Mouse models for methylmalonic aciduria (Q34336606)

1 August 2017

Mouse models for methylmalonic aciduria (English)

1 reference

1 August 2017

Heidi L Peters

1

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1 August 2017

James J Pitt

2

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1 August 2017

Leonie R Wood

3

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1 August 2017

Natasha J Hamilton

4

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1 August 2017

Joseph P Sarsero

5

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1 August 2017

Nicole E Buck

6

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1 August 2017

language of work or name

English

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publication date

9 July 2012

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1 August 2017

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1 August 2017

7

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1 August 2017

7

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1 August 2017

e40609

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Creative Commons Attribution 4.0 International

1 August 2017

start time

9 July 2012

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

Stop codon read-through of a methylmalonic aciduria mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

Gene induction for the treatment of methylmalonic aciduria

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

Site-specific, Rep-mediated integration of the intact beta-globin locus in the human erythroleukaemic cell line K562.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

Branched-chain amino acids: enzyme and substrate regulation.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

Methylmalonic acid measured in plasma and urine by stable-isotope dilution and electrospray tandem mass spectrometry.

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

A molecular model of human branched-chain amino acid metabolism

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

Erythroblastopenia associated with methylmalonic aciduria. Case report and in vitro studies

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

Pancreatitis in patients with organic acidemias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

Genomic structure of murine methylmalonyl-CoA mutase: evidence for genetic and epigenetic mechanisms determining enzyme activity

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

The management and outcome of propionic and methylmalonic acidaemia

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

The Natural History of the Inherited Methylmalonic Acidemias

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

Inherited methylmalonyl CoA mutase apoenzyme deficiency in human fibroblasts: evidence for allelic heterogeneity, genetic compounds, and codominant expression

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

Primary structure and activity of mouse methylmalonyl-CoA mutase

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

Localization of the murine methylmalonyl CoA mutase (Mut) locus on chromosome 17 by in situ hybridization

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

Resting energy expenditure in disorders of propionate metabolism.

6 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0040609

The impact of screening for propionic and methylmalonic acidaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0040609

Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0040609

Chromosome integration of BAC (bacterial artificial chromosome): evidence of multiple rearrangements

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0040609

Rapid diagnosis of methylmalonic and propionic acidemias: quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns

21 January 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3392231

Methylmalonic acidemia. A disorder associated with acidosis, hyperglycinemia, and hyperlactatemia

27 October 2018

1 reference

12 December 2020

Rapid prenatal and postnatal detection of inborn errors of propionate, methylmalonate, and cobalamin metabolism: a sensitive assay using cultured cells

1 reference

12 December 2020

Inhibition of bone marrow stem cell growth in vitro by methylmalonic acid: a mechanism for pancytopenia in a patient with methylmalonic acidemia

1 reference

12 December 2020

Immune functions in methylmalonicaciduria

1 reference

12 December 2020

Behavior management of feeding disturbances in urea cycle and organic acid disorders

1 reference

12 December 2020

Parenteral nutrition in propionic and methylmalonic acidemia

1 reference

12 December 2020

Infectious complications of propionic acidemia in Saudia Arabia

1 reference

12 December 2020

10.1371/JOURNAL.PONE.0040609

Identifiers

DOI

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1 August 2017

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1 August 2017

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