(Q30832915)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

title

Thiamine transporter-2 deficiency: outcome and treatment monitoring (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Darío Ortigoza-Escobar

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Alfonso Oyarzabal

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Jordi Muchart

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Rafael Artuch

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

BELEN PEREZ DUEÑAS

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

author name string

Marta Molero

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Mónica Rebollo

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

Pilar Rodríguez-Pombo

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

publication date

23 June 2014

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

Orphanet Journal of Rare Diseases

21 March 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

volume

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

page(s)

92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

Two novel mutations in the BCKDK (branched-chain keto-acid dehydrogenase kinase) gene are responsible for a neurobehavioral deficit in two pediatric unrelated patients

21 March 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Treatable Leigh-like encephalopathy presenting in adolescence

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Practice patterns of mitochondrial disease physicians in North America. Part 2: treatment, care and management

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Progressive striatal necrosis associated with anti-NMDA receptor antibodies

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

The emerging paradigm of network medicine in the study of human disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Intermittent-relapsing pyruvate dehydrogenase complex deficiency: a case with clinical, biochemical, and neuroradiological reversibility.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3 mutations

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Acute necrotizing encephalopathy in 3 brothers

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Modelling genotype-phenotype relationships and human disease with genetic interaction networks

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Reversible lactic acidosis in a newborn with thiamine transporter-2 deficiency.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Exome sequencing reveals a novel Moroccan founder mutation in SLC19A3 as a new cause of early-childhood fatal Leigh syndrome

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

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

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Determination of thiamin diphosphate in whole blood samples by high-performance liquid chromatography--a method suitable for pediatric diagnostics.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Mutations in a thiamine-transporter gene and Wernicke's-like encephalopathy.

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Biotin-responsive basal ganglia disease: a novel entity

25 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4099387

Plasma amino acids in anorexia nervosa

25 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24957181

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24957181

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/24957181

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1186/1750-1172-9-92

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

Dimensions Publication ID

21 March 2020

0 references

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json

21 March 2020

PubMed publication ID

24957181

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:24957181%20AND%20SRC:MED&resulttype=core&format=json