651-9. doi: 10.1016/j.nmd.2014.05.005. Epub 2014 May 21. Review.


Natural course of Fabry disease and the effectiveness of enzyme replacement therapy: a systematic review and meta-analysis: effectiveness of ERT in different disease stages.

Rombach SM, Smid BE, Linthorst GE, Dijkgraaf MG, Hollak CE.

J Inherit Metab Dis. 2014 May;37(3):341-52. doi: 10.1007/s10545-014-9677-8. Epub 2014 Feb 4. Review.


[Complaint to the disciplinary board about a resident].

Linthorst GE, Lauw FN, Hanekamp LA, Hoekstra JB.

Ned Tijdschr Geneeskd. 2014;158(3):A6464. Dutch.


Fabry disease: a rare cause of neuropathic pain.

Biegstraaten M, Linthorst GE, van Schaik IN, Hollak CE.

Curr Pain Headache Rep. 2013 Oct;17(10):365. doi: 10.1007/s11916-013-0365-4. Review.


A systematic review on screening for Fabry disease: prevalence of individuals with genetic variants of unknown significance.

van der Tol L, Smid BE, Poorthuis BJ, Biegstraaten M, Deprez RH, Linthorst GE, Hollak CE.

J Med Genet. 2014 Jan;51(1):1-9. doi: 10.1136/jmedgenet-2013-101857. Epub 2013 Aug 6. Review.


Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening.

Bouwman MG, de Ru MH, Linthorst GE, Hollak CE, Wijburg FA, van Zwieten MC.

Mol Genet Metab. 2013 Jun;109(2):201-7. doi: 10.1016/j.ymgme.2013.03.008. Epub 2013 Mar 21.


Long term enzyme replacement therapy for Fabry disease: effectiveness on kidney, heart and brain.

Rombach SM, Smid BE, Bouwman MG, Linthorst GE, Dijkgraaf MG, Hollak CE.

Orphanet J Rare Dis. 2013 Mar 25;8:47. doi: 10.1186/1750-1172-8-47.


Considering Fabry, but Diagnosing MPS I: Difficulties in the Diagnostic Process.

Langereis EJ, van den Berg IET, Halley DJJ, Poorthuis BJHM, Vaz FM, Wokke JHJ, Linthorst GE.

JIMD Rep. 2013;9:117-120. doi: 10.1007/8904_2012_189. Epub 2012 Oct 30.


Recommendations on reintroduction of agalsidase Beta for patients with fabry disease in europe, following a period of shortage.

Linthorst GE, Burlina AP, Cecchi F, Cox TM, Fletcher JM, Feldt-Rasmussen U, Giugliani R, Hollak CE, Houge G, Hughes D, Kantola I, Lachmann R, Lopez M, Ortiz A, Parini R, Rivera A, Rolfs A, Ramaswami U, Svarstad E, Tondel C, Tylki-Szymanska A, Vujkovac B, Waldek S, West M, Weidemann F, Mehta A.

JIMD Rep. 2013;8:51-6. doi: 10.1007/8904_2012_160. Epub 2012 Jul 14.


Cost-effectiveness of enzyme replacement therapy for Fabry disease.

Rombach SM, Hollak CE, Linthorst GE, Dijkgraaf MG.

Orphanet J Rare Dis. 2013 Feb 19;8:29. doi: 10.1186/1750-1172-8-29.


A revised home treatment algorithm for Fabry disease: influence of antibody formation.

Smid BE, Hoogendijk SL, Wijburg FA, Hollak CE, Linthorst GE.

Mol Genet Metab. 2013 Feb;108(2):132-7. doi: 10.1016/j.ymgme.2012.12.005. Epub 2012 Dec 28.


Quantification of globotriaosylsphingosine in plasma and urine of fabry patients by stable isotope ultraperformance liquid chromatography-tandem mass spectrometry.

Gold H, Mirzaian M, Dekker N, Joao Ferraz M, Lugtenburg J, Codée JD, van der Marel GA, Overkleeft HS, Linthorst GE, Groener JE, Aerts JM, Poorthuis BJ.

Clin Chem. 2013 Mar;59(3):547-56. doi: 10.1373/clinchem.2012.192138. Epub 2012 Dec 12.


Long-term effect of antibodies against infused alpha-galactosidase A in Fabry disease on plasma and urinary (lyso)Gb3 reduction and treatment outcome.

Rombach SM, Aerts JM, Poorthuis BJ, Groener JE, Donker-Koopman W, Hendriks E, Mirzaian M, Kuiper S, Wijburg FA, Hollak CE, Linthorst GE.

PLoS One. 2012;7(10):e47805. doi: 10.1371/journal.pone.0047805. Epub 2012 Oct 19.


