Detalhe da pesquisa
1.
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide.
Mol Genet Metab
; 142(1): 108436, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38552449
2.
Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment.
Mol Genet Metab
; 142(1): 108349, 2024 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-38458124
3.
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.
Hum Mutat
; 43(12): 2265-2278, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36153662
4.
The lysosomal disease caused by mutant VPS33A.
Hum Mol Genet
; 28(15): 2514-2530, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070736
5.
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.
Mol Genet Metab
; 120(3): 247-254, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28065440
6.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-26832957
7.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-25467058
8.
Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.
J Clin Med
; 13(5)2024 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38592278
9.
Diagnosing mucopolysaccharidosis IVA.
J Inherit Metab Dis
; 36(2): 293-307, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23371450
10.
Reply to Maase et al. Comment on "Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Screen. 2022, 8, 20".
Int J Neonatal Screen
; 9(1)2023 Feb 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36810320
11.
Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.
Mol Genet Metab Rep
; 37: 101009, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-38053939
12.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-22371174
13.
A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes.
Int J Neonatal Screen
; 8(2)2022 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-35466196
14.
Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe.
Int J Neonatal Screen
; 8(1)2022 Mar 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35323199
15.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-21253827
16.
A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I.
J Vet Intern Med
; 34(5): 1813-1824, 2020 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-32785987
17.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-19324223
18.
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.
Artigo
em Inglês
| MEDLINE | ID: mdl-37885827
19.
Haematopoietic Stem Cell Transplantation Arrests the Progression of Neurodegenerative Disease in Late-Onset Tay-Sachs Disease.
JIMD Rep
; 41: 17-23, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29214523
20.
Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome.
Orphanet J Rare Dis
; 10: 42, 2015 Apr 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-25887468