DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria (Q34310906)

1 August 2017

0 references

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria (English)

1 reference

1 August 2017

11

1 reference

1 August 2017

Holger Prokisch

13

0 references

Tobias B Haack

3

object named as

Tobias B Haack

1 reference

1 August 2017

1

Katharina Danhauser

1 reference

1 August 2017

4

Thomas Wieland

1 reference

1 August 2017

8

Tim M Strom

1 reference

1 August 2017

14

Stefan Kölker

1 reference

1 August 2017

2

Sven W Sauer

1 reference

1 August 2017

5

Christian Staufner

1 reference

1 August 2017

Elisabeth Graf

6

1 reference

1 August 2017

Johannes Zschocke

7

1 reference

1 August 2017

Thorsten Traub

9

1 reference

1 August 2017

Jürgen G Okun

10

1 reference

1 August 2017

Georg F Hoffmann

12

1 reference

1 August 2017

language of work or name

English

0 references

publication date

8 November 2012

1 reference

American Journal of Human Genetics

1 August 2017

published in

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1 August 2017

volume

91

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1 August 2017

issue

6

1 reference

1 August 2017

page(s)

1082-1087

1 reference

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

1 August 2017

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516599

Detection of 2-hydroxyglutarate in formalin-fixed paraffin-embedded glioma specimens by gas chromatography/mass spectrometry

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516599

MutationTaster evaluates disease-causing potential of sequence alterations

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516599

Structure-function relationships in the 2-oxo acid dehydrogenase family: substrate-specific signatures and functional predictions for the 2-oxoglutarate dehydrogenase-like proteins

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516599

Identification of the human mitochondrial oxodicarboxylate carrier. Bacterial expression, reconstitution, functional characterization, tissue distribution, and chromosomal location

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516599

Inborn errors of the Krebs cycle: a group of unusual mitochondrial diseases in human

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516599

Therapeutic modulation of cerebral l-lysine metabolism in a mouse model for glutaric aciduria type I

6 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516599

Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3516599

Alpha-ketoadipic aciduria, a new inborn error of lysine metabolism; biochemical studies

28 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23141293

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A patient with alpha-ketoadipic and alpha-aminoadipic aciduria

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23141293

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Treatment with vigabatrin may mimic alpha-aminoadipic aciduria

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23141293

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2012.10.006

1 reference

1 August 2017

1 reference

1 August 2017

1 reference