Associated Papers
Identification and functional analysis of novel SLC25A19 variants causing thiamine metabolism dysfunction syndrome 4.
Chen Y et al.
Orphanet Journal of Rare Diseases, 2021
SLC25A19 deficiency and bilateral striatal necrosis with polyneuropathy: a new case and review of the literature.
Porta F et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
A Novel Variation in the Mitochondrial Complex I Assembly Factor NDUFAF5 Causes Isolated Bilateral Striatal Necrosis in Childhood.
Bi H et al.
Frontiers in Neurology, 2021
Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.
Palmieri F et al.
Biomolecules, 2020
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4.
Bottega R et al.
Journal of Human Genetics, 2019
Bilateral Striatal Necrosis with Polyneuropathy with a Novel SLC25A19 (Mitochondrial Thiamine Pyrophosphate Carrier OMIMI*606521) Mutation: Treatable Thiamine Metabolic Disorder-A Report of Two Indian Cases.
Gowda VK et al.
Neuropediatrics, 2019
Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
Marcé-Grau A et al.
Journal of Inherited Metabolic Disease, 2019
Thiamine deficiency in childhood with attention to genetic causes: Survival and outcome predictors.
Ortigoza-Escobar JD et al.
Annals of Neurology, 2017
A new Caucasian case of neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): a clinical, molecular, and functional study.
Fiermonte G et al.
Molecular Genetics and Metabolism, 2011
SLC25A19 mutation as a cause of neuropathy and bilateral striatal necrosis.
Spiegel R et al.
Annals of Neurology, 2009
The mitochondrial transporter family SLC25: identification, properties and physiopathology.
Palmieri F
Molecular Aspects of Medicine, 0
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