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Items: 1 to 50 of 250

1.

"Missing mutations" in MPS I: Identification of two novel copy number variations by an IDUA-specific in house MLPA assay.

Jahic A, Günther S, Muschol N, Fossøy Stadheim B, Braaten Ø, Kjensli Hyldebrandt H, Kuiper GA, Tylee K, Wijburg FA, Beetz C.

Mol Genet Genomic Med. 2019 Sep;7(9):e00615. doi: 10.1002/mgg3.615. Epub 2019 Jul 18.

2.

Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.

Clarke LA, Giugliani R, Guffon N, Jones SA, Keenan HA, Munoz-Rojas MV, Okuyama T, Viskochil D, Whitley CB, Wijburg FA, Muenzer J.

Clin Genet. 2019 Oct;96(4):281-289. doi: 10.1111/cge.13583. Epub 2019 Jul 2.

PMID:
31194252
3.

Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.

Ramaswami U, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini CM, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymanska A, Bénichou B, Wijburg FA.

Mol Genet Metab. 2019 May;127(1):86-94. doi: 10.1016/j.ymgme.2019.03.010. Epub 2019 Apr 3.

4.

Impact of newborn screening for very-long-chain acyl-CoA dehydrogenase deficiency on genetic, enzymatic, and clinical outcomes.

Bleeker JC, Kok IL, Ferdinandusse S, van der Pol WL, Cuppen I, Bosch AM, Langeveld M, Derks TGJ, Williams M, de Vries M, Mulder MF, Gozalbo ER, de Sain-van der Velden MGM, Rennings AJ, Schielen PJCI, Dekkers E, Houtkooper RH, Waterham HR, Pras-Raves ML, Wanders RJA, van Hasselt PM, Schoenmakers M, Wijburg FA, Visser G.

J Inherit Metab Dis. 2019 May;42(3):414-423. doi: 10.1002/jimd.12075. Epub 2019 Apr 8.

PMID:
30761551
5.

Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.

Bleeker JC, Kok IL, Ferdinandusse S, de Vries M, Derks TGJ, Mulder MF, Williams M, Gozalbo ER, Bosch AM, van den Hurk DT, de Sain-van der Velden MGM, Waterham HR, Wijburg FA, Visser G.

J Inherit Metab Dis. 2019 Jan;42(1):159-168. doi: 10.1002/jimd.12037.

PMID:
30740737
6.

Cardiac disease in mucopolysaccharidosis type III.

Nijmeijer SCM, de Bruin-Bon RHACM, Wijburg FA, Kuipers IM.

J Inherit Metab Dis. 2019 Mar;42(2):276-285. doi: 10.1002/jimd.12015. Epub 2019 Jan 22.

PMID:
30671988
7.

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure.

Kuiper GA, Langereis EJ, Breyer S, Carbone M, Castelein RM, Eastwood DM, Garin C, Guffon N, van Hasselt PM, Hensman P, Jones SA, Kenis V, Kruyt M, van der Lee JH, Mackenzie WG, Orchard PJ, Oxborrow N, Parini R, Robinson A, Schubert Hjalmarsson E, White KK, Wijburg FA.

Orphanet J Rare Dis. 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. Review.

8.

Attitudes of the general population towards preconception expanded carrier screening for autosomal recessive disorders including inborn errors of metabolism.

Nijmeijer SCM, Conijn T, Lakeman P, Henneman L, Wijburg FA, Haverman L.

Mol Genet Metab. 2019 Jan;126(1):14-22. doi: 10.1016/j.ymgme.2018.12.004. Epub 2018 Dec 10.

PMID:
30563741
9.

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial.

Wijburg FA, Whitley CB, Muenzer J, Gasperini S, Del Toro M, Muschol N, Cleary M, Sevin C, Shapiro E, Bhargava P, Kerr D, Alexanderian D.

Mol Genet Metab. 2019 Feb;126(2):121-130. doi: 10.1016/j.ymgme.2018.10.006. Epub 2018 Oct 24.

10.

