Search details
1.
G protein-coupled receptor (GPCR) gene variants and human genetic disease.
Crit Rev Clin Lab Sci
; : 1-30, 2024 Mar 18.
Article
in English
| MEDLINE | ID: mdl-38497103
2.
Long-term multisystemic efficacy of migalastat on Fabry-associated clinical events, including renal, cardiac and cerebrovascular outcomes.
J Med Genet
; 60(7): 722-731, 2023 07.
Article
in English
| MEDLINE | ID: mdl-36543533
3.
Vaptans or voluntary increased hydration to protect the kidney: how do they compare?
Nephrol Dial Transplant
; 38(3): 562-574, 2023 02 28.
Article
in English
| MEDLINE | ID: mdl-34586414
4.
Regulation of Thirst and Vasopressin Release.
Annu Rev Physiol
; 81: 359-373, 2019 02 10.
Article
in English
| MEDLINE | ID: mdl-30742785
5.
Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots.
Int J Mol Sci
; 24(4)2023 Feb 06.
Article
in English
| MEDLINE | ID: mdl-36834643
6.
Thirst, Hunger, and Nephrogenic Diabetes Insipidus.
N Engl J Med
; 390(20): 1922-1924, 2024 May 30.
Article
in English
| MEDLINE | ID: mdl-38810192
7.
Assessment of plasma lyso-Gb3 for clinical monitoring of treatment response in migalastat-treated patients with Fabry disease.
Genet Med
; 23(1): 192-201, 2021 01.
Article
in English
| MEDLINE | ID: mdl-32994552
8.
Independent Registries Are Cost-Effective Tools to Provide Mandatory Postauthorization Surveillance for Orphan Medicinal Products.
Value Health
; 24(2): 268-273, 2021 02.
Article
in English
| MEDLINE | ID: mdl-33518033
9.
Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype-phenotype workgroup.
J Med Genet
; 57(8): 542-551, 2020 08.
Article
in English
| MEDLINE | ID: mdl-32161151
10.
Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.
Int J Mol Sci
; 21(17)2020 Aug 25.
Article
in English
| MEDLINE | ID: mdl-32854306
11.
What can copeptin tell us in patients with autosomal dominant polycystic disease?
Kidney Int
; 96(1): 19-22, 2019 07.
Article
in English
| MEDLINE | ID: mdl-31229028
12.
Aquaporin-1 Expression and Ultrafiltration of the Peritoneal Membrane.
N Engl J Med
; 385(17): 1617-1619, 2021 10 21.
Article
in English
| MEDLINE | ID: mdl-34670049
13.
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat.
N Engl J Med
; 375(6): 545-55, 2016 Aug 11.
Article
in English
| MEDLINE | ID: mdl-27509102
14.
Efficacy of the pharmacologic chaperone migalastat in a subset of male patients with the classic phenotype of Fabry disease and migalastat-amenable variants: data from the phase 3 randomized, multicenter, double-blind clinical trial and extension study.
Genet Med
; 21(9): 1987-1997, 2019 09.
Article
in English
| MEDLINE | ID: mdl-30723321
15.
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
16.
Agalsidase alfa versus agalsidase beta for the treatment of Fabry disease: an international cohort study.
J Med Genet
; 55(5): 351-358, 2018 05.
Article
in English
| MEDLINE | ID: mdl-29437868
17.
What's in a name? That which we call diabetes does not taste sweet!
Pediatr Nephrol
; 38(4): 937-939, 2023 04.
Article
in English
| MEDLINE | ID: mdl-36369299
18.
Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study.
J Med Genet
; 54(4): 288-296, 2017 04.
Article
in English
| MEDLINE | ID: mdl-27834756
19.
Vasopressin and the Regulation of Thirst.
Ann Nutr Metab
; 72 Suppl 2: 3-7, 2018.
Article
in English
| MEDLINE | ID: mdl-29925072
20.
Hepatocyte Nuclear Factor-1ß Regulates Urinary Concentration and Response to Hypertonicity.
J Am Soc Nephrol
; 28(10): 2887-2900, 2017 Oct.
Article
in English
| MEDLINE | ID: mdl-28507058