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1.
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III.
Genet Med
; 23(12): 2369-2377, 2021 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34341521
2.
Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison.
Genet Med
; 20(11): 1423-1429, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-29517765
3.
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Hum Mutat
; 38(11): 1555-1568, 2017 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-28752568
4.
Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation.
J Inherit Metab Dis
; 40(3): 455-460, 2017 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-28283844
5.
Enzyme replacement therapy prior to haematopoietic stem cell transplantation in Mucopolysaccharidosis Type I: 10 year combined experience of 2 centres.
Mol Genet Metab
; 117(3): 373-7, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26832957
6.
Outcomes of Long-Term Treatment with Laronidase in Patients with Mucopolysaccharidosis Type I.
J Pediatr
; 178: 219-226.e1, 2016 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-27788836
7.
Hematopoietic cell transplantation for mucopolysaccharidosis patients is safe and effective: results after implementation of international guidelines.
Biol Blood Marrow Transplant
; 21(6): 1106-9, 2015 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-25708213
8.
Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy.
Mol Genet Metab
; 114(2): 129-37, 2015 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-25467058
9.
Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings.
Mol Genet Metab
; 109(3): 315-6, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23721889
10.
Management of mucopolysaccharidosis type IH (Hurler's syndrome) presenting in infancy with severe dilated cardiomyopathy: a single institution's experience.
J Inherit Metab Dis
; 36(2): 263-70, 2013 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-22718273
11.
Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler's syndrome after pharmacological enzyme replacement therapy.
Haematologica
; 97(9): 1320-8, 2012 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-22371174
12.
The craniocervical junction following successful haematopoietic stem cell transplantation for mucopolysaccharidosis type I H (Hurler syndrome).
J Inherit Metab Dis
; 34(3): 755-61, 2011 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-21416193
13.
Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H).
J Inherit Metab Dis
; 34(2): 489-97, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21253827
14.
Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases.
J Inherit Metab Dis
; 34(2): 499-508, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21170681
15.
The concept of psychological regression: metaphors, mapping, Queen Square, and Tavistock Square.
Hist Psychol
; 14(2): 174-96, 2011 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-21688725
16.
Impact of long-term elosulfase alfa treatment on clinical and patient-reported outcomes in patients with mucopolysaccharidosis type IVA: results from a Managed Access Agreement in England.
Orphanet J Rare Dis
; 16(1): 38, 2021 01 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-33478511
17.
Use of enzyme replacement therapy (Laronidase) before hematopoietic stem cell transplantation for mucopolysaccharidosis I: experience in 18 patients.
J Pediatr
; 154(1): 135-9, 2009 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-19187736
18.
Improved metabolic correction in patients with lysosomal storage disease treated with hematopoietic stem cell transplant compared with enzyme replacement therapy.
J Pediatr
; 154(4): 609-11, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19324223
19.
Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I.
Mol Ther Methods Clin Dev
; 13: 321-333, 2019 Jun 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-30976609
20.
A decade of excellent transplant survival in children with inherited metabolic diseases: A report from a single metabolic transplant centre in Europe.
Blood Cell Ther
; 2(2): 31-35, 2019 May 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-37885827