Search details
1.
Trial of N-Acetyl-l-Leucine in Niemann-Pick Disease Type C.
N Engl J Med
; 390(5): 421-431, 2024 Feb 01.
Article
in English
| MEDLINE | ID: mdl-38294974
2.
Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease.
Radiology
; 307(1): e212779, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36537898
3.
Prevalence of Fabry disease in patients with chronic kidney disease: A systematic review and meta-analysis.
Mol Genet Metab
; 140(4): 107714, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37918171
4.
Should Familial Hypercholesterolaemia Be Included in the UK Newborn Whole Genome Sequencing Programme?
Curr Atheroscler Rep
; 25(12): 1083-1091, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-38060059
5.
Enzyme replacement therapy for late-onset Pompe disease.
Cochrane Database Syst Rev
; 12: CD012993, 2023 12 12.
Article
in English
| MEDLINE | ID: mdl-38084761
6.
Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma.
Mol Genet Metab
; 133(4): 335-344, 2021 08.
Article
in English
| MEDLINE | ID: mdl-34229967
7.
Upgrading the evidence for the use of ambroxol in Gaucher disease and GBA related Parkinson: Investigator initiated registry based on real life data.
Am J Hematol
; 96(5): 545-551, 2021 05 01.
Article
in English
| MEDLINE | ID: mdl-33606887
8.
Impact of SARS-CoV-2 (COVID-19) pandemic on patients with lysosomal storage disorders and restoration of services: experience from a specialist centre.
Intern Med J
; 51(10): 1580-1593, 2021 Oct.
Article
in English
| MEDLINE | ID: mdl-34487419
9.
The definition of neuronopathic Gaucher disease.
J Inherit Metab Dis
; 43(5): 1056-1059, 2020 09.
Article
in English
| MEDLINE | ID: mdl-32242941
10.
Management of familial hypercholesterolaemia in childhood.
Curr Opin Pediatr
; 32(5): 633-640, 2020 10.
Article
in English
| MEDLINE | ID: mdl-32833799
11.
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
Mol Genet Metab
; 127(1): 86-94, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30987917
12.
Statins for children with familial hypercholesterolemia.
Cochrane Database Syst Rev
; 2019(11)2019 11 07.
Article
in English
| MEDLINE | ID: mdl-31696945
13.
Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Earlier Diagnosis Consensus (GED-C) Delphi initiative.
Intern Med J
; 49(5): 578-591, 2019 05.
Article
in English
| MEDLINE | ID: mdl-30414226
14.
Statins for children with familial hypercholesterolemia.
Cochrane Database Syst Rev
; 7: CD006401, 2017 07 07.
Article
in English
| MEDLINE | ID: mdl-28685504
15.
Paediatric Fabry disease: prognostic significance of ocular changes for disease severity.
BMC Ophthalmol
; 16(1): 202, 2016 Nov 16.
Article
in English
| MEDLINE | ID: mdl-27852300
16.
Pregnancy and associated events in women receiving enzyme replacement therapy for late-onset glycogen storage disease type II (Pompe disease).
J Obstet Gynaecol Res
; 42(10): 1263-1271, 2016 Oct.
Article
in English
| MEDLINE | ID: mdl-27384519
17.
Fabry App: the value of a portable technology in recording day-to-day patient monitored information in patients with Fabry disease.
Orphanet J Rare Dis
; 19(1): 13, 2024 Jan 11.
Article
in English
| MEDLINE | ID: mdl-38212814
18.
Abundant pseudo-Gaucher cells result in delay in diagnosis of plasma cell myeloma.
Br J Haematol
; 182(4): 465, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29741764
19.
Fabry International Prognostic Index: a predictive severity score for Anderson-Fabry disease.
J Med Genet
; 49(3): 212-20, 2012 Mar.
Article
in English
| MEDLINE | ID: mdl-22315436
20.
Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.
Orphanet J Rare Dis
; 18(1): 203, 2023 07 21.
Article
in English
| MEDLINE | ID: mdl-37480023