Detalhe da pesquisa
1.
Mechanistic Insights into the Chaperoning of Human Lysosomal-Galactosidase Activity: Highly Functionalized Aminocyclopentanes and C-5a-Substituted Derivatives of 4-epi-Isofagomine.
Molecules
; 25(17)2020 Sep 03.
Artigo
Inglês
| MEDLINE | ID: mdl-32899288
2.
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
J Pediatr
; 215: 152-157.e3, 2019 12.
Artigo
Inglês
| MEDLINE | ID: mdl-31761138
3.
Potent GH20 N-Acetyl-ß-d-hexosaminidase Inhibitors: N-Substituted 3-acetamido-4-amino-5-hydroxymethyl-cyclopentanediols.
Molecules
; 23(3)2018 Mar 20.
Artigo
Inglês
| MEDLINE | ID: mdl-29558439
4.
A new type of pharmacological chaperone for GM1-gangliosidosis related human lysosomal ß-galactosidase: N-Substituted 5-amino-1-hydroxymethyl-cyclopentanetriols.
Bioorg Med Chem Lett
; 27(15): 3431-3435, 2017 08 01.
Artigo
Inglês
| MEDLINE | ID: mdl-28600215
5.
Synthesis of C-5a-chain extended derivatives of 4-epi-isofagomine: Powerful ß-galactosidase inhibitors and low concentration activators of GM1-gangliosidosis-related human lysosomal ß-galactosidase.
Bioorg Med Chem Lett
; 26(5): 1438-42, 2016 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-26838810
6.
Screening for Fabry Disease by Urinary Globotriaosylceramide Isoforms Measurement in Patients with Left Ventricular Hypertrophy.
Int J Med Sci
; 13(5): 340-6, 2016.
Artigo
Inglês
| MEDLINE | ID: mdl-27226774
7.
Positive outcome following early diagnosis and treatment of pyridoxal-5'-phosphate oxidase deficiency: a case report.
Neuropediatrics
; 45(1): 64-8, 2014 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-24297574
8.
Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome.
Pediatr Hematol Oncol
; 31(8): 723-30, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25116402
9.
Acute cerebrovascular disease in the young: the Stroke in Young Fabry Patients study.
Stroke
; 44(2): 340-9, 2013 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-23306324
10.
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients.
J Inherit Metab Dis
; 36(1): 7-13, 2013 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-22526846
11.
Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB1 alleles causing GM1-gangliosidosis and Morquio B disease.
J Inherit Metab Dis
; 35(3): 495-503, 2012 May.
Artigo
Inglês
| MEDLINE | ID: mdl-22033734
12.
Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study.
Am J Kidney Dis
; 57(5): 673-81, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21186071
13.
A fluorescent probe for GM1 gangliosidosis related ß-galactosidase: N-(dansylamino)hexylaminocarbonylpentyl-1,5-dideoxy-1,5-imino-D-galactitol.
Bioorg Med Chem Lett
; 21(22): 6872-5, 2011 Nov 15.
Artigo
Inglês
| MEDLINE | ID: mdl-21974950
14.
The endocardial binary appearance ('binary sign') is an unreliable marker for echocardiographic detection of Fabry disease in patients with left ventricular hypertrophy.
Eur J Echocardiogr
; 12(10): 744-9, 2011 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-21857019
15.
Fluorous iminoalditols: a new family of glycosidase inhibitors and pharmacological chaperones.
Chembiochem
; 11(14): 2026-33, 2010 Sep 24.
Artigo
Inglês
| MEDLINE | ID: mdl-20715263
16.
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.
Mol Genet Metab
; 100(3): 262-8, 2010 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-20409738
17.
Synthesis of lipophilic 1-deoxygalactonojirimycin derivatives as D-galactosidase inhibitors.
Beilstein J Org Chem
; 6: 21, 2010 Mar 01.
Artigo
Inglês
| MEDLINE | ID: mdl-20502610
18.
Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.
JIMD Rep
; 51(1): 30-44, 2020 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-32071837
19.
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.
Hum Mutat
; 30(8): 1214-21, 2009 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-19472408
20.
1-Deoxygalactonojirimycin-lysine hybrids as potent D-galactosidase inhibitors.
Bioorg Med Chem
; 16(24): 10216-20, 2008 Dec 15.
Artigo
Inglês
| MEDLINE | ID: mdl-18996021