(Q38208766)

31 August 2017

Defects of thiamine transport and metabolism (English)

1 reference

31 August 2017

Garry Brown

1

1 reference

PubMed ID

24789339

31 August 2017

language of work or name

1 reference

1 May 2014

1 reference

Journal of Inherited Metabolic Disease

31 August 2017

1 reference

31 August 2017

37

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31 August 2017

4

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31 August 2017

577-585

1 reference

https://scigraph.springernature.com/pub.10.1007/s10545-014-9712-9

31 August 2017

0 references

cites work

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

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

A cognitively normal PDH-deficient 18-year-old man carrying the R263G mutation in the PDHA1 gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Thiamine-responsive myelodysplasia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Thiamine-responsive megaloblastic anemia syndrome: long term follow-up.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Defective RNA ribose synthesis in fibroblasts from patients with thiamine-responsive megaloblastic anemia (TRMA).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Polarized expression of members of the solute carrier SLC19A gene family of water-soluble multivitamin transporters: implications for physiological function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

The role of 2-hydroxyacyl-CoA lyase, a thiamin pyrophosphate-dependent enzyme, in the peroxisomal metabolism of 3-methyl-branched fatty acids and 2-hydroxy straight-chain fatty acids

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Structural and biochemical basis for novel mutations in homozygous Israeli maple syrup urine disease patients: a proposed mechanism for the thiamin-responsive phenotype.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Biotin--a regulator of gene expression

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Outcome of thiamine treatment in a child with Leigh disease due to thiamine-responsive pyruvate dehydrogenase deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

The human mitochondrial deoxynucleotide carrier and its role in the toxicity of nucleoside antivirals

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

SLC19: the folate/thiamine transporter family

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

The evidence that the DNC (SLC25A19) is not the mitochondrial deoxyribonucleotide carrier

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

A Korean female patient with thiamine-responsive pyruvate dehydrogenase complex deficiency due to a novel point mutation (Y161C)in the PDHA1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Cardiac manifestations in thiamine-responsive megaloblastic anemia syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1 alpha deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

A high-affinity and specific carrier-mediated mechanism for uptake of thiamine pyrophosphate by human colonic epithelial cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Thiamine-responsive pyruvate dehydrogenase deficiency in two patients caused by a point mutation (F205L and L216F) within the thiamine pyrophosphate binding region

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Diagnosis and molecular analysis of three male patients with thiamine-responsive pyruvate dehydrogenase complex deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Thiamine-responsive megaloblastic anemia syndrome: a disorder of high-affinity thiamine transport.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Biotin-responsive basal ganglia disease: a novel entity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Thiamine-responsive megaloblastic anaemia syndrome: long-term follow-up and mutation analysis of seven families

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Thiamine intestinal transport and related issues: recent aspects

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Regulation of gene expression by biotin (review).

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Mutant deoxynucleotide carrier is associated with congenital microcephaly

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

A novel mutation in the thiamine responsive megaloblastic anaemia gene SLC19A2 in a patient with deficiency of respiratory chain complex I

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Recessive SLC19A2 mutations are a cause of neonatal diabetes mellitus in thiamine-responsive megaloblastic anaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Variant maple syrup urine disease (MSUD)--the entire spectrum.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Amish microcephaly: Long-term survival and biochemical characterization.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Analysis of gene mutations in Chinese patients with maple syrup urine disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Folate and thiamine transporters mediated by facilitative carriers (SLC19A1-3 and SLC46A1) and folate receptors

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Reduced folate carrier transports thiamine monophosphate: an alternative route for thiamine delivery into mammalian cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10545-014-9712-9

Lessons from genetic disorders of branched-chain amino acid metabolism

21 January 2018

1 reference

12 December 2020

Thiamine-responsive megaloblastic anemia: early diagnosis may be effective in preventing deafness

1 reference

12 December 2020

Pyruvate dehydrogenase deficiency in a child responsive to thiamine treatment

1 reference

12 December 2020

Treatable Leigh-like encephalopathy presenting in adolescence

1 reference

12 December 2020

Biotin deficiency reduces expression of SLC19A3, a potential biotin transporter, in leukocytes from human blood

1 reference

12 December 2020

10.1007/S10545-014-9712-9

Identifiers

DOI

1 reference

PubMed ID

24789339

Dimensions Publication ID

31 August 2017

0 references

1 reference

PubMed ID

24789339