(Q46307830)

21 December 2017

title

45-Year-old female with propionic acidemia, renal failure, and premature ovarian failure; late complications of propionic acidemia? (English)

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21 December 2017

premature ovarian failure

main subject

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1 reference

Christina Lam

1

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21 December 2017

Lourdes R Desviat

2

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21 December 2017

Celia Perez-Cerdá

3

1 reference

21 December 2017

Magdalena Ugarte

4

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21 December 2017

Bruce A Barshop

5

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21 December 2017

Stephen Cederbaum

6

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21 December 2017

publication date

22 April 2011

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21 December 2017

Molecular Genetics and Metabolism

published in

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21 December 2017

volume

103

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21 December 2017

issue

4

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21 December 2017

page(s)

338-340

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21 December 2017

Propionic acidemia: a clinical update

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Neurologic outcome of propionic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Asymptomatic propionyl CoA carboxylase deficiency in a 13-year-old girl

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Renal tubular dysfunction in methylmalonic acidaemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Tubulointerstitial nephritis in methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Propionic acidemia: mutation update and functional and structural effects of the variant alleles

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Genetic and phenotypic heterogeneity in ovarian failure: overview of selected candidate genes

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Oxidative stress and ATPase6 mutation is associated with primary ovarian insufficiency.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Long-term outcome in methylmalonic aciduria: a series of 30 French patients.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Comparison of cytosolic and mitochondrial enzyme alterations in the livers of propionic or methylmalonic acidemia: a reduction of cytochrome oxidase activity

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Clinical, pathological, and biochemical studies in a patient with propionic acidemia and fatal cardiomyopathy

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Mitochondrial dysfunction in mut methylmalonic acidemia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Profiling of oxidative stress in patients with inborn errors of metabolism

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

Unexpectedly high prevalence of the mild form of propionic acidemia in Japan: presence of a common mutation and possible clinical implications

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2011.04.007

10.1016/J.YMGME.2011.04.007

7 January 2021

Identifiers

DOI

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21 December 2017

PubMed ID

21549625

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21 December 2017