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Items: 1 to 50 of 238

1.

[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.

PMID:
31120221
2.

Limited data to evaluate real-world effectiveness of enzyme replacement therapy for mucopolysaccharidosis type I.

Kuiper GA, Nijmeijer SCM, Roelofs MJM, van der Lee JH, Hollak CEM, Bosch AM.

J Inherit Metab Dis. 2019 Apr 25. doi: 10.1002/jimd.12103. [Epub ahead of print] Review.

PMID:
31020996
3.

Patients with aldolase B deficiency are characterized by an increased intrahepatic triglyceride content.

Simons N, Debray FG, Schaper NC, Kooi ME, Feskens EJM, Hollak CEM, Lindeboom L, Koek GH, Bons JAP, Lefeber DJ, Hodson L, Schalkwijk CG, Stehouwer CDA, Cassiman D, Brouwers MCGJ.

J Clin Endocrinol Metab. 2019 Mar 22. pii: jc.2018-02795. doi: 10.1210/jc.2018-02795. [Epub ahead of print]

PMID:
30901028
4.

Liposome-targeted recombinant human acid sphingomyelinase: Production, formulation, and in vitro evaluation.

Aldosari MH, de Vries RP, Rodriguez LR, Hesen NA, Beztsinna N, van Kuilenburg ABP, Hollak CEM, Schellekens H, Mastrobattista E.

Eur J Pharm Biopharm. 2019 Apr;137:185-195. doi: 10.1016/j.ejpb.2019.02.019. Epub 2019 Feb 25.

PMID:
30818011
5.

Bizarre behavior and decreased level of consciousness in an adult patient.

van Son J, Rietbroek RC, Vaz FM, Hollak CEM.

Neth J Med. 2019 Jan;77(1):25-28.

6.

Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry disease.

Körver S, Geurtsen GJ, Hollak CEM, van Schaik IN, Longo MGF, Lima MR, Vedolin L, Dijkgraaf MGW, Langeveld M.

Sci Rep. 2019 Jan 17;9(1):188. doi: 10.1038/s41598-018-37320-0.

7.

Long-term treatment effect in cerebrotendinous xanthomatosis depends on age at treatment start.

Stelten BML, Huidekoper HH, van de Warrenburg BPC, Brilstra EH, Hollak CEM, Haak HR, Kluijtmans LAJ, Wevers RA, Verrips A.

Neurology. 2019 Jan 8;92(2):e83-e95. doi: 10.1212/WNL.0000000000006731. Epub 2018 Dec 7.

PMID:
30530799
8.

Oncologic orphan drugs approved in the EU - do clinical trial data correspond with real-world effectiveness?

Schuller Y, Biegstraaten M, Hollak CEM, Klümpen HJ, Gispen-de Wied CC, Stoyanova-Beninska V.

Orphanet J Rare Dis. 2018 Nov 28;13(1):214. doi: 10.1186/s13023-018-0900-9.

9.

Antibodies against recombinant alpha-galactosidase A in Fabry disease: Subclass analysis and impact on response to treatment.

van der Veen SJ, van Kuilenburg ABP, Hollak CEM, Kaijen PHP, Voorberg J, Langeveld M.

Mol Genet Metab. 2019 Feb;126(2):162-168. doi: 10.1016/j.ymgme.2018.11.008. Epub 2018 Nov 17.

PMID:
30473480
10.

Saposin C is a frequent target of paraproteins in Gaucher disease-associated MGUS/multiple myeloma.

Preuss KD, Hollak CEM, Fadle N, van Oers M, Regitz E, Pfreundschuh M.

Br J Haematol. 2019 Feb;184(3):384-391. doi: 10.1111/bjh.15659. Epub 2018 Nov 18.

PMID:
30450574
11.

Development and clinical consequences of white matter lesions in Fabry disease: a systematic review.

Körver S, Vergouwe M, Hollak CEM, van Schaik IN, Langeveld M.

Mol Genet Metab. 2018 Nov;125(3):205-216. doi: 10.1016/j.ymgme.2018.08.014. Epub 2018 Sep 5. Review.

PMID:
30213639
12.

Bone health in patients with inborn errors of metabolism.

Langeveld M, Hollak CEM.

