Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure

被引：0

作者：

Minke H de Ru

Jaap J Boelens

Anibh M Das

Simon A Jones

Johanna H van der Lee

Nizar Mahlaoui

Eugen Mengel

Martin Offringa

Anne O'Meara

Rossella Parini

Attilio Rovelli

Karl-Walter Sykora

Vassili Valayannopoulos

Ashok Vellodi

Robert F Wynn

Frits A Wijburg

机构：

[1] University of Amsterdam,Department of Pediatrics and Amsterdam Lysosome Center 'Sphinx', Academic Medical Center

[2] University Medical Center Utrecht,Department of Pediatrics, Pediatric Blood and Marrow Transplantation Program

[3] Hannover Medical School,Department of Pediatrics, Clinic for Kidney

[4] University of Manchester,, Liver

[5] Central Manchester University Hospitals NHS Foundation Trust, and Metabolic diseases

[6] St Mary's Hospital,Genetic Medicine, Manchester Academic Health Science Centre

[7] University of Amsterdam,Department of Pediatric Clinical Epidemiology, Academic Medical Center

[8] Assistance Publique-Hôpitaux de Paris (AP-HP),Pediatric Immunology

[9] Children's Hospital,Hematology Unit, Necker

[10] Gutenberg-University,Enfants Malades Hospital

[11] Our Lady's Children's Hospital,Villa Metabolica

[12] San Gerardo Hospital,Department of Haematology/Oncology

[13] San Gerardo Hospital,Rare Metabolic Diseases Unit, Department of Pediatrics

[14] Hannover Medical School,Bone Marrow Transplant Unit, Department of Pediatrics

[15] Necker-Enfants Malades Hospital,Department of Pediatric Hematology/Oncology

[16] Great Ormond Street Hospital for Children NHS Trust,Reference Center for Inherited Metabolic Disorders

[17] Royal Manchester Children's Hospital,Metabolic Unit

来源：

Orphanet Journal of Rare Diseases | / 6卷

关键词：

Hematopoietic Stem Cell Transplantation; Enzyme Replacement Therapy; Central Nervous System Involvement; Expert Consensus; Planning Committee;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

共 50 条

[1] Enzyme replacement therapy and/or hematopoietic stem cell transplantation at diagnosis in patients with mucopolysaccharidosis type I: results of a European consensus procedure
de Ru, Minke H.
Boelens, Jaap J.
Das, Anibh M.
Jones, Simon A.
van der Lee, Johanna H.
Mahlaoui, Nizar
Mengel, Eugen
Offringa, Martin
O'Meara, Anne
Parini, Rossella
Rovelli, Attilio
Sykora, Karl-Walter
Valayannopoulos, Vassili
Vellodi, Ashok
Wynn, Robert F.
Wijburg, Frits A.
[J]. ORPHANET JOURNAL OF RARE DISEASES, 2011, 6
[2] Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
Langereis, Eveline J.
Borgo, Andrea
Crushell, Ellen
Harmatz, Paul R.
van Hasselt, Peter M.
Jones, Simon A.
Kelly, Paula M.
Lampe, Christina
van der Lee, Johanna H.
Odent, Thierry
Sakkers, Ralph
Scarpa, Maurizio
Schafroth, Matthias U.
Struijs, Peter A.
Valayannopoulos, Vassili
White, Klane K.
Wijburg, Frits A.
[J]. ORPHANET JOURNAL OF RARE DISEASES, 2013, 8
[3] Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
Eveline J Langereis
Andrea Borgo
Ellen Crushell
Paul R Harmatz
Peter M van Hasselt
Simon A Jones
Paula M Kelly
Christina Lampe
Johanna H van der Lee
Thierry Odent
Ralph Sakkers
Maurizio Scarpa
Matthias U Schafroth
Peter A Struijs
Vassili Valayannopoulos
Klane K White
Frits A Wijburg
[J]. Orphanet Journal of Rare Diseases, 8
[4] COMBINED ENZYME REPLACEMENT THERAPY AND HEMATOPOIETIC STEM CELL TRANSPLANTATION IN MUCOPOLYSACCHARIDOSIS I: THE MANCHESTER EXPERIENCE
Mercer, J.
Tylee, K.
Page, J.
Jones, S.
Wraith, E.
Wynn, R.
[J]. CLINICAL THERAPEUTICS, 2008, 30 : S123 - S123
[5] Hematopoietic stem cell transplantation (HSCT) and enzyme replacement therapy (ERT) in a patient with mucopolysaccharidosis type I, Hurler syndrome
McNeil, Colleen
Casey, Robin
Ferreira, Patrick
[J]. MOLECULAR GENETICS AND METABOLISM, 2007, 92 (04) : S30 - S30
[6] MUCOPOLYSACCHARIDOSIS TYPE I REPORT OF A SUCCESSFUL HEMATOPOIETIC STEM CELL TRANSPLANTATION AFTER 11 MONTHS OF ENZYME REPLACEMENT THERAPY
Bittar, C. M.
Vairo, F.
Souza, C. F. M.
Netto, C. B.
Gregianin, L.
Galvao, C.
Fagondes, S.
Giugliani, R.
[J]. JOURNAL OF INHERITED METABOLIC DISEASE, 2011, 34 : S220 - S220
[7] Use of Enzyme Replacement Therapy (Laronidase) before Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis I: Experience in 18 Patients
Wynn, Robert F.
Mercer, Jean
Page, Joanne
Carr, Trevor F.
Jones, Simon
Wraith, J. Edmond
[J]. JOURNAL OF PEDIATRICS, 2009, 154 (01): : 135 - 139
[8] Efficacy of hematopoietic stem cell transplantation versus enzyme replacement therapy on brain function in patients with mucopolysaccharidosis type II
Tanaka, Akemi
Hamazaki, Takashi
Okuyama, Torayuki
Suzuki, Yasuyuki
Sakai, Norio
Kosuga, Motomichi
Shinpo, Michiko
Yabe, Hiromasa
Ishige, Mika
Mugishima, Hideo
Tabuchi, Ken
Kato, Shunichi
[J]. MOLECULAR GENETICS AND METABOLISM, 2014, 111 (02) : S103 - S103
[9] Ultrastructural Analysis of Dermal Fibroblasts in Mucopolysaccharidosis Type I: Effects of Enzyme Replacement Therapy and Hematopoietic Cell Transplantation
Cox-Brinkman, Josanne
Weerman, Marius A. van den Bergh
Wijburg, Frits A.
Aerts, Johannes M. F. G.
Florquin, Sandrine
van der Lee, Johanna H.
Hollak, Carla E. M.
[J]. ULTRASTRUCTURAL PATHOLOGY, 2010, 34 (03) : 126 - 132
[10] Progression of organ manifestations upon enzyme replacement therapy in a patient with mucopolysaccharidosis type IH prior to hematopoietic stem cell transplantation
Mercimek-Mahmutoglu, Saadet
Lillquist, Yolanda
Davis, Jeff
Reilly, Christopher
Human, Derek
Waters, Paula J.
Paschke, Eduard
Clarke, Lorne A.
Stoeckler-Ipsiroglu, Sylvia
[J]. MOLECULAR GENETICS AND METABOLISM, 2009, 96 (02) : S31 - S31

← 1 2 3 4 5 →