Free-thiamine is a potential biomarker of thiamine transporter-2 deficiency: a treatable cause of Leigh syndrome

Involvement of Organic Cation Transporters in the Clearance and Milk Secretion of Thiamine in Mice

(2015) Koji Kato et al.   PHARMACEUTICAL RESEARCH

Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

(2014) Tobias B. Haack et al.   BRAIN

Expanding the clinical and molecular spectrum of thiamine pyrophosphokinase deficiency: A treatable neurological disorder caused by TPK1 mutations

(2014) Siddharth Banka et al.   MOLECULAR GENETICS AND METABOLISM

Guidelines for uniform reporting of body fluid biomarker studies in neurologic disorders

(2014) S. Gnanapavan et al.   NEUROLOGY

Thiamine transporter-2 deficiency: outcome and treatment monitoring

(2014) Juan Ortigoza-Escobar et al.   Orphanet Journal of Rare Diseases

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

Stress-Induced Upregulation of SLC19A3 is Impaired in Biotin-Thiamine-Responsive Basal Ganglia Disease

(2013) Anne Schänzer et al.   BRAIN PATHOLOGY

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

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency

(2012) Mercedes Serrano et al.   MOVEMENT DISORDERS

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

(2012) B. Tabarki et al.   NEUROLOGY

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

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

Cerebral Folate Deficiency Syndromes in Childhood

(2011) Belén Pérez-Dueñas et al.   ARCHIVES OF NEUROLOGY

Thiamine Status in Humans and Content of Phosphorylated Thiamine Derivatives in Biopsies and Cultured Cells

(2010) Marjorie Gangolf et al.   PLoS One

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

(2009) Robert Walter Körner et al.   JOURNAL OF CHROMATOGRAPHY B-ANALYTICAL TECHNOLOGIES IN THE BIOMEDICAL AND LIFE SCIENCES

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

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