Rev Endocr Metab Disord. 2018 Mar;19(1):81-92. doi: 10.1007/s11154-018-9460-5. Review.

13.

Dose-Finding Studies Among Orphan Drugs Approved in the EU: A Retrospective Analysis.

Schuller Y, Gispen-de Wied C, Hollak CEM, Leufkens HGM, Stoyanova-Beninska V.

J Clin Pharmacol. 2019 Feb;59(2):229-244. doi: 10.1002/jcph.1304. Epub 2018 Sep 7.

PMID:
30192386
14.

Can untreated PKU patients escape from intellectual disability? A systematic review.

van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ.

Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7.

15.

Improvement in bone marrow infiltration in patients with type I Gaucher disease treated with taliglucerase alfa.

Zimran A, Dinur T, Revel-Vilk S, Akkerman EM, van Dussen L, Hollak CEM, Maayan H, Altarescu G, Chertkoff R, Maas M.

J Inherit Metab Dis. 2018 Nov;41(6):1259-1265. doi: 10.1007/s10545-018-0195-y. Epub 2018 Jul 31.

16.

Outrageous prices of orphan drugs: a call for collaboration.

Luzzatto L, Hyry HI, Schieppati A, Costa E, Simoens S, Schaefer F, Roos JCP, Merlini G, Kääriäinen H, Garattini S, Hollak CE, Remuzzi G; Second Workshop on Orphan Drugs participants.

Lancet. 2018 Sep 1;392(10149):791-794. doi: 10.1016/S0140-6736(18)31069-9. Epub 2018 Jul 20. No abstract available.

PMID:
30037734
17.

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
18.

The need for additional care in patients with classical galactosaemia.

Welling L, Meester-Delver A, Derks TG, Janssen MCH, Hollak CEM, de Vries M, Bosch AM.

Disabil Rehabil. 2018 May 31:1-6. doi: 10.1080/09638288.2018.1475514. [Epub ahead of print]

PMID:
29852795
19.

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.

20.

Adaptive pathway development for Fabry disease: a clinical approach.

Schuller Y, Arends M, Körver S, Langeveld M, Hollak CEM.

Drug Discov Today. 2018 Jun;23(6):1251-1257. doi: 10.1016/j.drudis.2018.02.004. Epub 2018 Feb 15. Review.

21.

Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.

Arends M, Biegstraaten M, Wanner C, Sirrs S, Mehta A, Elliott PM, Oder D, Watkinson OT, Bichet DG, Khan A, Iwanochko M, Vaz FM, van Kuilenburg ABP, West ML, Hughes DA, Hollak CEM.

J Med Genet. 2018 May;55(5):351-358. doi: 10.1136/jmedgenet-2017-104863. Epub 2018 Feb 7.

22.

Hepatocellular carcinoma in Gaucher disease: an international case series.

Regenboog M, van Dussen L, Verheij J, Weinreb NJ, Santosa D, Vom Dahl S, Häussinger D, Müller MN, Canbay A, Rigoldi M, Piperno A, Dinur T, Zimran A, Mistry PK, Salah KY, Belmatoug N, Kuter DJ, Hollak CEM.

J Inherit Metab Dis. 2018 Sep;41(5):819-827. doi: 10.1007/s10545-018-0142-y. Epub 2018 Feb 8.

23.

Slowly Progressive Psychiatric Symptoms: Think Metachromatic Leukodystrophy.

van Rappard DF, de Vries ALC, Oostrom KJ, Boelens JJ, Hollak CEM, van der Knaap MS, Wolf NI.

J Am Acad Child Adolesc Psychiatry. 2018 Feb;57(2):74-76. doi: 10.1016/j.jaac.2017.11.017. No abstract available.

PMID:
29413149
24.

The role of the clinician in the multi-omics era: are you ready?

van Karnebeek CDM, Wortmann SB, Tarailo-Graovac M, Langeveld M, Ferreira CR, van de Kamp JM, Hollak CE, Wasserman WW, Waterham HR, Wevers RA, Haack TB, Wanders RJA, Boycott KM.

J Inherit Metab Dis. 2018 May;41(3):571-582. doi: 10.1007/s10545-017-0128-1. Epub 2018 Jan 23.

25.

Response to the Letter to the Editor Regarding "Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria".

