(Q39298440)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19766516%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

title

Cerebral folate deficiency and CNS inflammatory markers in Alpers disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19766516%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

0 references

1 reference

1 reference

1 reference

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19766516%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

author name string

Oswald Hasselmann

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19766516%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Vincent T Ramaekers

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19766516%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Edward V Quadros

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19766516%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

J M Sequeira

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19766516%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

Markus Weissert

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19766516%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

publication date

1 January 2010

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19766516%20AND%20SRC:MED&resulttype=core&format=json

Molecular Genetics and Metabolism

7 February 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19766516%20AND%20SRC:MED&resulttype=core&format=json

7 February 2020

volume

99

1 reference

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7 February 2020

issue

1

1 reference

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7 February 2020

page(s)

58-61

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19766516%20AND%20SRC:MED&resulttype=core&format=json

Alpers syndrome: progressive neuronal degeneration of children with liver disease

7 February 2020

cites work

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Molecular diagnosis of Alpers syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Replication of animal mitochondrial DNA.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Progressive neuronal degeneration of childhood with liver disease (Alpers' disease) presenting in young adults

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Reduced folate transport to the CNS in female Rett patients

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Neopterin production, tryptophan degradation, and mental depression--what is the link?

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005

Worsening in seizure frequency and severity in relation to folic acid administration

7 January 2021

1 reference

https://api.crossref.org/works/10.1016%2FJ.YMGME.2009.08.005