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
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
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
Inglês
| MEDLINE | ID: mdl-36153662
4.
Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies.
Int J Mol Sci
; 23(18)2022 Sep 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36142486
5.
The lysosomal disease caused by mutant VPS33A.
Hum Mol Genet
; 28(15): 2514-2530, 2019 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31070736
6.
IDUA mutational profile and genotype-phenotype relationships in UK patients with Mucopolysaccharidosis Type I.
Hum Mutat
; 38(11): 1555-1568, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28752568
7.
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses.
Mol Genet Metab
; 120(3): 247-254, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28065440
8.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-28283844
9.
Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry.
J Inherit Metab Dis
; 40(1): 151-158, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27718145
10.
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
Inglês
| MEDLINE | ID: mdl-26832957
11.
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
Inglês
| MEDLINE | ID: mdl-25467058
12.
Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases.
J Clin Med
; 13(5)2024 Mar 02.
Artigo
Inglês
| MEDLINE | ID: mdl-38592278
13.
Diagnosing mucopolysaccharidosis IVA.
J Inherit Metab Dis
; 36(2): 293-307, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23371450
14.
Defect-free graphene enhances enzyme delivery to fibroblasts derived from patients with lysosomal storage disorders.
Nanoscale
; 15(21): 9348-9364, 2023 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37165691
15.
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
Inglês
| MEDLINE | ID: mdl-36810320
16.
Long-term outcomes in two adult siblings with Fucosidosis - Diagnostic odyssey and clinical manifestations.
Mol Genet Metab Rep
; 37: 101009, 2023 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-38053939
17.
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
Inglês
| MEDLINE | ID: mdl-22371174
18.
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
Inglês
| MEDLINE | ID: mdl-35466196
19.
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
Inglês
| MEDLINE | ID: mdl-35323199
20.
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.
Artigo
Inglês
| MEDLINE | ID: mdl-21416193