Psychosocial Functioning in Parents of MPS III Patients.

Conijn T, Nijmeijer SCM, van Oers HA, Wijburg FA, Haverman L.

JIMD Rep. 2019;44:33-41. doi: 10.1007/8904_2018_119. Epub 2018 Jul 7.

11.

Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle.

Knottnerus SJG, Bleeker JC, Wüst RCI, Ferdinandusse S, IJlst L, Wijburg FA, Wanders RJA, Visser G, Houtkooper RH.

Rev Endocr Metab Disord. 2018 Mar;19(1):93-106. doi: 10.1007/s11154-018-9448-1. Review.

12.

Easy-to-use algorithm would provide faster diagnoses for mucopolysaccharidosis type I and enable patients to receive earlier treatment.

Tylki-Szymańska A, De Meirleir L, Di Rocco M, Fathalla WM, Guffon N, Lampe C, Lund AM, Parini R, Wijburg FA, Zeman J, Scarpa M.

Acta Paediatr. 2018 Aug;107(8):1402-1408. doi: 10.1111/apa.14417.

13.

Failure to shorten the diagnostic delay in two ultra-orphan diseases (mucopolysaccharidosis types I and III): potential causes and implications.

Kuiper GA, Meijer OLM, Langereis EJ, Wijburg FA.

Orphanet J Rare Dis. 2018 Jan 8;13(1):2. doi: 10.1186/s13023-017-0733-y.

14.

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
15.

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul;41(4):741-742. doi: 10.1007/s10545-017-0116-5.

PMID:
29234995
16.

Prediction of phenotypic severity in mucopolysaccharidosis type IIIA.

Knottnerus SJG, Nijmeijer SCM, IJlst L, Te Brinke H, van Vlies N, Wijburg FA.

Ann Neurol. 2017 Nov;82(5):686-696. doi: 10.1002/ana.25069. Epub 2017 Oct 26.

17.

High-Throughput Screen Fails to Identify Compounds That Enhance Residual Enzyme Activity of Mutant N-Acetyl-α-Glucosaminidase in Mucopolysaccharidosis Type IIIB.

Meijer OLM, van den Biggelaar P, Ofman R, Wijburg FA, van Vlies N.

JIMD Rep. 2018;39:97-106. doi: 10.1007/8904_2017_51. Epub 2017 Aug 24.

18.

Processing of mutant N-acetyl-α-glucosaminidase in mucopolysaccharidosis type IIIB fibroblasts cultured at low temperature.

Meijer OLM, Te Brinke H, Ofman R, IJlst L, Wijburg FA, van Vlies N.

Mol Genet Metab. 2017 Sep;122(1-2):100-106. doi: 10.1016/j.ymgme.2017.07.005. Epub 2017 Jul 12.

PMID:
28751108
19.

Severe Fat Accumulation in Multiple Organs in Pediatric Autopsies: An Uncommon but Significant Finding.

Bleeker JC, Visser G, Wijburg FA, Ferdinandusse S, Waterham HR, Nikkels PGJ.

Pediatr Dev Pathol. 2017 Jul-Aug;20(4):269-276. doi: 10.1177/1093526617691708. Epub 2017 Feb 6.

PMID:
28727970
20.

Incomplete biomarker response in mucopolysaccharidosis type I after successful hematopoietic cell transplantation.

Kuiper GA, van Hasselt PM, Boelens JJ, Wijburg FA, Langereis EJ.

Mol Genet Metab. 2017 Sep;122(1-2):86-91. doi: 10.1016/j.ymgme.2017.05.009. Epub 2017 May 18.

PMID:
28684085
21.

Lipid-induced endoplasmic reticulum stress in X-linked adrenoleukodystrophy.

van de Beek MC, Ofman R, Dijkstra I, Wijburg F, Engelen M, Wanders R, Kemp S.

Biochim Biophys Acta Mol Basis Dis. 2017 Sep;1863(9):2255-2265. doi: 10.1016/j.bbadis.2017.06.003. Epub 2017 Jun 27.

