(Q33283258)

25 July 2017

title

Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes (English)

1 reference

methylmalonyl-CoA mutase deficiency

25 July 2017

1 reference

1 reference

Stephen Strom

7

0 references

author name string

Randy J Chandler

1

1 reference

25 July 2017

Matthew S Tsai

2

1 reference

25 July 2017

Kenneth Dorko

3

1 reference

25 July 2017

Jennifer Sloan

4

1 reference

25 July 2017

Mark Korson

5

1 reference

25 July 2017

Richard Freeman

6

1 reference

25 July 2017

Charles P Venditti

8

1 reference

25 July 2017

language of work or name

1 reference

30 April 2007

1 reference

25 July 2017

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25 July 2017

volume

8

1 reference

25 July 2017

page(s)

24

1 reference

https://scigraph.springernature.com/pub.10.1186/1471-2350-8-24

25 July 2017

exact match

0 references

cites work

Current role of liver transplantation for methylmalonic acidemia: a review of the literature

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Hepatocyte transplantation: clinical experience and potential for future use.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Genetic and genomic systems to study methylmalonic acidemia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Methylmalonic and propionic acidaemias: management and outcome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

A simple method for the rapid generation of recombinant adenovirus vectors

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

The use of human hepatocyte cultures to study the induction of cytochrome P-450.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Neurological outcome of methylmalonic acidaemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Pancreatitis in patients with organic acidemias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Clustering of mutations in methylmalonyl CoA mutase associated with mut- methylmalonic acidemia

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Metabolic response to carnitine in methylmalonic aciduria. An effective strategy for elimination of propionyl groups

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

The Natural History of the Inherited Methylmalonic Acidemias

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Methylmalonic aciduria. An inborn error of metabolism leading to chronic metabolic acidosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Bilateral lucency of the globus pallidus complicating methylmalonic acidemia.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Immunochemical studies of fibroblasts from patients with methylmalonyl-CoA mutase apoenzyme deficiency: detection of a mutation interfering with mitochondrial import

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Primary structure and activity of mouse methylmalonyl-CoA mutase

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Differential diagnosis of mut and cbl methylmalonic aciduria by DNA-mediated gene transfer in primary fibroblasts

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Genetic characterization of a MUT locus mutation discriminating heterogeneity in mut0 and mut- methylmalonic aciduria by interallelic complementation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Correction of methylmalonyl-CoA mutase deficiency in Mut0 fibroblasts and constitution of gene expression in primary human hepatocytes by retroviral-mediated gene transfer

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Propionate metabolism in cultured human cells after overexpression of recombinant methylmalonyl CoA mutase: implications for somatic gene therapy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1876207

Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene.

21 June 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-24

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-24

Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-24

Metabolic stroke in methylmalonic acidemia five years after liver transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-24

Differences in the human and mouse amino-terminal leader peptides of ornithine transcarbamylase affect mitochondrial import and efficacy of adenoviral vectors

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-24

Management of methylmalonic acidaemia by combined liver-kidney transplantation

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-24

Domino liver transplantation in maple syrup urine disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1186%2F1471-2350-8-24

Acute extrapyramidal syndrome in methylmalonic acidemia: “Metabolic stroke” involving the globus pallidus

21 January 2018

1 reference

12 December 2020

Long-term follow-up of 77 patients with isolated methylmalonic acidaemia

1 reference

12 December 2020

Use of human hepatocytes to study P450 gene induction

1 reference

12 December 2020

Combined liver-kidney transplantation in methylmalonic acidemia

1 reference

12 December 2020

Principles of therapeutic liver repopulation

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

Identifiers

DOI

10.1186/1471-2350-8-24

1 reference

Dimensions Publication ID

25 July 2017

0 references

1 reference

25 July 2017

1 reference