Search details
1.
Natural history of cardiac findings in mucopolysaccharidosis type I: report from an international registry.
Cardiol Young
; 34(2): 401-411, 2024 Feb.
Article
in English
| MEDLINE | ID: mdl-37850463
2.
Growth in individuals with attenuated mucopolysaccharidosis type I during untreated and treated periods: Data from the MPS I registry.
Am J Med Genet A
; 188(10): 2941-2951, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35869927
3.
Pharmacological Chaperones for GCase that Switch Conformation with pH Enhance Enzyme Levels in Gaucher Animal Models.
Angew Chem Int Ed Engl
; 61(38): e202207974, 2022 09 19.
Article
in English
| MEDLINE | ID: mdl-35864061
4.
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
5.
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
J Hum Genet
; 64(12): 1173-1186, 2019 Dec.
Article
in English
| MEDLINE | ID: mdl-31530938
6.
Genotype-phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry.
Clin Genet
; 96(4): 281-289, 2019 10.
Article
in English
| MEDLINE | ID: mdl-31194252
7.
Growth patterns for untreated individuals with MPS I: Report from the international MPS I registry.
Am J Med Genet A
; 179(12): 2425-2432, 2019 12.
Article
in English
| MEDLINE | ID: mdl-31639289
8.
Is it Fabry disease?
Genet Med
; 18(12): 1181-1185, 2016 12.
Article
in English
| MEDLINE | ID: mdl-27195818
9.
Implementing evidence-driven individualized treatment plans within Morquio A Syndrome.
Mol Genet Metab
; 117(2): 217, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26877092
10.
12 year follow up of enzyme-replacement therapy in two siblings with attenuated mucopolysaccharidosis I: the important role of early treatment.
BMC Med Genet
; 17: 19, 2016 Mar 10.
Article
in English
| MEDLINE | ID: mdl-26965916
11.
Extracellular matrix disruption is an early event in the pathogenesis of skeletal disease in mucopolysaccharidosis I.
Mol Genet Metab
; 114(2): 146-55, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25410057
12.
Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.
Skeletal Radiol
; 43(3): 359-69, 2014 Mar.
Article
in English
| MEDLINE | ID: mdl-24389823
13.
Gain-of-function MARK4 variant associates with pediatric neurodevelopmental disorder and dysmorphism.
HGG Adv
; 5(1): 100259, 2024 Jan 11.
Article
in English
| MEDLINE | ID: mdl-38041405
14.
Transgenic mice expressing human glucocerebrosidase variants: utility for the study of Gaucher disease.
Blood Cells Mol Dis
; 51(2): 109-15, 2013 Aug.
Article
in English
| MEDLINE | ID: mdl-23642305
15.
Imaging of enzyme replacement therapy using PET.
Proc Natl Acad Sci U S A
; 107(24): 10842-7, 2010 Jun 15.
Article
in English
| MEDLINE | ID: mdl-20534487
16.
Production of active human glucocerebrosidase in seeds of Arabidopsis thaliana complex-glycan-deficient (cgl) plants.
Glycobiology
; 22(4): 492-503, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22061999
17.
Left ventricular aneurysm in an adult patient with mucopolysaccharidosis type I: comment on pathogenesis of a novel complication.
Mol Genet Metab
; 106(4): 470-3, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22732207
18.
Biomarkers for the mucopolysaccharidoses: discovery and clinical utility.
Mol Genet Metab
; 106(4): 395-402, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22658917
19.
Mucopolysaccharidosis Type I Newborn Screening: Best Practices for Diagnosis and Management.
J Pediatr
; 182: 363-370, 2017 03.
Article
in English
| MEDLINE | ID: mdl-27939258
20.
Pathogenesis of skeletal and connective tissue involvement in the mucopolysaccharidoses: glycosaminoglycan storage is merely the instigator.
Rheumatology (Oxford)
; 50 Suppl 5: v13-8, 2011 Dec.
Article
in English
| MEDLINE | ID: mdl-22210665