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1.
Venglustat, an orally administered glucosylceramide synthase inhibitor: Assessment over 3 years in adult males with classic Fabry disease in an open-label phase 2 study and its extension study.
Mol Genet Metab
; 138(2): 106963, 2023 02.
Article
in English
| MEDLINE | ID: mdl-36481125
2.
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
Genet Med
; 24(7): 1425-1436, 2022 07.
Article
in English
| MEDLINE | ID: mdl-35471153
3.
Clinical relevance of globotriaosylceramide accumulation in Fabry disease and the effect of agalsidase beta in affected tissues.
Mol Genet Metab
; 137(4): 328-341, 2022 Dec.
Article
in English
| MEDLINE | ID: mdl-36334424
4.
Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment.
Mol Genet Metab
; 131(1-2): 245-252, 2020.
Article
in English
| MEDLINE | ID: mdl-32620536
5.
Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.
Mol Genet Metab
; 129(2): 67-72, 2020 02.
Article
in English
| MEDLINE | ID: mdl-31839530
6.
Peripheral Nerve Microscopic Changes Related to Study Procedures: Two Nonclinical Case Studies.
Toxicol Pathol
; 48(1): 220-227, 2020 01.
Article
in English
| MEDLINE | ID: mdl-31319785
7.
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
8.
Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.
Mol Ther
; 26(9): 2304-2314, 2018 09 05.
Article
in English
| MEDLINE | ID: mdl-30025991
9.
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency).
Genet Med
; 18(1): 34-40, 2016 Jan.
Article
in English
| MEDLINE | ID: mdl-25834946
10.
α-Galactosidase A knockout mice: progressive organ pathology resembles the type 2 later-onset phenotype of Fabry disease.
Am J Pathol
; 185(3): 651-65, 2015 Mar.
Article
in English
| MEDLINE | ID: mdl-25553976
11.
Prospective exploratory muscle biopsy, imaging, and functional assessment in patients with late-onset Pompe disease treated with alglucosidase alfa: The EMBASSY Study.
Mol Genet Metab
; 119(1-2): 115-23, 2016 09.
Article
in English
| MEDLINE | ID: mdl-27473031
12.
Nonclinical safety assessment of recombinant human acid sphingomyelinase (rhASM) for the treatment of acid sphingomyelinase deficiency:the utility of animal models of disease in the toxicological evaluation of potential therapeutics.
Mol Genet Metab
; 114(2): 217-25, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25092414
13.
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency.
Mol Genet Metab
; 116(1-2): 88-97, 2015.
Article
in English
| MEDLINE | ID: mdl-26049896
14.
Adjunctive ß2-agonists reverse neuromuscular involvement in murine Pompe disease.
FASEB J
; 27(1): 34-44, 2013 Jan.
Article
in English
| MEDLINE | ID: mdl-22993195
15.
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for glycogen storage disease type III.
Mol Genet Metab
; 108(2): 145-7, 2013 Feb.
Article
in English
| MEDLINE | ID: mdl-23318145
16.
Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
Orphanet J Rare Dis
; 18(1): 378, 2023 Dec 02.
Article
in English
| MEDLINE | ID: mdl-38042851
17.
Investigative pathology: leading the post-genomic revolution.
Lab Invest
; 92(1): 4-8, 2012 Jan.
Article
in English
| MEDLINE | ID: mdl-21986811
18.
Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.
Hum Mol Genet
; 19(4): 684-96, 2010 Feb 15.
Article
in English
| MEDLINE | ID: mdl-19959526
19.
ß2 Agonists enhance the efficacy of simultaneous enzyme replacement therapy in murine Pompe disease.
Mol Genet Metab
; 105(2): 221-7, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22154081
20.
Autopsy findings in late-onset Pompe disease: a case report and systematic review of the literature.
Mol Genet Metab
; 106(4): 462-9, 2012 Aug.
Article
in English
| MEDLINE | ID: mdl-22664150