(Q42747892)

6 November 2017

0 references

Biotin-responsive Basal Ganglia disease: a treatable differential diagnosis of leigh syndrome (English)

1 reference

biotin-responsive basal ganglia disease

6 November 2017

0 references

author

Katrin Amunts

4

1 reference

6 November 2017

Felix Distelmaier

1

1 reference

6 November 2017

Peter Huppke

2

1 reference

6 November 2017

Peter Pieperhoff

3

1 reference

6 November 2017

Jörg Schaper

5

1 reference

6 November 2017

Eva Morava

6

1 reference

6 November 2017

Ertan Mayatepek

7

1 reference

6 November 2017

Jürgen Kohlhase

8

1 reference

6 November 2017

Michael Karenfort

9

1 reference

6 November 2017

29 October 2013

1 reference

Journal of Inherited Metabolic Disorders Reports

6 November 2017

1 reference

6 November 2017

13

1 reference

6 November 2017

53-57

1 reference

Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases

6 November 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110325

Biotin-responsive basal ganglia disease revisited: clinical, radiologic, and genetic findings.

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110325

Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110325

Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110325

Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations

27 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110325

Detection of structural changes of the human brain in longitudinally acquired MR images by deformation field morphometry: methodological analysis, validation and application.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110325

The human inferior parietal lobule in stereotaxic space.

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110325

Biotin-responsive basal ganglia disease: a novel entity

16 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4110325

16 August 2018

Identifiers

DOI

10.1007/8904_2013_271

1 reference

6 November 2017

1 reference

6 November 2017

1 reference