22.

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.

23.

Cognitive endpoints for therapy development for neuronopathic mucopolysaccharidoses: Results of a consensus procedure.

van der Lee JH, Morton J, Adams HR, Clarke L, Ebbink BJ, Escolar ML, Giugliani R, Harmatz P, Hogan M, Jones S, Kearney S, Muenzer J, Rust S, Semrud-Clikeman M, Wijburg FA, Yu ZF, Janzen D, Shapiro E.

Mol Genet Metab. 2017 Jun;121(2):70-79. doi: 10.1016/j.ymgme.2017.05.004. Epub 2017 May 6.

24.

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
25.

Nine years of newborn screening for classical galactosemia in the Netherlands: Effectiveness of screening methods, and identification of patients with previously unreported phenotypes.

Welling L, Boelen A, Derks TG, Schielen PC, de Vries M, Williams M, Wijburg FA, Bosch AM.

Mol Genet Metab. 2017 Mar;120(3):223-228. doi: 10.1016/j.ymgme.2016.12.012. Epub 2016 Dec 29.

PMID:
28065439
26.

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.

27.

Newborn Screening for Lysosomal Storage Disorders: Quo Vadis?

Peake RW, Marsden DL, Bodamer OA, Gelb MH, Millington DS, Wijburg F.

Clin Chem. 2016 Nov;62(11):1430-1438. Epub 2016 Sep 14. No abstract available.

28.

Occurrence of subdural hematomas in Dutch glutaric aciduria type 1 patients.

Vester ME, Visser G, Wijburg FA, van Spronsen FJ, Williams M, van Rijn RR.

Eur J Pediatr. 2016 Jul;175(7):1001-6. doi: 10.1007/s00431-016-2734-6. Epub 2016 May 31.

29.

A phase 1/2 study of intrathecal heparan-N-sulfatase in patients with mucopolysaccharidosis IIIA.

Jones SA, Breen C, Heap F, Rust S, de Ruijter J, Tump E, Marchal JP, Pan L, Qiu Y, Chung JK, Nair N, Haslett PA, Barbier AJ, Wijburg FA.

Mol Genet Metab. 2016 Jul;118(3):198-205. doi: 10.1016/j.ymgme.2016.05.006. Epub 2016 May 10.

30.

Altered interaction and distribution of glycosaminoglycans and growth factors in mucopolysaccharidosis type I bone disease.

Kingma SDK, Wagemans T, IJlst L, Bronckers ALJJ, van Kuppevelt TH, Everts V, Wijburg FA, van Vlies N.

Bone. 2016 Jul;88:92-100. doi: 10.1016/j.bone.2016.01.029. Epub 2016 Apr 19.

PMID:
27105565
31.

Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation.

Langereis EJ, den Os MM, Breen C, Jones SA, Knaven OC, Mercer J, Miller WP, Kelly PM, Kennedy J, Ketterl TG, O'Meara A, Orchard PJ, Lund TC, van Rijn RR, Sakkers RJ, White KK, Wijburg FA.

J Bone Joint Surg Am. 2016 Mar 2;98(5):386-95. doi: 10.2106/JBJS.O.00601.

PMID:
26935461
32.

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy.

Byrne S, Jansen L, U-King-Im JM, Siddiqui A, Lidov HG, Bodi I, Smith L, Mein R, Cullup T, Dionisi-Vici C, Al-Gazali L, Al-Owain M, Bruwer Z, Al Thihli K, El-Garhy R, Flanigan KM, Manickam K, Zmuda E, Banks W, Gershoni-Baruch R, Mandel H, Dagan E, Raas-Rothschild A, Barash H, Filloux F, Creel D, Harris M, Hamosh A, Kölker S, Ebrahimi-Fakhari D, Hoffmann GF, Manchester D, Boyer PJ, Manzur AY, Lourenco CM, Pilz DT, Kamath A, Prabhakar P, Rao VK, Rogers RC, Ryan MM, Brown NJ, McLean CA, Said E, Schara U, Stein A, Sewry C, Travan L, Wijburg FA, Zenker M, Mohammed S, Fanto M, Gautel M, Jungbluth H.