Demirdas S, van Spronsen FJ, Hollak CEM, van der Lee JH, Bisschop PH, Vaz FM, Ter Horst NM, Rubio-Gozalbo ME, Bosch AM.

Ann Nutr Metab. 2018;72(1):80-81. doi: 10.1159/000486185. Epub 2018 Jan 16. No abstract available.

26.

Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature.

Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, Wijburg FA, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Zoetekouw A, Kulik W, Hollak CEM, Vaz FM.

Mol Genet Metab. 2018 Feb;123(2):76-84. doi: 10.1016/j.ymgme.2017.12.431. Epub 2017 Dec 22.

PMID:
29290526
27.

Phenotype, disease severity and pain are major determinants of quality of life in Fabry disease: results from a large multicenter cohort study.

Arends M, Körver S, Hughes DA, Mehta A, Hollak CEM, Biegstraaten M.

J Inherit Metab Dis. 2018 Jan;41(1):141-149. doi: 10.1007/s10545-017-0095-6. Epub 2017 Oct 16.

28.

Iron storage in liver, bone marrow and splenic Gaucheroma reflects residual disease in type 1 Gaucher disease patients on treatment.

Regenboog M, Bohte AE, Akkerman EM, Stoker J, Hollak CEM.

Br J Haematol. 2017 Nov;179(4):635-647. doi: 10.1111/bjh.14915. Epub 2017 Sep 14.

PMID:
28905365
29.

Issues with European guidelines for phenylketonuria.

Burgard P, Ullrich K, Ballhausen D, Hennermann JB, Hollak CEM, Langeveld M, Karall D, Konstantopoulou V, Maier EM, Lang F, Lachmann R, Murphy E, Garbade S, Hoffmann GF, Kölker S, Lindner M, Zschocke J.

Lancet Diabetes Endocrinol. 2017 Sep;5(9):681-683. doi: 10.1016/S2213-8587(17)30201-2. No abstract available.

PMID:
28842158
30.

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.

31.

Retrospective study of long-term outcomes of enzyme replacement therapy in Fabry disease: Analysis of prognostic factors.

Arends M, Biegstraaten M, Hughes DA, Mehta A, Elliott PM, Oder D, Watkinson OT, Vaz FM, van Kuilenburg ABP, Wanner C, Hollak CEM.

PLoS One. 2017 Aug 1;12(8):e0182379. doi: 10.1371/journal.pone.0182379. eCollection 2017.

32.

Factors Contributing to the Efficacy-Effectiveness Gap in the Case of Orphan Drugs for Metabolic Diseases.

Schuller Y, Hollak CEM, Gispen-de Wied CC, Stoyanova-Beninska V, Biegstraaten M.

Drugs. 2017 Sep;77(13):1461-1472. doi: 10.1007/s40265-017-0788-z.

33.

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
34.

Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuria.

Boot E, Hollak CEM, Huijbregts SCJ, Jahja R, van Vliet D, Nederveen AJ, Nieman DH, Bosch AM, Bour LJ, Bakermans AJ, Abeling NGGM, Bassett AS, van Amelsvoort TAMJ, van Spronsen FJ, Booij J.

Psychol Med. 2017 Dec;47(16):2854-2865. doi: 10.1017/S0033291717001398.

PMID:
28552082
35.

Favourable effect of early versus late start of enzyme replacement therapy on plasma globotriaosylsphingosine levels in men with classical Fabry disease.

Arends M, Wijburg FA, Wanner C, Vaz FM, van Kuilenburg ABP, Hughes DA, Biegstraaten M, Mehta A, Hollak CEM, Langeveld M.

Mol Genet Metab. 2017 Jun;121(2):157-161. doi: 10.1016/j.ymgme.2017.05.001. Epub 2017 May 4.

PMID:
28495078
36.

Micronutrients, Essential Fatty Acids and Bone Health in Phenylketonuria.

Demirdas S, van Spronsen FJ, Hollak CEM, van der Lee JH, Bisschop PH, Vaz FM, Ter Horst NM, Rubio-Gozalbo ME, Bosch AM.

Ann Nutr Metab. 2017;70(2):111-121. doi: 10.1159/000465529. Epub 2017 Mar 24.

37.

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
38.

Management goals for type 1 Gaucher disease: An expert consensus document from the European working group on Gaucher disease.

