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What's in a name? That which we call diabetes does not taste sweet!
- Published in:
- Pediatric Nephrology, 2023, v. 38, n. 4, p. 937, doi. 10.1007/s00467-022-05815-8
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- Publication type:
- Article
Vaptans or voluntary increased hydration to protect the kidney: how do they compare?
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- Nephrology Dialysis Transplantation, 2023, v. 38, n. 3, p. 562, doi. 10.1093/ndt/gfab278
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- Publication type:
- Article
Mass Spectrometry Analysis of Globotriaosylsphingosine and Its Analogues in Dried Blood Spots.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 4, p. 3223, doi. 10.3390/ijms24043223
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- Publication type:
- Article
Changing the name of diabetes insipidus.
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- 2022
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- Publication type:
- Letter
A Novel Form of Familial Vasopressin Deficient Diabetes Insipidus Transmitted in an X-linked Recessive Manner.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 6, p. e2513, doi. 10.1210/clinem/dgac076
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- Publication type:
- Article
Genetic Testing and FOX News.
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- American Journal of Nephrology, 2022, v. 53, n. 4, p. 249, doi. 10.1159/000522227
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- Publication type:
- Article
The Safety of Agalsidase Alfa Enzyme Replacement Therapy in Canadian Patients with Fabry Disease Following Implementation of a Bioreactor Process.
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- Drugs in R&D, 2021, v. 21, n. 4, p. 385, doi. 10.1007/s40268-021-00361-4
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- Publication type:
- Article
New Animal Data on Osmotic and Hypovolemic Thirst.
- Published in:
- Annals of Nutrition & Metabolism, 2021, v. 77, p. 7, doi. 10.1159/000520579
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- Publication type:
- Article
Further evidence for functional recovery of AQP2 mutations associated with nephrogenic diabetes insipidus.
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- Physiological Reports, 2021, v. 9, n. 11, p. 1, doi. 10.14814/phy2.14866
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- Publication type:
- Article
Long-term outcome in inherited nephrogenic diabetes insipidus.
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- Clinical Kidney Journal, 2020, v. 13, n. 6, p. 1111, doi. 10.1093/ckj/sfaa223
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- Publication type:
- Article
Diurnal Variation of Urinary Fabry Disease Biomarkers during Enzyme Replacement Therapy Cycles.
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- International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6114, doi. 10.3390/ijms21176114
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- Publication type:
- Article
Pathophysiology, diagnosis and treatment of familial nephrogenic diabetes insipidus.
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- European Journal of Endocrinology, 2020, v. 183, n. 2, p. R29, doi. 10.1530/EJE-20-0114
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- Publication type:
- Article
Disease-linked mutations alter the stoichiometries of HCN-KCNE2 complexes.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45592-3
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- Publication type:
- Article
Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study.
- Published in:
- American Journal of Medical Genetics. Part A, 2019, v. 179, n. 6, p. 1069, doi. 10.1002/ajmg.a.61105
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- Publication type:
- Article
Long-term outcome in inherited nephrogenic diabetes insipidus.
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- Clinical Kidney Journal, 2019, v. 12, n. 2, p. 180, doi. 10.1093/ckj/sfy027
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- Publication type:
- Article
Updated Canadian Expert Consensus on Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease.
- Published in:
- Canadian Journal of Kidney Health & Disease, 2018, v. 5, p. 1, doi. 10.1177/2054358118801589
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- Publication type:
- Article
Severe bradyarrhythmia linked to left atrial dysfunction in Fabry disease—A cross‐sectional study.
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- Clinical Cardiology, 2018, v. 41, n. 9, p. 1207, doi. 10.1002/clc.23019
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- Publication type:
- Article
Vasopressin and the Regulation of Thirst.
- Published in:
- Annals of Nutrition & Metabolism, 2018, v. 72, p. 3, doi. 10.1159/000488233
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- Publication type:
- Article
Migalastat improves diarrhea in patients with Fabry disease: clinical-biomarker correlations from the phase 3 FACETS trial.
- Published in:
- 2018
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- Publication type:
- journal article
Updated Canadian Expert Consensus on Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease.
- Published in:
- Canadian Journal of Kidney Health & Disease, 2018, v. 5, p. 1, doi. 10.1177/2054358118801589
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- Publication type:
- Article
Mice deficient for ERAD machinery component Sel1L develop central diabetes insipidus.
- Published in:
- 2017
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- Publication type:
- journal article
Assessing Risk of Disease Progression and Pharmacological Management of Autosomal Dominant Polycystic Kidney Disease: A Canadian Expert Consensus.
- Published in:
- Canadian Journal of Kidney Health & Disease, 2017, v. 4, p. 1, doi. 10.1177/2054358117695784
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- Publication type:
- Article
Functional Recovery of AQP2 Recessive Mutations Through Hetero-Oligomerization with Wild-Type Counterpart.
- Published in:
- Scientific Reports, 2016, p. 33298, doi. 10.1038/srep33298
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- Publication type:
- Article
Vasopressin at Central Levels and Consequences of Dehydration.
- Published in:
- Annals of Nutrition & Metabolism, 2016, v. 68, p. 19, doi. 10.1159/000446200
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- Publication type:
- Article
Aneed for a systematic genetic evaluation of hereditary polyuric patients.
- Published in:
- 2016
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- Publication type:
- Case Study
Oral Migalastat HCl Leads to Greater Systemic Exposure and Tissue Levels of Active α-Galactosidase A in Fabry Patients when Co-Administered with Infused Agalsidase.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0134341
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- Publication type:
- Article
Characterization of Early Disease Status in Treatment-Naive Male Paediatric Patients with Fabry Disease Enrolled in a Randomized Clinical Trial.
