(Q48168415)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

title

Relationship of causative genetic mutations in maple syrup urine disease with their clinical expression (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

maple syrup urine disease

20 December 2019

main subject

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

author name string

Mary M Nellis

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Martha Carlson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Richard Allen

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Anna Marie Schaefer

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Edward M Schwartz

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

Dean J Danner

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

publication date

1 September 2003

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

20 December 2019

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

volume

80

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

issue

1-2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

page(s)

189-195

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

Determinants of protein turnover in health and disease

20 December 2019

cites work

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Stimulation of insulin secretion by amino acids

1 reference

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7 January 2021

EVIDENCE THAT INSULIN RELEASE IS THE MECHANISM FOR EXPERIMENTALLY INDUCED LEUCINE HYPOGLYCEMIA IN MAN

1 reference

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7 January 2021

Brain metabolism of branched-chain amino acids

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Maple syrup urine disease 1954 to 1993.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Human mutations affecting branched chain alpha-ketoacid dehydrogenase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Maple syrup urine disease: clinical, EEG, and plasma amino acid correlations with a theoretical mechanism of acute neurotoxicity

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Brain amino acid metabolism and ketosis

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Management of acute metabolic decompensation in maple syrup urine disease: a multi-center study

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Cerebral edema causing death in children with maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Treatment of the acute crisis in maple syrup urine disease

1 reference

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7 January 2021

The 2-oxo acid dehydrogenase complexes: recent advances

1 reference

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7 January 2021

Targeted disruption of the murine dihydrolipoamide dehydrogenase gene (Dld) results in perigastrulation lethality

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Functional analysis in Saccharomyces cerevisiae of naturally occurring amino acid substitutions in human dihydrolipoamide dehydrogenase

1 reference

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7 January 2021

Dihydrolipoyl dehydrogenase deficiency: a therapeutic trial with branched-chain amino acid restriction.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Gene preference in maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Monogenic traits are not simple: lessons from phenylketonuria

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Influence of subunit transcript and protein levels on formation of a mitochondrial multienzyme complex.

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Thiamin-responsive maple syrup urine disease in a patient antigenically missing dihydrolipoamide acyltransferase

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Practical methods to estimate whole body leucine oxidation in maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Intellectual performance of children with maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Crystal structure of human branched-chain alpha-ketoacid dehydrogenase and the molecular basis of multienzyme complex deficiency in maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

Two new mutations in the human E1 beta subunit of branched chain alpha-ketoacid dehydrogenase associated with maple syrup urine disease

1 reference

https://api.crossref.org/works/10.1016%2FS1096-7192%2803%2900144-6

7 January 2021

10.1016/S1096-7192(03)00144-6

Identifiers

DOI

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14567968%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

1 reference