Detalhe da pesquisa
1.
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
2.
The lysosomal disease caused by mutant VPS33A.
Hum Mol Genet
; 28(15): 2514-2530, 2019 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31070736
3.
Identification of patients with Fabry disease using routine pathology results: PATHFINDER (eGFR) study.
Int J Clin Pract
; 75(2): e13672, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-32777123
4.
The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations.
Hum Mutat
; 40(7): 842-864, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30882951
5.
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
6.
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
7.
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
8.
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
9.
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
10.
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
11.
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