Defects of thiamine transport and metabolism

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

(2013) Sietske H. Kevelam et al.   BRAIN

Exome sequencing reveals a novel Moroccan founder mutation inSLC19A3as a new cause of early-childhood fatal Leigh syndrome

(2013) Mike Gerards et al.   BRAIN

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

(2013) Rongbao Zhao et al.   MOLECULAR ASPECTS OF MEDICINE

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

(2013) Majid Alfadhel et al.   Orphanet Journal of Rare Diseases

Reversible Lactic Acidosis in a Newborn With Thiamine Transporter-2 Deficiency

(2013) B. Perez-Duenas et al.   PEDIATRICS

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

(2012) Svetlana M. Nabokina et al.   AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY

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

(2012) Nan Yang et al.   MOLECULAR GENETICS AND METABOLISM

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

(2012) B. Tabarki et al.   NEUROLOGY

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

(2012) Charles Shaw-Smith et al.   PEDIATRIC DIABETES

Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway

(2011) Johannes A. Mayr et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A wide spectrum of clinical and brain MRI findings in patients with SLC19A3mutations

(2011) Kenichiro Yamada et al.   BMC Medical Genetics

Amish microcephaly: Long-term survival and biochemical characterization

(2010) Victoria Mok Siu et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Biotin-Responsive Basal Ganglia Disease in Ethnic Europeans With Novel SLC19A3 Mutations

(2010) Rabab Debs et al.   ARCHIVES OF NEUROLOGY

SLC25A19mutation as a cause of neuropathy and bilateral striatal necrosis

(2009) Ronen Spiegel et al.   ANNALS OF NEUROLOGY

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

(2009) R. Bachmann-Gagescu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Thiamine-Responsive Megaloblastic Anemia Syndrome: Long Term Follow-Up

(2009) Caterina Borgna-Pignatti et al.   JOURNAL OF PEDIATRICS

Mutations in a Thiamine-Transporter Gene and Wernicke's-like Encephalopathy

(2009) Satoshi Kono et al.   NEW ENGLAND JOURNAL OF MEDICINE

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

(2008) F Sedel et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

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

(2008) Jonghoon Kang et al.   MITOCHONDRION