(Q38071852)

28 August 2017

1 reference

title

When to suspect a genetic disorder in a patient with renal stones, and why. (English)

1 reference

28 August 2017

author name string

Pietro Manuel Ferraro

series ordinal

1

1 reference

28 August 2017

Alessandro D'Addessi

series ordinal

2

1 reference

28 August 2017

Giovanni Gambaro

series ordinal

3

1 reference

28 August 2017

language of work or name

English

0 references

publication date

4 January 2013

1 reference

Nephrology Dialysis Transplantation

28 August 2017

published in

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28 August 2017

volume

28

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28 August 2017

issue

4

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28 August 2017

page(s)

811-820

1 reference

Prevalence of renal stones in an Italian urban population: a general practice-based study

28 August 2017

cites work

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Nephrolithiasis: why doesn't our "learning" progress?

21 January 2018

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Genetics of hypercalciuria and calcium nephrolithiasis: from the rare monogenic to the common polygenic forms

21 January 2018

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Hypercalciuria revisited: one or many conditions?

21 January 2018

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Late diagnosis of primary hyperoxaluria after failed kidney transplantation

21 January 2018

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Inherited monogenic kidney stone diseases: recent diagnostic and therapeutic advances

21 January 2018

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Risk for renal failure in nephrolithiasis

21 January 2018

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Risk factors for CKD in persons with kidney stones: a case-control study in Olmsted County, Minnesota

21 January 2018

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Dent's disease and prevalence of renal stones in dialysis patients in Northeastern Italy

21 January 2018

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Chronic kidney disease in kidney stone formers

21 January 2018

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Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: blocking endocytosis restores surface expression of a novel Claudin-16 mutant that lacks the entire C-terminal cytosolic tail.

21 January 2018

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21 January 2018

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Clinical features and genotype of adenine phosphoribosyltransferase deficiency in iceland.

21 January 2018

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Crystalline nephropathy due to 2,8-dihydroxyadeninuria: an under-recognized cause of irreversible renal failure

21 January 2018

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A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor

21 January 2018

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Genetic determinants of urolithiasis

21 January 2018

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Diagnostic examination of the child with urolithiasis or nephrocalcinosis

21 January 2018

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X-linked hypercalciuric nephrolithiasis: clinical syndromes and chloride channel mutations

21 January 2018

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Endogamy, consanguinity and community disease profiles.

21 January 2018

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Identification of a new candidate locus for uric acid nephrolithiasis

21 January 2018

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Nephrolithiasis related to inborn metabolic diseases

21 January 2018

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Mutations in the gene encoding B1 subunit of H+-ATPase cause renal tubular acidosis with sensorineural deafness

21 January 2018

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Renal tubular acidosis: developments in our understanding of the molecular basis

21 January 2018

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Hypophosphatemic rickets with hypercalciuria due to mutation in SLC34A3/type IIc sodium-phosphate cotransporter: presentation as hypercalciuria and nephrolithiasis

21 January 2018

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Nephrolithiasis and osteoporosis associated with hypophosphatemia caused by mutations in the type 2a sodium-phosphate cotransporter

21 January 2018

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Fibroblast growth factor 23 is increased in calcium nephrolithiasis with hypophosphatemia and renal phosphate leak.

21 January 2018

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Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome.

21 January 2018

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Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.

21 January 2018

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Predictive value of kidney stone composition in the detection of metabolic abnormalities

21 January 2018

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21 January 2018

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Peculiar morphology of stones in primary hyperoxaluria

21 January 2018

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Clinical utility gene card for: Cystinuria.

21 January 2018

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The oesophagus and chest pain

21 January 2018

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Clinical, biochemical and molecular diagnosis of a compound homozygote for the 254 bp deletion-8 bp insertion of the APRT gene suffering from severe renal failure.

21 January 2018

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Clinical utility gene card for: Lesch-Nyhan syndrome

21 January 2018

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Evaluation of mutation screening as a first line test for the diagnosis of the primary hyperoxalurias.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS545

Primary hyperoxaluria type III gene HOGA1 (formerly DHDPSL) as a possible risk factor for idiopathic calcium oxalate urolithiasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS545

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS545

Genetic causes of hypercalciuric nephrolithiasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFS545

21 January 2018

Identifiers

DOI

10.1093/NDT/GFS545

1 reference

28 August 2017

1 reference