Brain. 2016 Mar;139(Pt 3):765-81. doi: 10.1093/brain/awv393.

33.

Residual N-acetyl-α-glucosaminidase activity in fibroblasts correlates with disease severity in patients with mucopolysaccharidosis type IIIB.

Meijer OLM, Welling L, Valstar MJ, Hoefsloot LH, Brüggenwirth HT, van der Ploeg AT, Ruijter GJG, Wagemans T, Wijburg FA, van Vlies N.

J Inherit Metab Dis. 2016 May;39(3):437-445. doi: 10.1007/s10545-016-9916-2. Epub 2016 Feb 23.

34.

Impact of age at onset and newborn screening on outcome in organic acidurias.

Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2016 May;39(3):341-353. doi: 10.1007/s10545-015-9907-8. Epub 2015 Dec 21. Erratum in: J Inherit Metab Dis. 2017 Dec 12;:.

PMID:
26689403
35.

The Newborn Screening Paradox: Sensitivity vs. Overdiagnosis in VLCAD Deficiency.

Diekman E, de Sain-van der Velden M, Waterham H, Kluijtmans L, Schielen P, van Veen EB, Ferdinandusse S, Wijburg F, Visser G.

JIMD Rep. 2016;27:101-6. doi: 10.1007/8904_2015_476. Epub 2015 Oct 10.

36.

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses.

Langereis EJ, Wagemans T, Kulik W, Lefeber DJ, van Lenthe H, Oussoren E, van der Ploeg AT, Ruijter GJ, Wevers RA, Wijburg FA, van Vlies N.

PLoS One. 2015 Sep 25;10(9):e0138622. doi: 10.1371/journal.pone.0138622. eCollection 2015.

37.

Gonadal steroids, gonadotropins and DHEAS in young adults with familial hypercholesterolemia who had initiated statin therapy in childhood.

Braamskamp MJ, Kusters DM, Wiegman A, Avis HJ, Wijburg FA, Kastelein JJ, van Trotsenburg AS, Hutten BA.

Atherosclerosis. 2015 Aug;241(2):427-32. doi: 10.1016/j.atherosclerosis.2015.05.034. Epub 2015 Jun 3.

PMID:
26079405
38.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Cazorla AG.

J Inherit Metab Dis. 2015 Nov;38(6):1157-8. doi: 10.1007/s10545-015-9868-y. No abstract available.

PMID:
26077421
39.

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Cazorla AG, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1155-6. doi: 10.1007/s10545-015-9867-z. No abstract available.

PMID:
26077420
40.

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening.

Kingma SD, Bodamer OA, Wijburg FA.

Best Pract Res Clin Endocrinol Metab. 2015 Mar;29(2):145-57. doi: 10.1016/j.beem.2014.08.004. Epub 2014 Aug 26. Review.

PMID:
25987169
41.

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Wijburg FA, Bénichou B, Bichet DG, Clarke LA, Dostalova G, Fainboim A, Fellgiebel A, Forcelini C, An Haack K, Hopkin RJ, Mauer M, Najafian B, Scott CR, Shankar SP, Thurberg BL, Tøndel C, Tylki-Szymańska A, Ramaswami U.

PLoS One. 2015 May 8;10(5):e0124987. doi: 10.1371/journal.pone.0124987. eCollection 2015.

42.

Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome.

Pal AR, Langereis EJ, Saif MA, Mercer J, Church HJ, Tylee KL, Wynn RF, Wijburg FA, Jones SA, Bruce IA, Bigger BW.

Orphanet J Rare Dis. 2015 Apr 10;10:42. doi: 10.1186/s13023-015-0255-4.

43.

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.

