- Home
- Publications
- Publication Search
- Publication Details
Title
Open issues in Mucopolysaccharidosis type I-Hurler
Authors
Keywords
Mucopolysaccharidosis I, Hurler, Allogeneic hematopoietic stem cell transplantation, Enzyme replacement therapy, Metabolic disorder, Lysosomal storage
Journal
Orphanet Journal of Rare Diseases
Volume 12, Issue 1, Pages -
Publisher
Springer Nature
Online
2017-06-16
DOI
10.1186/s13023-017-0662-9
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Progression of Hip Dysplasia in Mucopolysaccharidosis Type I Hurler After Successful Hematopoietic Stem Cell Transplantation
- (2016) Eveline J. Langereis et al. JOURNAL OF BONE AND JOINT SURGERY-AMERICAN VOLUME
- Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10year combined experience of 2 centres
- (2016) Arunabha Ghosh et al. MOLECULAR GENETICS AND METABOLISM
- Pseudodeficiency of alpha-iduronidase is a common finding identified from newborn screening in the state of Illinois
- (2016) Katherine G. Keating et al. MOLECULAR GENETICS AND METABOLISM
- Neurodevelopmental Outcome after Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Current Considerations and Future Perspectives
- (2016) Peter van Hasselt et al. NEUROPEDIATRICS
- Hematopoietic Cell Transplantation for Mucopolysaccharidosis Patients Is Safe and Effective: Results after Implementation of International Guidelines
- (2015) Mieke Aldenhoven et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
- Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study
- (2015) M. Aldenhoven et al. BLOOD
- Early treatment is associated with improved cognition in Hurler syndrome
- (2014) Michele D. Poe et al. ANNALS OF NEUROLOGY
- Neonatal bone marrow transplantation prevents bone pathology in a mouse model of mucopolysaccharidosis type I
- (2014) A. Pievani et al. BLOOD
- Transplantation in inborn errors of metabolism: current considerations and future perspectives
- (2014) Jaap Jan Boelens et al. BRITISH JOURNAL OF HAEMATOLOGY
- Residual α-l-iduronidase activity in fibroblasts of mild to severe Mucopolysaccharidosis type I patients
- (2013) Esmee Oussoren et al. MOLECULAR GENETICS AND METABOLISM
- Early initiation of enzyme replacement therapy for the mucopolysaccharidoses
- (2013) Joseph Muenzer MOLECULAR GENETICS AND METABOLISM
- An algorithm to predict phenotypic severity in mucopolysaccharidosis type I in the first month of life
- (2013) Sandra DK Kingma et al. Orphanet Journal of Rare Diseases
- Treatment of hip dysplasia in patients with mucopolysaccharidosis type I after hematopoietic stem cell transplantation: results of an international consensus procedure
- (2013) Eveline J Langereis et al. Orphanet Journal of Rare Diseases
- Lentiviral Hematopoietic Stem Cell Gene Therapy Benefits Metachromatic Leukodystrophy
- (2013) A. Biffi et al. SCIENCE
- Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapy
- (2012) M. A. Saif et al. HAEMATOLOGICA
- Anaesthesia and airway management in mucopolysaccharidosis
- (2012) Robert Walker et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Management of mucopolysaccharidosis type IH (Hurler’s syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution’s experience
- (2012) Daniel H. Wiseman et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Enzyme Replacement is Associated with Better Cognitive Outcomes after Transplant in Hurler Syndrome
- (2012) Julie B. Eisengart et al. JOURNAL OF PEDIATRICS
- Brain conditioning is instrumental for successful microglia reconstitution following hematopoietic stem cell transplantation
- (2012) A. Capotondo et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
- (2011) Francesca Bertola et al. HUMAN MUTATION
- Orthopaedic management of Hurler’s disease after hematopoietic stem cell transplantation: a systematic review
- (2011) Marleen H. van der Linden et al. JOURNAL OF INHERITED METABOLIC DISEASE
- The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome)
- (2011) Elke Miebach et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Enzyme Replacement Therapy and/or Hematopoietic Stem Cell Transplantation at diagnosis in patients with Mucopolysaccharidosis type I: results of a European consensus procedure
- (2011) Minke H de Ru et al. Orphanet Journal of Rare Diseases
- Laronidase for Cardiopulmonary Disease in Hurler Syndrome 12 Years After Bone Marrow Transplantation
- (2010) V. Valayannopoulos et al. PEDIATRICS
- Fate Mapping Analysis Reveals That Adult Microglia Derive from Primitive Macrophages
- (2010) F. Ginhoux et al. SCIENCE
- Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy
- (2009) Robert F. Wynn et al. JOURNAL OF PEDIATRICS
- The Clinical Outcome of Hurler Syndrome after Stem Cell Transplantation
- (2008) Mieke Aldenhoven et al. BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION
- Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I
- (2008) S. Blanchard et al. CLINICAL CHEMISTRY
- Use of Enzyme Replacement Therapy (Laronidase) before Hematopoietic Stem Cell Transplantation for Mucopolysaccharidosis I: Experience in 18 Patients
- (2008) Robert F. Wynn et al. JOURNAL OF PEDIATRICS
- Long-term Efficacy and Safety of Laronidase in the Treatment of Mucopolysaccharidosis I
- (2008) L. A. Clarke et al. PEDIATRICS
- Mucopolysaccharidosis I: Management and Treatment Guidelines
- (2008) J. Muenzer et al. PEDIATRICS
Find Funding. Review Successful Grants.
Explore over 25,000 new funding opportunities and over 6,000,000 successful grants.
ExploreFind the ideal target journal for your manuscript
Explore over 38,000 international journals covering a vast array of academic fields.
Search