Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis. (Q50476058)

14 March 2018

title

Mitochondrial tRNALeu(UUR) mutation in a patient with steroid-resistant nephrotic syndrome and focal segmental glomerulosclerosis. (English)

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focal segmental glomerulosclerosis

main subject

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Löwik MM

1

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Hol FA

2

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Steenbergen EJ

3

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Wetzels JF

4

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van den Heuvel LP

5

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language of work or name

English

0 references

publication date

7 December 2004

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Nephrology Dialysis Transplantation

published in

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volume

20

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page(s)

336-341

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issue

2

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The genetic basis of FSGS and steroid-resistant nephrosis

cites work

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH546

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH546

Dystonia as a presenting feature of the 3243 mitochondrial DNA mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH546

Molecular pathology of MELAS and MERRF. The relationship between mutation load and clinical phenotypes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH546

Hereditary glomerulopathy associated with a mitochondrial tRNA(Leu) gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH546

Clinical and pathologic features of focal segmental glomerulosclerosis with mitochondrial tRNALeu(UUR) gene mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH546

The spectrum of systemic involvement in adults presenting with renal lesion and mitochondrial tRNA(Leu) gene mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH546

A case of mitochondrial cytopathy with a typical point mutation for MELAS, presenting with severe focal-segmental glomerulosclerosis as main clinical manifestation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH546

IgA nephropathy histologically resembling focal-segmental glomerulosclerosis: a clinicopathologic study of 18 cases.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FNDT%2FGFH546

21 January 2018

Identifiers

DOI

10.1093/NDT/GFH546

1 reference

14 March 2018

PubMed ID

15585516

1 reference

14 March 2018