44.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, Rasmussen MB, Burgard P, Chabrol B, Chakrapani A, Chapman K, Cortès I Saladelafont E, Couce ML, de Meirleir L, Dobbelaere D, Furlan F, Gleich F, González MJ, Gradowska W, Grünewald S, Honzik T, Hörster F, Ioannou H, Jalan A, Häberle J, Haege G, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, Murphy E, de Baulny HO, Ortez C, Pedrón CC, Pintos-Morell G, Pena-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Lund AM, Garcia-Cazorla A.

J Inherit Metab Dis. 2015 Nov;38(6):1059-74. doi: 10.1007/s10545-015-9840-x. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1157-8. Garcia Cazorla, Angeles [corrected to Garcia-Cazorla, Angeles].

PMID:
25875216
45.

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Kölker S, Garcia-Cazorla A, Valayannopoulos V, Lund AM, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Barić I, Karall D, Augoustides-Savvopoulou P, Aksglaede L, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Chabrol B, Chakrapani A, Chapman K, I Saladelafont EC, Couce ML, de Meirleir L, Dobbelaere D, Dvorakova V, Furlan F, Gleich F, Gradowska W, Grünewald S, Jalan A, Häberle J, Haege G, Lachmann R, Laemmle A, Langereis E, de Lonlay P, Martinelli D, Matsumoto S, Mühlhausen C, de Baulny HO, Ortez C, Peña-Quintana L, Ramadža DP, Rodrigues E, Scholl-Bürgi S, Sokal E, Staufner C, Summar ML, Thompson N, Vara R, Pinera IV, Walter JH, Williams M, Burgard P.

J Inherit Metab Dis. 2015 Nov;38(6):1041-57. doi: 10.1007/s10545-015-9839-3. Epub 2015 Apr 15. Erratum in: J Inherit Metab Dis. 2015 Nov;38(6):1155-6. Cazorla, Angeles Garcia [corrected to Garcia-Cazorla, Angeles].

PMID:
25875215
46.

Adverse Effects of Genistein in a Mucopolysaccharidosis Type I Mouse Model.

Kingma SD, Wagemans T, IJlst L, Seppen J, Gijbels MJ, Wijburg FA, van Vlies N.

JIMD Rep. 2015;23:77-83. doi: 10.1007/8904_2015_432. Epub 2015 Apr 9.

47.

Fatty acid oxidation flux predicts the clinical severity of VLCAD deficiency.

Diekman EF, Ferdinandusse S, van der Pol L, Waterham HR, Ruiter JP, Ijlst L, Wanders RJ, Houten SM, Wijburg FA, Blank AC, Asselbergs FW, Houtkooper RH, Visser G.

Genet Med. 2015 Dec;17(12):989-94. doi: 10.1038/gim.2015.22. Epub 2015 Apr 2.

PMID:
25834949
48.

Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines.

Aldenhoven M, Jones SA, Bonney D, Borrill RE, Coussons M, Mercer J, Bierings MB, Versluys B, van Hasselt PM, Wijburg FA, van der Ploeg AT, Wynn RF, Boelens JJ.

Biol Blood Marrow Transplant. 2015 Jun;21(6):1106-9. doi: 10.1016/j.bbmt.2015.02.011. Epub 2015 Feb 20.

49.

Long-term statin treatment in children with familial hypercholesterolemia: more insight into tolerability and adherence.

Braamskamp MJ, Kusters DM, Avis HJ, Smets EM, Wijburg FA, Kastelein JJ, Wiegman A, Hutten BA.

Paediatr Drugs. 2015 Apr;17(2):159-66. doi: 10.1007/s40272-014-0116-y.

50.

Longitudinal analysis of endurance and respiratory function from a natural history study of Morquio A syndrome.

Harmatz PR, Mengel KE, Giugliani R, Valayannopoulos V, Lin SP, Parini R, Guffon N, Burton BK, Hendriksz CJ, Mitchell JJ, Martins AM, Jones SA, Guelbert N, Vellodi A, Wijburg FA, Yang K, Slasor P, Decker C.

Mol Genet Metab. 2015 Feb;114(2):186-94. doi: 10.1016/j.ymgme.2014.10.015. Epub 2014 Nov 1.

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