Muscle involvement in Dent disease 2. (Q53276223)

12 May 2018

title

Muscle involvement in Dent disease 2. (English)

1 reference

12 May 2018

1 reference

Eujin Park

1

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author name string

Hyun Jin Choi

2

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12 May 2018

Jiwon M Lee

3

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12 May 2018

Yo Han Ahn

4

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12 May 2018

Hee Gyung Kang

5

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12 May 2018

Yoo Mee Choi

6

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12 May 2018

Se Jin Park

7

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12 May 2018

Hee Yeon Cho

8

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12 May 2018

Yong-Hoon Park

9

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12 May 2018

Seung Joo Lee

10

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12 May 2018

Il Soo Ha

11

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12 May 2018

Hae Il Cheong

12

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12 May 2018

publication date

7 June 2014

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12 May 2018

number of pages

6

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inferred from page(s)

published in

Pediatric Nephrology

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12 May 2018

volume

29

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12 May 2018

page(s)

2127-2132

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12 May 2018

issue

11

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12 May 2018

https://scigraph.springernature.com/pub.10.1007/s00467-014-2841-4

exact match

0 references

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

A common molecular basis for three inherited kidney stone diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Idiopathic low molecular weight proteinuria associated with hypercalciuric nephrocalcinosis in Japanese children is due to mutations of the renal chloride channel (CLCN5)

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Chloride/proton antiporter activity of mammalian CLC proteins ClC-4 and ClC-5.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Voltage-dependent electrogenic chloride/proton exchange by endosomal CLC proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Dent Disease with mutations in OCRL1

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

OCRL1 mutations in Dent 2 patients suggest a mechanism for phenotypic variability

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Renal manifestations of Dent disease and Lowe syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

OCRL1 mutations in patients with Dent disease phenotype in Japan

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Novel OCRL1 mutations in patients with the phenotype of Dent disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

The Lowe's oculocerebrorenal syndrome gene encodes a protein highly homologous to inositol polyphosphate-5-phosphatase

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Renal phenotype in Lowe Syndrome: a selective proximal tubular dysfunction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Dent-2 disease: a mild variant of Lowe syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Clinical and laboratory features of Macedonian children with OCRL mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

OCRL1 mutation in a boy with Dent disease, mild mental retardation, but without cataracts.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Decreased renal uptake of (99m)Tc-DMSA in patients with tubular proteinuria.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Clinical and laboratory findings in the oculocerebrorenal syndrome of Lowe, with special reference to growth and renal function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Congenital fiber type disproportion myopathy in Lowe syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS00467-014-2841-4

Mitochondrial defects in Lowe's oculocerebrorenal syndrome

21 January 2018

1 reference

12 December 2020

The oculocerebrorenal syndrome gene product is a 105-kD protein localized to the Golgi complex

1 reference

12 December 2020

Metabolic support of Na+ pump in apically permeabilized A6 kidney cell epithelia: role of creatine kinase

1 reference

12 December 2020

A premature termination mutation in a patient with Lowe syndrome without congenital cataracts: dropping the "O" in OCRL.

1 reference

12 December 2020

[Muscle fiber involvement in Lowe syndrome]

1 reference

12 December 2020

10.1007/S00467-014-2841-4

Identifiers

DOI

1 reference

12 May 2018

PubMed ID

24912603

1 reference

12 May 2018