(Q81886349)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:15977024%20AND%20SRC:MED&resulttype=core&format=json

13 January 2020

title

Renal pathology in children with mitochondrial diseases (English)

1 reference

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13 January 2020

1 reference

8

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13 January 2020

Joaquín Arenas

9

1 reference

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13 January 2020

author name string

Elena Martín-Hernández

1

1 reference

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13 January 2020

M Teresa García-Silva

2

1 reference

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13 January 2020

Julia Vara

3

1 reference

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13 January 2020

Yolanda Campos

4

1 reference

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13 January 2020

Ana Cabello

5

1 reference

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13 January 2020

Rafael Muley

6

1 reference

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13 January 2020

Pilar Del Hoyo

7

1 reference

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13 January 2020

publication date

24 June 2005

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13 January 2020

1 reference

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13 January 2020

volume

20

1 reference

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13 January 2020

issue

9

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13 January 2020

page(s)

1299-1305

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https://scigraph.springernature.com/pub.10.1007/s00467-005-1948-z

13 January 2020

exact match

0 references

cites work

Hereditary mitochondrial myopathy with lactic acidemia, a De Toni-Fanconi-Debré syndrome, and a defective respiratory chain in voluntary striated muscles

1 reference

12 December 2020

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

1 reference

12 December 2020

Kearns-Sayre syndrome associated with de Toni-Debré-Fanconi syndrome due to cytochrome-c-oxidase (COX) deficiency

1 reference

12 December 2020

Renal disease and mitochondrial genetics.

1 reference

12 December 2020

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

1 reference

12 December 2020

de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiency

1 reference

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

Renal Fanconi syndrome: first sign of partial respiratory chain complex IV deficiency

1 reference

12 December 2020

Atypical presentation of multisystem disorders in two girls with mitochondrial DNA deletions.

1 reference

12 December 2020

Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.

1 reference

12 December 2020

Clinical presentation of mitochondrial disorders in childhood.

1 reference

12 December 2020

Diagnostic criteria for respiratory chain disorders in adults and children.

1 reference

12 December 2020

Cytochrome c oxidase deficiency in Leigh syndrome.

1 reference

12 December 2020

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

1 reference

12 December 2020

Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis

1 reference

12 December 2020

Mitochondrial tubulopathy: the many faces of mitochondrial disorders.

1 reference

12 December 2020

Severe hypomagnesemia and hypoparathyroidism in Kearns-Sayre syndrome.

1 reference

12 December 2020

Pearson's syndrome presenting with Fanconi syndrome

1 reference

12 December 2020

Clinical and diagnostic characteristics of complex III deficiency due to mutations in the BCS1L gene

1 reference

12 December 2020

Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion

1 reference

12 December 2020

Renal manifestations of congenital lactic acidosis

1 reference

12 December 2020

Pearson syndrome and mitochondrial encephalomyopathy in a patient with a deletion of mtDNA.

1 reference

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

Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA

1 reference

12 December 2020

Mitochondrial genome mutations and kidney disease

1 reference

12 December 2020

Neonatal Fanconi syndrome due to deficiency of complex III of the respiratory chain

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial disorders and the kidney

1 reference

12 December 2020

A case of Pearson syndrome associated with multiple renal cysts

1 reference

12 December 2020

Tubulointerstitial nephritis associated with a novel mitochondrial point mutation

1 reference

12 December 2020

Renal and skin involvement in a patient with complete Kearns-Sayre syndrome

1 reference

12 December 2020

Mitochondrial DNA deletion in a patient with mitochondrial myopathy, lactic acidosis, and stroke-like episodes (MELAS) and Fanconi's syndrome.

1 reference

12 December 2020

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: immunological studies in a new patient

1 reference

12 December 2020