Genetic basis of hyperlysinemia (Q21093166)

7 August 2022

Matthias R Baumgartner

9

object named as

Matthias R Baumgartner

Matthias R

Baumgartner

1 reference

Persephone Augoustides-Savvopoulou

7 August 2022

7

object named as

Persephone Augoustides-Savvopoulou

Persephone

Augoustides-Savvopoulou

1 reference

7 August 2022

15

Marinus

Duran

Marinus Duran

1 reference

7 August 2022

14

Ronald JA

Wanders

Ronald Ja Wanders

1 reference

7 August 2022

Heleen Te Brinke

2

Heleen

te Brinke

1 reference

7 August 2022

Simone Denis

3

Simone

Denis

1 reference

7 August 2022

Jos Pn Ruiter

4

Jos PN

Ruiter

1 reference

7 August 2022

Alida C Knegt

5

Alida C

Knegt

1 reference

7 August 2022

Johannis Bc de Klerk

6

Johannis BC

de Klerk

1 reference

7 August 2022

Johannes Häberle

8

Johannes

Häberle

1 reference

7 August 2022

Turgay Coşkun

10

Turgay

Coşkun

1 reference

7 August 2022

Johannes Zschocke

11

Johannes

Zschocke

1 reference

7 August 2022

Jörn Oliver Sass

12

Jörn Oliver

Sass

1 reference

7 August 2022

Bwee Tien Poll-The

13

Bwee Tien

Poll-The

1 reference

Orphanet Journal of Rare Diseases

7 August 2022

language of work or name

English

0 references

publication date

2013

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published in

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volume

8

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issue

1

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page(s)

57

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cites work

Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

The prognosis of hyperlysinemia: an interim report

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

A complex between contactin-1 and the protein tyrosine phosphatase PTPRZ controls the development of oligodendrocyte precursor cells

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Cloning of glutaryl-CoA dehydrogenase cDNA, and expression of wild type and mutant enzymes in Escherichia coli

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Mutations in antiquitin in individuals with pyridoxine-dependent seizures

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

A critical role for the protein tyrosine phosphatase receptor type Z in functional recovery from demyelinating lesions

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Receptor-type tyrosine phosphatase ligands: looking for the needle in the haystack

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Biomarkers identified in inborn errors for lysine, arginine, and ornithine

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Dietary treatment of hyperlysinaemia

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Familial hyperlysinaemia due to L-lysineα-ketoglutarate reductase deficiency: Results of attempted treatment

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Neurochemical Evidence that Lysine Inhibits Synaptic Na ,K -ATPase Activity and Provokes Oxidative Damage in Striatum of Young Rats In vivo

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

A novel role for receptor like protein tyrosine phosphatase zeta in modulation of sensorimotor responses to noxious stimuli: evidences from knockout mice studies.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Inhibition of creatine kinase activity by lysine in rat cerebral cortex

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Lysine induces lipid and protein damage and decreases reduced glutathione concentrations in brain of young rats.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Plasma lysine concentration and availability of 2-ketoglutarate in liver mitochondria

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3626681

Excretion of Pipecolic Acid by Infants and by Patients with Hyperlysinemia

29 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23570448

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

The atypical 16p11.2 deletion: A not so atypical microdeletion syndrome?

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23570448

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-8-57

1 reference

release_oglesruk4zd2zc7o344bue4mpq

0 references

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/oglesruk4zd2zc7o344bue4mpq

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference

1 reference

PubMed publication ID

23570448

1 reference