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ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 10/2019, Volume 14, Issue 1, pp. 226 - 11
Journal Article
Diabetologia, ISSN 0012-186X, 11/2017, Volume 60, Issue 11, pp. 2252 - 2255
Journal Article
Journal Article
Developmental period medicine, ISSN 1428-345X, 2018, Volume 22, Issue 3, pp. 221 - 224
Journal Article
Journal of inherited metabolic disease, ISSN 0141-8955, 07/2019, Volume 42, Issue 4, pp. 598 - 607
Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown‐Vialetto‐Van Laere and Fazio‐Londe syndromes since the... 
RTD | RFVT | SLC52A2 | riboflavin | SLC52A3 | MEDICINE, RESEARCH & EXPERIMENTAL | VIALETTO-VAN LAERE | HETEROZYGOUS MUTATION | SIBLINGS | FUNCTIONAL-CHARACTERIZATION | IDENTIFICATION | NEURONOPATHY | DISEASES | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | DEAFNESS | PATIENT | DYSFUNCTION | Deafness | Neurodegeneration | Vitamin B | Riboflavin | Ataxia | Neuropathy | Supplementation | Diagnosis | Mutation | Patients | Genetic screening
Journal Article
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2018, Volume 13, Issue 1, pp. 146 - 7
Background: Clinical outcome of patients with a classical presentation of galactosemia (classical patients) varies substantially, even between patients with... 
Fibroblasts | UDP-galactose | Classical galactosemia | Galactose-1-phosphate | Galactose metabolites | Galactose oxidation | MEDICINE, RESEARCH & EXPERIMENTAL | GENE | GENETICS & HEREDITY | CHILDREN | Enzymes | Fetuses | Cognitive ability | Medical screening | Clinical outcomes | Galactosemia | Metabolites | Diet | Cell lines | Uridine | Mutation | Galactose | Metabolic disorders | Genotypes
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 09/2018, Volume 13, Issue 1, pp. 164 - 13
Journal Article