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Genetic and genomic systems to study methylmalonic acidemia.
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stated in
Europe PubMed Central
PMC publication ID
2657357
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16182581%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 January 2020
review article
1 reference
stated in
Europe PubMed Central
title
Genetic and genomic systems to study methylmalonic acidemia
(English)
1 reference
stated in
Europe PubMed Central
PMC publication ID
2657357
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16182581%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 January 2020
author
Randy Chandler
series ordinal
1
1 reference
stated in
Europe PubMed Central
PMC publication ID
2657357
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16182581%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 January 2020
author name string
C P Venditti
series ordinal
2
1 reference
stated in
Europe PubMed Central
PMC publication ID
2657357
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16182581%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 January 2020
publication date
22 September 2005
1 reference
stated in
Europe PubMed Central
PMC publication ID
2657357
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16182581%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 January 2020
published in
Molecular Genetics and Metabolism
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stated in
Europe PubMed Central
PMC publication ID
2657357
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16182581%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 January 2020
volume
86
1 reference
stated in
Europe PubMed Central
PMC publication ID
2657357
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16182581%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 January 2020
issue
1-2
1 reference
stated in
Europe PubMed Central
PMC publication ID
2657357
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16182581%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 January 2020
page(s)
34-43
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Europe PubMed Central
PMC publication ID
2657357
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16182581%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 January 2020
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6 July 2018
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6 July 2018
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6 July 2018
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6 July 2018
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6 July 2018
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6 July 2018
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6 July 2018
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6 July 2018
Mutation eliminating mitochondrial leader sequence of methylmalonyl-CoA mutase causes muto methylmalonic acidemia
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6 July 2018
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6 July 2018
Cloning and expression of a mutant methylmalonyl coenzyme A mutase with altered cobalamin affinity that causes mut- methylmalonic aciduria
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6 July 2018
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.
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27 October 2018
The structural basis for methylmalonic aciduria. The crystal structure of archaeal ATP:cobalamin adenosyltransferase
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27 October 2018
MeaB is a component of the methylmalonyl-CoA mutase complex required for protection of the enzyme from inactivation.
1 reference
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reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657357
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27 October 2018
Novel mutations in a Thai patient with methylmalonic acidemia.
1 reference
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reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657357
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27 October 2018
HPLC assay for methylmalonyl-CoA epimerase
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657357
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27 October 2018
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver
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PubMed Central
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657357
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27 October 2018
Metabolic stroke in methylmalonic acidemia five years after liver transplantation
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PubMed Central
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657357
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27 October 2018
Mutation analysis of the MCM gene in Israeli patients with mut(0) disease
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PubMed Central
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27 October 2018
Propionate metabolism in Saccharomyces cerevisiae: implications for the metabolon hypothesis.
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27 October 2018
Methylmalonic aciduria. An inborn error leading to metabolic acidosis, long-chain ketonuria and intermittent hyperglycinemia
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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2657357
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27 October 2018
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program
1 reference
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12 December 2020
based on heuristic
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The management of organic acidaemias: the role of transplantation
1 reference
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https://pubmed.ncbi.nlm.nih.gov/16182581
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Methylmalonic Aciduria: Metabolic Block Localization and Vitamin B 12 Dependency
1 reference
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PubMed
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https://pubmed.ncbi.nlm.nih.gov/16182581
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12 December 2020
based on heuristic
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Interactions of methylmalonyl CoA mutase from normal human fibroblasts with adenosylcobalamin and methylmalonyl CoA: evidence for non-equivalent active sites
1 reference
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https://pubmed.ncbi.nlm.nih.gov/16182581
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Expression of recombinant human methylmalonyl-CoA mutase: in primary mut fibroblasts and Saccharomyces cerevisiae
1 reference
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https://pubmed.ncbi.nlm.nih.gov/16182581
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12 December 2020
based on heuristic
inferred from PubMed ID database lookup
Identification of two novel mutations in the methylmalonyl-CoA mutase gene with decreased levels of mutant mRNA in methylmalonic acidemia
1 reference
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https://pubmed.ncbi.nlm.nih.gov/16182581
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12 December 2020
based on heuristic
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Long-term follow-up of 77 patients with isolated methylmalonic acidaemia
1 reference
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12 December 2020
based on heuristic
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Combined liver-kidney transplantation in methylmalonic acidemia
1 reference
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https://pubmed.ncbi.nlm.nih.gov/16182581
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12 December 2020
based on heuristic
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Identifiers
DOI
10.1016/J.YMGME.2005.07.020
1 reference
stated in
Europe PubMed Central
PMC publication ID
2657357
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16182581%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 January 2020
PMC publication ID
2657357
1 reference
stated in
Europe PubMed Central
PMC publication ID
2657357
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16182581%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 January 2020
PubMed publication ID
16182581
1 reference
stated in
Europe PubMed Central
PMC publication ID
2657357
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:16182581%20AND%20SRC:MED&resulttype=core&format=json
retrieved
7 January 2020
ResearchGate publication ID
7580793
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