(Q47776385)

English

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene.

scientific article published in May 2005

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scholarly article

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

Mitochondrial myopathy, sideroblastic anemia, and lactic acidosis: an autosomal recessive syndrome in Persian Jews caused by a mutation in the PUS1 gene. (English)

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

lactic acidosis

1 reference

based on heuristic

inferred from title

mitochondrial myopathy

1 reference

based on heuristic

inferred from title

Tally Lerman-Sagie

8

object named as

Tally Lerman-Sagie

1 reference

Europe PubMed Central

5 February 2018

6

object named as

Dorit Lev

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

author name string

Avraham Zeharia

1

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

Nathan Fischel-Ghodsian

2

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

Kari Casas

3

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

Yelena Bykhocskaya

4

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

Hana Tamari

5

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

Marc Mimouni

7

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

publication date

1 May 2005

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

Journal of Child Neurology

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

20

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

5

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

449-452

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

Sideroblastic anemia: a mitochondrial disorder

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Sideroblastic anaemia

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

A new syndrome of refractory sideroblastic anemia with vacuolization of marrow precursors and exocrine pancreatic dysfunction

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Pearson's marrow-pancreas syndrome. A multisystem mitochondrial disorder in infancy

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Myopathy, lactic acidosis, and sideroblastic anemia: a new syndrome

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Mitochondrial myopathy and sideroblastic anemia

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Concise review: genetic bases for sideroblastic anemia

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Multiple deletions of mtDNA in two brothers with sideroblastic anemia and motochondrial myopathy and in their asymptomatic mother

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Mutation of a putative mitochondrial iron transporter gene (ABC7) in X-linked sideroblastic anemia and ataxia (XLSA/A)

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Deletion of mitochondrial DNA in a case of early-onset diabetes mellitus, optic atrophy, and deafness (Wolfram syndrome, MIM 222300).

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Thiamine-responsive anemia in DIDMOAD syndrome

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

A nuclear defect in the 4p16 region predisposes to multiple mitochondrial DNA deletions in families with Wolfram syndrome

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

1 reference

https://api.crossref.org/works/10.1177%2F08830738050200051301

21 January 2018

Identifiers

10.1177/08830738050200051301

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

1 reference

Europe PubMed Central

5 February 2018

http://europepmc.org/abstract/MED/15971356

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