(Q37001608)

17 August 2017

Generation of a hypomorphic model of propionic acidemia amenable to gene therapy testing (English)

1 reference

17 August 2017

0 references

1 reference

Adam J Guenzel

1

1 reference

17 August 2017

Sean E Hofherr

2

1 reference

17 August 2017

Matthew Hillestad

3

1 reference

17 August 2017

Mary Barry

4

1 reference

17 August 2017

Eric Weaver

5

1 reference

17 August 2017

Sarah Venezia

6

1 reference

17 August 2017

Jan P Kraus

7

1 reference

17 August 2017

Dietrich Matern

8

1 reference

17 August 2017

Michael A Barry

9

1 reference

17 August 2017

7 May 2013

1 reference

17 August 2017

1 reference

17 August 2017

21

1 reference

17 August 2017

7

1 reference

17 August 2017

1316-1323

1 reference

Acute management of propionic acidemia.

17 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Natural history of propionic acidemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Chronic management and health supervision of individuals with propionic acidemia.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Adeno-associated virus serotype 8 gene transfer rescues a neonatal lethal murine model of propionic acidemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Crystal structure of the α6β6 holoenzyme of propionyl-coenzyme A carboxylase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Interpretation and use of natriuretic peptides in non-congestive heart failure settings

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Evaluation and management of patients with propionic acidemia undergoing liver transplantation: a comprehensive review

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Methylmalonic and propionic aciduria

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Evaluation of polyethylene glycol modification of first-generation and helper-dependent adenoviral vectors to reduce innate immune responses

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Mitochondrial disorders: clinical presentation and diagnostic dilemmas

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Fatal propionic acidemia in mice lacking propionyl-CoA carboxylase and its rescue by postnatal, liver-specific supplementation via a transgene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

High incidence of propionic acidemia in greenland is due to a prevalent mutation, 1540insCCC, in the gene for the beta-subunit of propionyl CoA carboxylase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Overview of mutations in the PCCA and PCCB genes causing propionic acidemia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Emergency presentations of patients with methylmalonic acidemia, propionic acidemia and branched chain amino acidemia (MSUD).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Isolation and characterization of propionyl-CoA carboxylase from normal human liver. Evidence for a protomeric tetramer of nonidentical subunits

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Ablation of cyclase-associated protein 2 (CAP2) leads to cardiomyopathy.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Rapid, simple, and versatile manufacturing of recombinant adeno-associated viral vectors at scale.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Short-term rescue of neonatal lethality in a mouse model of propionic acidemia by gene therapy.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

MHC class I-restricted cytotoxic T lymphocytes to viral antigens destroy hepatocytes in mice infected with E1-deleted recombinant adenoviruses.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Localisation of enzymic defect in propionicacidaemia.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Regulation of the breakdown rates of biotin-containing proteins in Swiss 3T3-L1 cells

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Metabolic changes associated with hyperammonemia in patients with propionic acidemia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Coincidence of long QT syndrome and propionic acidemia

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Characterization of four variant forms of human propionyl-CoA carboxylase expressed in Escherichia coli

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Functional characterization of PCCA mutations causing propionic acidemia.

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Long-term survival after liver transplantation in children with metabolic disorders

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

4 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3708067

Potential relationship between genotype and clinical outcome in propionic acidaemia patients

4 September 2018

1 reference

12 December 2020

Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients

1 reference

12 December 2020

Idiopathic hyperglycinemia and hyperglycinuria: a new disorder of amino acid metabolism. I

1 reference

12 December 2020

Cardiomyopathy in propionic acidaemia

1 reference

12 December 2020

Purification of human liver propionyl-CoA carboxylase by carbon tetrachloride extraction and monomeric avidin affinity chromatography

1 reference

12 December 2020

Survey of health status and complications among propionic acidemia patients

1 reference

12 December 2020

Application of high resolution fast atom bombardment and constant B/E ratio linked scanning to the identification and analysis of acylcarnitines in metabolic disease

1 reference

12 December 2020

Blood levels of ammonia and nitrogen scavenging amino acids in patients with inherited hyperammonemia

1 reference

12 December 2020

Prolonged QTc intervals and decreased left ventricular contractility in patients with propionic acidemia

1 reference

12 December 2020

Propionic acidemia: neonatal versus selective metabolic screening

1 reference

12 December 2020

Propionic acidemia: identification of twenty-four novel mutations in Europe and North America

1 reference

12 December 2020

Propionic acidemia: a rare cause of cardiomyopathy

1 reference

12 December 2020

Overview of mutations in thePCCA andPCCB genes causing propionic acidemia

1 reference

Crossref

https://api.crossref.org/works/10.1038%2FMT.2013.68

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1038/MT.2013.68

1 reference

17 August 2017

1 reference

17 August 2017

PubMed publication ID

23648696

1 reference