- Published in:
- PLoS ONE, 2015, v. 10, n. 5, p. 1, doi. 10.1371/journal.pone.0124987
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- Publication type:
- Article
2001 : ODYSSEE DE LA SCIENCE.
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- Médecine Sciences, 2015, v. 31, p. 3
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- Publication type:
- Article
Le changement dans la continuité et la continuité dans le changement.
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- Médecine Sciences, 2015, v. 31, p. 7
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- Publication type:
- Article
Central vasopressin: dendritic and axonal secretion and renal actions.
- Published in:
- 2014
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- Publication type:
- Abstract
Evidence of a third ADPKD locus is not supported by re-analysis of designated PKD3 families.
- Published in:
- Kidney International, 2014, v. 85, n. 2, p. 383, doi. 10.1038/ki.2013.227
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- Publication type:
- Article
Transient nephrogenic syndrome of inappropriate antidiuresis.
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- 2013
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- Publication type:
- Case Study
Oral lixivaptan effectively increases serum sodium concentrations in outpatients with euvolemic hyponatremia.
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- Kidney International, 2012, v. 82, n. 11, p. 1215, doi. 10.1038/ki.2012.274
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- Publication type:
- Article
Lixivaptan safely and effectively corrects serum sodium concentrations in hospitalized patients with euvolemic hyponatremia.
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- Kidney International, 2012, v. 82, n. 11, p. 1223, doi. 10.1038/ki.2012.275
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- Publication type:
- Article
A defect in vasopressin secretion in autosomal dominant polycystic kidney disease.
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- Kidney International, 2012, v. 82, n. 10, p. 1051, doi. 10.1038/ki.2012.271
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- Publication type:
- Article
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus—update and epidemiology.
- Published in:
- Clinical Kidney Journal, 2012, v. 5, n. 3, p. 195, doi. 10.1093/ckj/sfs029
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- Publication type:
- Article
Aquaporin-2: new mutations responsible for autosomal-recessive nephrogenic diabetes insipidus—update and epidemiology.
- Published in:
- Nephrology Dialysis Transplantation, 2012, v. 5, n. 3, p. 195
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- Publication type:
- Article
Novel mutation in the AVPR2 gene in a Danish male with nephrogenic diabetes insipidus caused by ER retention and subsequent lysosomal degradation of the mutant receptor.
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- NDT Plus, 2011, v. 4, n. 3, p. 158, doi. 10.1093/ndtplus/sfr010
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- Publication type:
- Article
A de novo novel missense mutation in AVPR2 with severe nephrogenic diabetes insipidus.
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- NDT Plus, 2010, v. 3, n. 6, p. 542, doi. 10.1093/ndtplus/sfq158
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- Publication type:
- Article
Kidney and liver cysts in autosomal dominant polycystic kidney disease.
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- Nephrology Dialysis Transplantation, 2010, v. 25, n. 11, p. 3472, doi. 10.1093/ndt/gfq567
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- Publication type:
- Article
Stimulating effect of external Myo-inositol on the expression of mutant forms of aquaporin 2.
- Published in:
- 2010
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- Publication type:
- journal article
New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes.
- Published in:
- Journal of Physiology, 2010, v. 588, n. 12, p. 2205, doi. 10.1113/jphysiol.2010.187674
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- Publication type:
- Article
Wilms tumor arising in a child with X-linked nephrogenic diabetes insipidus.
- Published in:
- Pediatric Nephrology, 2009, v. 24, n. 7, p. 1313, doi. 10.1007/s00467-009-1147-4
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- Publication type:
- Article
A novel disease-causing mutation in AVPR2: Q96H.
- Published in:
- NDT Plus, 2009, v. 2, n. 1, p. 20, doi. 10.1093/ndtplus/sfn163
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- Publication type:
- Article
Agalsidase-Beta Therapy for Advanced Fabry Disease.
- Published in:
- Annals of Internal Medicine, 2007, v. 146, n. 2, p. 77, doi. 10.7326/0003-4819-146-2-200701160-00148
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- Publication type:
- Article
Nephrogenic Diabetes Insipidus.
- Published in:
- Annals of Internal Medicine, 2006, v. 144, n. 3, p. 186, doi. 10.7326/0003-4819-144-3-200602070-00007
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- Publication type:
- Article
A novel mechanism in recessive nephrogenic diabetes insipidus: wild-type aquaporin-2 rescues the apical membrane expression of intracellularly retained AQP2-P262L.
- Published in:
- Human Molecular Genetics, 2004, v. 13, n. 24, p. 3045, doi. 10.1093/hmg/ddh339
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- Publication type:
- Article
The dilemma of diagnosing the cause of hypernatraemia: drinking habits vs diabetes insipidus.
- Published in:
- Nephrology Dialysis Transplantation, 2004, v. 19, n. 12, p. 3165, doi. 10.1093/ndt/gfh479
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- Publication type:
- Article
The quest for the gene responsible for medullarycystic kidney disease type 1.
- Published in:
- 2004
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- Publication type:
- Editorial
Reversed polarized delivery of an aquaporin-2 mutant causes dominant nephrogenic diabetes insipidus.
- Published in:
- Journal of Cell Biology, 2003, v. 163, n. 5, p. 1099, doi. 10.1083/jcb.200309017
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- Publication type:
- Article