(Q44637517)

4 December 2017

title

Two heterozygous mutations of CLDN16 in a Japanese patient with FHHNC (English)

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00467-003-1304-0

26 March 2024

1 reference

1 reference

1 reference

https://api.crossref.org/works/10.1007/S00467-003-1304-0

26 March 2024

author name string

Toshihiro Tajima

series ordinal

1

1 reference

4 December 2017

Jun Nakae

series ordinal

2

1 reference

4 December 2017

Kenji Fujieda

series ordinal

3

1 reference

4 December 2017

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=14586675

26 March 2024

publication date

30 October 2003

1 reference

full work available at URL

4 December 2017

http://link.springer.com/content/pdf/10.1007/s00467-003-1304-0.pdf

file format

Portable Document Format

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00467-003-1304-0

http://link.springer.com/article/10.1007/s00467-003-1304-0/fulltext.html

26 March 2024

1 reference

https://api.crossref.org/works/10.1007/S00467-003-1304-0

http://link.springer.com/content/pdf/10.1007/s00467-003-1304-0

26 March 2024

1 reference

Crossref

https://api.crossref.org/works/10.1007/S00467-003-1304-0

26 March 2024

1 reference

4 December 2017

volume

18

1 reference

4 December 2017

issue

12

1 reference

4 December 2017

page(s)

1280-1282

1 reference

https://scigraph.springernature.com/pub.10.1007/s00467-003-1304-0

4 December 2017

exact match

0 references

cites work

Pathophysiology of the renal acidification defect present in the syndrome of familial hypomagnesaemia-hypercalciuria

1 reference

12 December 2020

Hypomagnesaemia-hypercalciuria-nephrocalcinosis: a report of nine cases and a review

1 reference

12 December 2020

Follow-up of five patients with FHHNC due to mutations in the Paracellin-1 gene

1 reference

12 December 2020

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1 reference

12 December 2020

Familial hypomagnesemia-hypercalciuria in 2 siblings.

1 reference

12 December 2020

Familial hypomagnesaemia with hypercalciuria and nephrocalcinosis maps to chromosome 3q27 and is associated with mutations in the PCLN-1 gene

1 reference

12 December 2020

Paracellin-1 is critical for magnesium and calcium reabsorption in the human thick ascending limb of Henle

1 reference

12 December 2020

Renal magnesium wasting, incomplete tubular acidosis, hypercalciuria and nephrocalcinosis in siblings

1 reference

12 December 2020

Decreased bicarbonate threshold and renal magnesium wasting in a sibship with distal renal tubular acidosis. (Evaluation of the pathophysiological role of parathyroid hormone)

1 reference

12 December 2020

Novel paracellin-1 mutations in 25 families with familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1 reference

12 December 2020

Familial hypomagnesemia with hypercalciuria and nephrocalcinosis

1 reference

12 December 2020

Paracellin-1, a renal tight junction protein required for paracellular Mg2+ resorption

1 reference

12 December 2020

Identifiers

1 reference

4 December 2017

1 reference