(Q28286955)

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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

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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 (English)

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Daniel L Metzger

object named as

Daniel Metzger

3

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author name string

Joaquim Calado

1

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Yves Sznajer

2

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Ana Rita

4

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Marie C Hogan

5

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Antonis Kattamis

6

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Mauro Scharf

7

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Velibor Tasic

8

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Johann Greil

9

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Florian Brinkert

10

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Markus J Kemper

11

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René Santer

12

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language of work or name

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publication date

December 2008

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Nephrology Dialysis Transplantation

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23

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12

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3874-9

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Molecular Analysis of the SGLT2 Gene in Patients with Renal Glucosuria

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

Familial renal glucosuria: SLC5A2 mutation analysis and evidence of salt-wasting

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2)

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

Renal glucosuria due to SGLT2 mutations

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

A novel SGLT2 mutation in a patient with autosomal recessive renal glucosuria

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

A novel missense mutation in SLC5A2 encoding SGLT2 underlies autosomal-recessive renal glucosuria and aminoaciduria

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

Nomenclature for the description of human sequence variations.

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

The HUGO Gene Nomenclature Committee (HGNC).

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

Active sugar transport in health and disease

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

Membrane topology motifs in the SGLT cotransporter family

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

Molecular basis for glucose-galactose malabsorption

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

Long-term outcome of renal glucosuria type 0: the original patient and his natural history

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

Long-term treatment with the Na+-glucose cotransporter inhibitor T-1095 causes sustained improvement in hyperglycemia and prevents diabetic neuropathy in Goto-Kakizaki Rats

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

Sergliflozin, a novel selective inhibitor of low-affinity sodium glucose cotransporter (SGLT2), validates the critical role of SGLT2 in renal glucose reabsorption and modulates plasma glucose level

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFN386

21 January 2018

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