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Familial Renal Glucosuria and SGLT2: From a Mendelian Trait to a Therapeutic Target

Clinical journal of the American Society of Nephrology, 2010-01, Vol.5 (1), p.133-141

2010

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MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2

Journal of the American Society of Nephrology, 2017-01, Vol.28 (1), p.85-93

2017

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Zebrafish Model as a Screen to Prevent Cyst Inflation in Autosomal Dominant Polycystic Kidney Disease

International journal of molecular sciences, 2021-08, Vol.22 (16), p.9013

2021

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Cysteine as a Multifaceted Player in Kidney, the Cysteine-Related Thiolome and Its Implications for Precision Medicine

Molecules (Basel, Switzerland), 2022-02, Vol.27 (4), p.1416

2022

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Adult presentation of Bartter syndrome type IV with erythrocytosis

Einstein (São Paulo, Brazil), 2015-10, Vol.13 (4), p.604-606

2015

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Oxalate (dys)Metabolism: Person-to-Person Variability, Kidney and Cardiometabolic Toxicity

Genes, 2023-08, Vol.14 (9), p.1719

2023

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Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome

CEN case reports, 2018-05, Vol.7 (1), p.73-76

2018

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Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis

American journal of human genetics, 2000-03, Vol.66 (3), p.778-789

2000

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The Na+‐coupled glucose transporter SGLT2 interacts with its accessory unit MAP17 in vitro and their expressions overlap in the renal proximal tubule

FEBS letters, 2018-10, Vol.592 (19), p.3317-3326

2018

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Performance of the ACMG‐AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants

Clinical genetics, 2023-11, Vol.104 (5), p.582-586

2023

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The Na + ‐coupled glucose transporter SGLT 2 interacts with its accessory unit MAP 17 in vitro and their expressions overlap in the renal proximal tubule

FEBS letters, 2018-10, Vol.592 (19), p.3317-3326

2018

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Effect of kidney disease on glucose handling (including genetic defects)

Kidney international, 2011-03, Vol.79 (S120), p.S7-S13

2011

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SP115INTERSTITIAL NEPHRITIS REVISITED: AETIOLOGY AND OUTCOMES OF A CENTRE’S LAST 10 YEARS’ EXPERIENCE

Nephrology, dialysis, transplantation, 2018-05, Vol.33 (suppl_1), p.i383-i383

2018

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A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

BMC medical genetics, 2005-01, Vol.6 (1), p.5-5

2005

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An Atypical Presentation of Thrombotic Microangiopathy After Lung Transplant: A Case Report

Transplantation proceedings, 2019-06, Vol.51 (5), p.1633-1635

2019

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A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

BMC medical genetics, 2005-01, Vol.6 (1), Article 5

2005

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A case of polyuria

Portuguese journal of nephrology & hypertension, 2021-01, Vol.34 (4)

Calado, Joaquim

2021

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A case of polyuria

Portuguese journal of nephrology & hypertension, 2020-12, Vol.34 (4), p.251-253

Calado, Joaquim

2020

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Determination of the Renal Threshold for Glucose Excretion in Familial Renal Glucosuria

Nephron (2015), 2015-01, Vol.129 (4), p.300-304

2015

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Dapagliflozin, an oral sodium glucose cotransporter type 2 inhibitor for the treatment of type 2 diabetes mellitus

IDrugs : the investigational drugs journal, 2009-12, Vol.12 (12), p.785

Calado, Joaquim

2009

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Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion

Nephrology, dialysis, transplantation, 2008-12, Vol.23 (12), p.3874-3879

2008

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Efeito da empagliflozina para além do controlo glicémico: benefício cardiovascular em doentes com DMT2 e doença cardiovascular estabelecida

Revista portuguesa de cardiologia, 2019-10, Vol.38 (10), p.721-735

2019

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Efeito da empagliflozina para além do controlo glicémico: benefício cardiovascular em doentes com DMT2 e doença cardiovascular estabelecida

Revista portuguesa de cardiologia, 2019-10, Vol.38 (10), p.721-735

2019

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Alternative pathway complement activation in secondary thrombotic microangiopathies: is genetics the smoking gun?

Portuguese journal of nephrology & hypertension, 2020-01, Vol.33 (4), p.238-238

Calado, Joaquim

2020

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Chronic kidney disease: a practical guide (ACT-NAU)

Revista portuguesa de medicina geral e familiar, 2024-02, Vol.40

2024

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Familial Renal Glucosuria and SGLT2: From a Mendelian Trait to a Therapeutic Target

MAP17 Is a Necessary Activator of Renal Na+/Glucose Cotransporter SGLT2

Zebrafish Model as a Screen to Prevent Cyst Inflation in Autosomal Dominant Polycystic Kidney Disease

Cysteine as a Multifaceted Player in Kidney, the Cysteine-Related Thiolome and Its Implications for Precision Medicine

Adult presentation of Bartter syndrome type IV with erythrocytosis

Oxalate (dys)Metabolism: Person-to-Person Variability, Kidney and Cardiometabolic Toxicity

Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome

Characterization of the NPHP1 Locus: Mutational Mechanism Involved in Deletions in Familial Juvenile Nephronophthisis

The Na+‐coupled glucose transporter SGLT2 interacts with its accessory unit MAP17 in vitro and their expressions overlap in the renal proximal tubule

Performance of the ACMG‐AMP criteria in a large familial renal glucosuria cohort with identified SLC5A2 sequence variants

The Na + ‐coupled glucose transporter SGLT 2 interacts with its accessory unit MAP 17 in vitro and their expressions overlap in the renal proximal tubule

Effect of kidney disease on glucose handling (including genetic defects)

SP115INTERSTITIAL NEPHRITIS REVISITED: AETIOLOGY AND OUTCOMES OF A CENTRE’S LAST 10 YEARS’ EXPERIENCE

A novel heterozygous missense mutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

An Atypical Presentation of Thrombotic Microangiopathy After Lung Transplant: A Case Report

A novel heterozygous missensemutation in the UMOD gene responsible for Familial Juvenile Hyperuricemic Nephropathy

A case of polyuria

A case of polyuria

Determination of the Renal Threshold for Glucose Excretion in Familial Renal Glucosuria

Dapagliflozin, an oral sodium glucose cotransporter type 2 inhibitor for the treatment of type 2 diabetes mellitus

Twenty-one additional cases of familial renal glucosuria: absence of genetic heterogeneity, high prevalence of private mutations and further evidence of volume depletion

Efeito da empagliflozina para além do controlo glicémico: benefício cardiovascular em doentes com DMT2 e doença cardiovascular estabelecida

Efeito da empagliflozina para além do controlo glicémico: benefício cardiovascular em doentes com DMT2 e doença cardiovascular estabelecida

Alternative pathway complement activation in secondary thrombotic microangiopathies: is genetics the smoking gun?

Chronic kidney disease: a practical guide (ACT-NAU)

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