(Q35603267)

9 August 2017

0 references

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

1 reference

9 August 2017

Johannes A Mayr

1

0 references

Holger Prokisch

object named as

Holger Prokisch

10

0 references

author name string

Peter Freisinger

2

1 reference

9 August 2017

Kurt Schlachter

3

1 reference

9 August 2017

Boris Rolinski

4

1 reference

9 August 2017

Franz A Zimmermann

5

1 reference

9 August 2017

Thomas Scheffner

6

1 reference

9 August 2017

Tobias B Haack

7

1 reference

9 August 2017

Johannes Koch

8

1 reference

9 August 2017

Uwe Ahting

9

1 reference

9 August 2017

Wolfgang Sperl

11

1 reference

9 August 2017

language of work or name

English

0 references

publication date

1 December 2011

1 reference

American Journal of Human Genetics

9 August 2017

1 reference

9 August 2017

89

1 reference

9 August 2017

6

1 reference

9 August 2017

806-812

1 reference

Wernicke's Encephalopathy in a Patient with Peptic Ulcer Disease

9 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Thiamine status in humans and content of phosphorylated thiamine derivatives in biopsies and cultured cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Anorexia nervosa and Wernicke-Korsakoff syndrome: a case report

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Low aerobic mitochondrial energy metabolism in poorly- or undifferentiated neuroblastoma

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Wernicke encephalopathy after bariatric surgery: a systematic review

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Structural characterization of CA1462, the Candida albicans thiamine pyrophosphokinase

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Rapid HPLC measurement of thiamine and its phosphate esters in whole blood

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Loop diuretic therapy, thiamine balance, and heart failure

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

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

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

A novel mutation in the dihydrolipoamide dehydrogenase E3 subunit gene (DLD) resulting in an atypical form of alpha-ketoglutarate dehydrogenase deficiency

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Mutant deoxynucleotide carrier is associated with congenital microcephaly

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Wernicke encephalopathy in nonalcoholic patients

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Impact of the reduced folate carrier on the accumulation of active thiamin metabolites in murine leukemia cells

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Mutations in SLC19A2 cause thiamine-responsive megaloblastic anaemia associated with diabetes mellitus and deafness

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Neuropathology of thiamine deficiency disorders.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Using CLUSTAL for multiple sequence alignments

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Wernicke's encephalopathy in prolonged fasting.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Cardiac beriberi: often a missed diagnosis.

12 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Acute flaccid paralysis as initial symptom in 4 patients with novel E1alpha mutations of the pyruvate dehydrogenase complex.

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Reduced respiratory control with ADP and changed pattern of respiratory chain enzymes as a result of selective deficiency of the mitochondrial ATP synthase

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

Biotin-responsive basal ganglia disease: a novel entity

25 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3234371

10.1016/J.AJHG.2011.11.007

25 September 2018

Identifiers

DOI

1 reference

9 August 2017

1 reference

9 August 2017

1 reference