Biegstraaten M, Cox TM, Belmatoug N, Berger MG, Collin-Histed T, Vom Dahl S, Di Rocco M, Fraga C, Giona F, Giraldo P, Hasanhodzic M, Hughes DA, Iversen PO, Kiewiet AI, Lukina E, Machaczka M, Marinakis T, Mengel E, Pastores GM, Plöckinger U, Rosenbaum H, Serratrice C, Symeonidis A, Szer J, Timmerman J, Tylki-Szymańska A, Weisz Hubshman M, Zafeiriou DI, Zimran A, Hollak CEM.

Blood Cells Mol Dis. 2018 Feb;68:203-208. doi: 10.1016/j.bcmd.2016.10.008. Epub 2016 Oct 24.

39.

Classifying the additional morbidities of Gaucher disease.

Langeveld M, Elstein D, Szer J, Hollak CEM, Zimran A.

Blood Cells Mol Dis. 2018 Feb;68:209-210. doi: 10.1016/j.bcmd.2016.12.006. Epub 2016 Dec 19. No abstract available.

PMID:
28024892
40.

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.

41.

Imaging characteristics of focal splenic and hepatic lesions in type 1 Gaucher disease.

Regenboog M, Bohte AE, Somers I, van Delden OM, Maas M, Hollak CE.

Blood Cells Mol Dis. 2016 Sep;60:49-57. doi: 10.1016/j.bcmd.2016.06.009. Epub 2016 Jul 1.

42.

Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency and Perioperative Management in Adult Patients.

Welsink-Karssies MM, Polderman JAW, Nieveen van Dijkum EJ, Preckel B, Schlack WS, Visser G, Hollak CE, Hermanides J.

JIMD Rep. 2017;34:49-54. doi: 10.1007/8904_2016_6. Epub 2016 Aug 13.

43.

Assessment of plasma acylcarnitines before and after weight loss in obese subjects.

Schooneman MG, Napolitano A, Houten SM, Ambler GK, Murgatroyd PR, Miller SR, Hollak CE, Tan CY, Virtue S, Vidal-Puig A, Nunez DJ, Soeters MR.

Arch Biochem Biophys. 2016 Sep 15;606:73-80. doi: 10.1016/j.abb.2016.07.013. Epub 2016 Jul 19.

PMID:
27444119
44.

Hyperferritinemia and iron metabolism in Gaucher disease: Potential pathophysiological implications.

Regenboog M, van Kuilenburg AB, Verheij J, Swinkels DW, Hollak CE.

Blood Rev. 2016 Nov;30(6):431-437. doi: 10.1016/j.blre.2016.05.003. Epub 2016 May 27. Review.

PMID:
27265538
45.

Gallbladder and the risk of polyps and carcinoma in metachromatic leukodystrophy.

van Rappard DF, Bugiani M, Boelens JJ, van der Steeg AF, Daams F, de Meij TG, van Doorn MM, van Hasselt PM, Gouma DJ, Verbeke JI, Hollak CE, van Hecke W, Salomons GS, van der Knaap MS, Wolf NI.

Neurology. 2016 Jul 5;87(1):103-11. doi: 10.1212/WNL.0000000000002811. Epub 2016 Jun 3.

PMID:
27261095
46.

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.

47.

Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience.

van Rappard DF, Boelens JJ, van Egmond ME, Kuball J, van Hasselt PM, Oostrom KJ, Pouwels PJ, van der Knaap MS, Hollak CE, Wolf NI.

Blood. 2016 Jun 16;127(24):3098-101. doi: 10.1182/blood-2016-03-708479. Epub 2016 Apr 26. No abstract available.

48.

The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice.

Schooneman MG, Houtkooper RH, Hollak CE, Wanders RJ, Vaz FM, Soeters MR, Houten SM.

Biochim Biophys Acta. 2016 Aug;1862(8):1375-82. doi: 10.1016/j.bbadis.2016.04.012. Epub 2016 Apr 22.

49.

Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients.

Smid BE, Ferraz MJ, Verhoek M, Mirzaian M, Wisse P, Overkleeft HS, Hollak CE, Aerts JM.

Orphanet J Rare Dis. 2016 Mar 24;11:28. doi: 10.1186/s13023-016-0413-3.

50.

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.

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