Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy (Q48004460)

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scientific article published on 5 January 2017

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English	Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy	scientific article published on 5 January 2017

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scholarly article

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Europe PubMed Central

PubMed publication ID

28058510

retrieved

7 February 2018

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http://europepmc.org/abstract/MED/28058510

title

Homozygous mutation, p.Pro304His, in IDH3A, encoding isocitrate dehydrogenase subunit is associated with severe encephalopathy in infancy (English)

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stated in

Europe PubMed Central

PubMed publication ID

28058510

retrieved

7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

main subject

homozygosity

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based on heuristic

inferred from title

infancy stage

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inferred from title

author

Ophry Pines

series ordinal

8

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Europe PubMed Central

PubMed publication ID

28058510

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7 February 2018

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http://europepmc.org/abstract/MED/28058510

Aviva Fattal-Valevski

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1

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Aviva Fattal-Valevski

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Europe PubMed Central

PubMed publication ID

28058510

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7 February 2018

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http://europepmc.org/abstract/MED/28058510

author name string

Hila Eliyahu

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2

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Europe PubMed Central

PubMed publication ID

28058510

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7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

NItai D Fraenkel

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3

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Europe PubMed Central

PubMed publication ID

28058510

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7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

Ganit Elmaliach

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4

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Europe PubMed Central

PubMed publication ID

28058510

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7 February 2018

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http://europepmc.org/abstract/MED/28058510

Moran Hausman-Kedem

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5

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Europe PubMed Central

PubMed publication ID

28058510

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7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

Avraham Shaag

series ordinal

6

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Europe PubMed Central

PubMed publication ID

28058510

retrieved

7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

Dror Mandel

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7

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28058510

retrieved

7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

Orly Elpeleg

series ordinal

9

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28058510

retrieved

7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

publication date

5 January 2017

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Europe PubMed Central

PubMed publication ID

28058510

retrieved

7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

published in

Neurogenetics

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Europe PubMed Central

PubMed publication ID

28058510

retrieved

7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

volume

18

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Europe PubMed Central

PubMed publication ID

28058510

retrieved

7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

issue

1

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Europe PubMed Central

PubMed publication ID

28058510

retrieved

7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

page(s)

57-61

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PubMed publication ID

28058510

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7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

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Mitochondrial dysfunction and oxidative stress in neurodegenerative diseases

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21 January 2018

Identification of Mn2+-binding aspartates from alpha, beta, and gamma subunits of human NAD-dependent isocitrate dehydrogenase

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21 January 2018

Diphosphopyridine nucleotide dependent isocitrate dehydrogenase from pig heart. Charactgerization of the active substrate and modes of regulation.

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21 January 2018

Infantile cerebellar-retinal degeneration associated with a mutation in mitochondrial aconitase, ACO2.

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21 January 2018

Mutant deoxynucleotide carrier is associated with congenital microcephaly

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21 January 2018

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

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21 January 2018

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency

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21 January 2018

Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency

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21 January 2018

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

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21 January 2018

Isocitrate dehydrogenase (IDH), succinate dehydrogenase (SDH), fumarate hydratase (FH): three players for one phenotype in cancer?

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21 January 2018

Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle

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21 January 2018

Liver Disease in the Ashkenazi-Jewish Lipoamide Dehydrogenase Deficiency

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28058510

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Subunit location and sequences of the cysteinyl peptides of pig heart NAD-dependent isocitrate dehydrogenase

1 reference

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PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28058510

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28058510

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

NAD(+)-dependent isocitrate dehydrogenase. Cloning, nucleotide sequence, and disruption of the IDH2 gene from Saccharomyces cerevisiae.

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28058510

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lipoamide dehydrogenase deficiency: a new cause for recurrent myoglobinuria

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28058510

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Physiological consequences of loss of allosteric activation of yeast NAD+-specific isocitrate dehydrogenase

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28058510

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Lipoamide Dehydrogenase Deficiency Due to a Novel Mutation in the Interface Domain

1 reference

stated in

PubMed

reference URL

https://pubmed.ncbi.nlm.nih.gov/28058510

retrieved

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

DOI

10.1007/S10048-016-0507-Z

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28058510

retrieved

7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

PubMed publication ID

28058510

1 reference

stated in

Europe PubMed Central

PubMed publication ID

28058510

retrieved

7 February 2018

reference URL

http://europepmc.org/abstract/MED/28058510

 

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