(Q47856998)

6 February 2018

title

Respiratory chain deficiency presenting as congenital nephrotic syndrome (English)

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6 February 2018

author

Marie-Claire Gubler

14

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6 February 2018

Corinne Antignac

object named as

Corinne Antignac

13

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Valérie Cormier-Daire

object named as

Valérie Cormier-Daire

4

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Arnold Munnich

11

object named as

Arnold Munnich

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6 February 2018

9

Agnès Rötig

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6 February 2018

Alice Goldenberg

1

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Linh Huynh Ngoc

2

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Marie-Christine Thouret

3

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Marie-France Gagnadoux

5

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Dominique Chrétien

6

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Catherine Lefrançois

7

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Vanna Geromel

8

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Pierre Rustin

10

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Véronique Paquis

12

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Patrick Niaudet

15

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Pascale de Lonlay

16

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Etienne Bérard

17

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6 February 2018

publication date

29 January 2005

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6 February 2018

published in

Pediatric Nephrology

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6 February 2018

volume

20

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6 February 2018

issue

4

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page(s)

465-469

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6 February 2018

https://scigraph.springernature.com/pub.10.1007/s00467-004-1725-4

exact match

0 references

cites work

Mitochondrial cytopathy presenting with focal segmental glomerulosclerosis, hypoparathyroidism, sensorineural deafness, and progressive neurological disease

1 reference

12 December 2020

NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome

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12 December 2020

Nephrotic syndrome in the 1st year of life

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12 December 2020

Focal segmental glomerulosclerosis associated with mitochondrial cytopathy

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12 December 2020

Renal complications in a patient with A-to-G mutation of mitochondrial DNA at the 3243 position of leucine tRNA.

1 reference

12 December 2020

Mitochondrial encephalomyopathies preceded by de-Toni-Debré-Fanconi syndrome or focal segmental glomerulosclerosis

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12 December 2020

Congenital nephrotic syndromes

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12 December 2020

Mutations in ACTN4, encoding alpha-actinin-4, cause familial focal segmental glomerulosclerosis

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12 December 2020

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

1 reference

12 December 2020

Positionally cloned gene for a novel glomerular protein--nephrin--is mutated in congenital nephrotic syndrome

1 reference

12 December 2020

The nephropathy associated with male pseudohermaphroditism and Wilms' tumor (Drash syndrome): a distinctive glomerular lesion--report of 10 cases

1 reference

12 December 2020

Altered gene expression and functions of mitochondria in human nephrotic syndrome

1 reference

12 December 2020

Renal complications in patients with diabetes mellitus associated with an A to G mutation of mitochondrial DNA at the 3243 position of leucine tRNA

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial dysfunction in congenital nephrotic syndrome

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12 December 2020

Renal tubular involvement mimicking Bartter syndrome in a patient with Kearns-Sayre syndrome.

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12 December 2020

Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis

1 reference

12 December 2020

Linkage of a Gene Causing Familial Focal Segmental Glomerulosclerosis to Chromosome 11 and Further Evidence of Genetic Heterogeneity

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12 December 2020

Kearns-Sayre syndrome presenting as renal tubular acidosis

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12 December 2020

Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy

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12 December 2020

Deletion of the mitochondrial DNA in a case of de Toni-Debr�-Fanconi syndrome and Pearson syndrome

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12 December 2020

Biochemical and molecular investigations in respiratory chain deficiencies

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12 December 2020

Genetics of the nephrotic syndrome

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12 December 2020

[A case of mitochondrial encephalomyopathy with nephrotic syndrome]

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12 December 2020

A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.

1 reference

12 December 2020

The kidney in mitochondrial cytopathies

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12 December 2020

Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency

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Renal involvement in mitochondrial cytopathies

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12 December 2020

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

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12 December 2020

Clinical spectrum and diagnosis of mitochondrial disorders

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12 December 2020

Clinical manifestations due to a point mutation of the mitochondrial tRNAleu(UUR) gene in five families with diabetes mellitus.

1 reference

12 December 2020

10.1007/S00467-004-1725-4

Identifiers

DOI

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6 February 2018

1 reference

6 February 2018