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International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up.
Welling L, Bernstein LE, Berry GT, Burlina AB, Eyskens F, Gautschi M, Grünewald S, Gubbels CS, Knerr I, Labrune P, van der Lee JH, MacDonald A, Murphy E, Portnoi PA, Õunap K, Potter NL, Rubio-Gozalbo ME, Spencer JB, Timmers I, Treacy EP, Van Calcar SC, Waisbren SE, Bosch AM; Galactosemia Network (GalNet). Welling L, et al. Among authors: van calcar sc, van der lee jh. J Inherit Metab Dis. 2017 Mar;40(2):171-176. doi: 10.1007/s10545-016-9990-5. Epub 2016 Nov 17. J Inherit Metab Dis. 2017. PMID: 27858262 Free PMC article. Review.
Deep phenotyping classical galactosemia: clinical outcomes and biochemical markers.
Welsink-Karssies MM, Ferdinandusse S, Geurtsen GJ, Hollak CEM, Huidekoper HH, Janssen MCH, Langendonk JG, van der Lee JH, O'Flaherty R, Oostrom KJ, Roosendaal SD, Rubio-Gozalbo ME, Saldova R, Treacy EP, Vaz FM, de Vries MC, Engelen M, Bosch AM. Welsink-Karssies MM, et al. Among authors: van der lee jh. Brain Commun. 2020 Jan 29;2(1):fcaa006. doi: 10.1093/braincomms/fcaa006. eCollection 2020. Brain Commun. 2020. PMID: 32954279 Free PMC article.
Bone mineral density is within normal range in most adult phenylketonuria patients.
Lubout CMA, Arrieta Blanco F, Bartosiewicz K, Feillet F, Gizewska M, Hollak C, van der Lee JH, Maillot F, Stepien KM, Wagenmakers MAEM, Welsink-Karssies MM, van Spronsen FJ, Bosch AM. Lubout CMA, et al. Among authors: van spronsen fj, van der lee jh. J Inherit Metab Dis. 2020 Mar;43(2):251-258. doi: 10.1002/jimd.12177. Epub 2020 Feb 6. J Inherit Metab Dis. 2020. PMID: 31587319 Free PMC article.
Capturing phenotypic heterogeneity in MPS I: results of an international consensus procedure.
de Ru MH, Teunissen QG, van der Lee JH, Beck M, Bodamer OA, Clarke LA, Hollak CE, Lin SP, Rojas MV, Pastores GM, Raiman JA, Scarpa M, Treacy EP, Tylki-Szymanska A, Wraith JE, Zeman J, Wijburg FA. de Ru MH, et al. Among authors: van der lee jh. Orphanet J Rare Dis. 2012 Apr 23;7:22. doi: 10.1186/1750-1172-7-22. Orphanet J Rare Dis. 2012. PMID: 22524701 Free PMC article.
Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure.
Langereis EJ, Borgo A, Crushell E, Harmatz PR, van Hasselt PM, Jones SA, Kelly PM, Lampe C, van der Lee JH, Odent T, Sakkers R, Scarpa M, Schafroth MU, Struijs PA, Valayannopoulos V, White KK, Wijburg FA. Langereis EJ, et al. Among authors: van hasselt pm, van der lee jh. Orphanet J Rare Dis. 2013 Oct 3;8:155. doi: 10.1186/1750-1172-8-155. Orphanet J Rare Dis. 2013. PMID: 24088413 Free PMC article. Review.
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. Kuiper GA, et al. Among authors: van hasselt pm, van der lee jh. Orphanet J Rare Dis. 2019 Jan 18;14(1):17. doi: 10.1186/s13023-019-0997-5. Orphanet J Rare Dis. 2019. PMID: 30658664 Free PMC article. Review.
148 results