Vascular aspects of Fabry disease in relation to clinical manifestations and elevations in plasma globotriaosylsphingosine.

Rombach SM, van den Bogaard B, de Groot E, Groener JE, Poorthuis BJ, Linthorst GE, van den Born BJ, Hollak CE, Aerts JM.

Hypertension. 2012 Oct;60(4):998-1005. doi: 10.1161/HYPERTENSIONAHA.112.195685. Epub 2012 Aug 6.


Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: disease spectrum and natural course in attenuated patients.

Hollak CE, de Sonnaville ES, Cassiman D, Linthorst GE, Groener JE, Morava E, Wevers RA, Mannens M, Aerts JM, Meersseman W, Akkerman E, Niezen-Koning KE, Mulder MF, Visser G, Wijburg FA, Lefeber D, Poorthuis BJ.

Mol Genet Metab. 2012 Nov;107(3):526-33. doi: 10.1016/j.ymgme.2012.06.015. Epub 2012 Jun 30.


What contributes to internists' willingness to disclose medical errors?

Linthorst GE, Kallimanis-King BL, Douwes Dekker I, Hoekstra JB, de Haes JC.

Neth J Med. 2012 Jun;70(5):242-8.


Prevalence of Fabry disease in TIA/stroke cohorts. What defines Fabry disease?

Linthorst GE, Ginsberg L.

Eur J Neurol. 2012 Nov;19(11):1383-4. doi: 10.1111/j.1468-1331.2012.03763.x. Epub 2012 Jun 4. No abstract available.


[Using rare disease as a research model].

Scheltema MJ, Soeters MR, Linthorst GE.

Ned Tijdschr Geneeskd. 2012;156(17):A4223. Dutch.


Prevalence of symptoms in female Fabry disease patients: a case-control survey.

Bouwman MG, Rombach SM, Schenk E, Sweeb A, Wijburg FA, Hollak CE, Linthorst GE.

J Inherit Metab Dis. 2012 Sep;35(5):891-8. doi: 10.1007/s10545-011-9447-9. Epub 2012 Mar 20.


Early cerebral manifestations in a young female with Fabry disease with skewed X-inactivation.

Bouwman MG, Rombach SM, Linthorst GE, Poorthuis BJ, Deprez RH, Aerts JM, Wijburg FA.

Clin Genet. 2011 Nov;80(5):500-2. doi: 10.1111/j.1399-0004.2011.01643.x. No abstract available.


Anti-α-galactosidase A antibody response to agalsidase beta treatment: data from the Fabry Registry.

Wilcox WR, Linthorst GE, Germain DP, Feldt-Rasmussen U, Waldek S, Richards SM, Beitner-Johnson D, Cizmarik M, Cole JA, Kingma W, Warnock DG.

Mol Genet Metab. 2012 Mar;105(3):443-9. doi: 10.1016/j.ymgme.2011.12.006. Epub 2011 Dec 14.


Clinical pathological conference: a non-Hodgkin's lymphoma patient with persistent anaemia after chemotherapy.

Hazenberg MD, Biemond BJ, Pals ST, Zumpolle CM, Schinkel CJ, Linthorst GE, Hoekstra JB, Vos JM.

Neth J Med. 2011 Oct;69(10):469-73. No abstract available.


Consequences of a global enzyme shortage of agalsidase beta in adult Dutch Fabry patients.

Smid BE, Rombach SM, Aerts JM, Kuiper S, Mirzaian M, Overkleeft HS, Poorthuis BJ, Hollak CE, Groener JE, Linthorst GE.

Orphanet J Rare Dis. 2011 Oct 31;6:69. doi: 10.1186/1750-1172-6-69.


Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation.

Warnock DG, Ortiz A, Mauer M, Linthorst GE, Oliveira JP, Serra AL, Maródi L, Mignani R, Vujkovac B, Beitner-Johnson D, Lemay R, Cole JA, Svarstad E, Waldek S, Germain DP, Wanner C; Fabry Registry.

Nephrol Dial Transplant. 2012 Mar;27(3):1042-9. doi: 10.1093/ndt/gfr420. Epub 2011 Jul 29.


Impact of growing up with Fabry disease on achievement of psychosocial milestones and quality of life.

Bouwman MG, Maurice-Stam H, Linthorst GE, Hollak CE, Wijburg FA, Grootenhuis MA.

Mol Genet Metab. 2011 Nov;104(3):308-13. doi: 10.1016/j.ymgme.2011.07.006. Epub 2011 Jul 13.


The success of a weekly medical quiz. Test-based medical education.

Lauw MN, Hoekstra JB, Linthorst GE.

Neth J Med. 2011 Apr;69(4):205-6.

Supplemental Content

Loading ...
Support Center