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American Journal of Medical Genetics Part A, ISSN 1552-4825, 02/2018, Volume 176, Issue 2, pp. 399 - 403
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 | SIBLINGS | FUNCTIONAL-CHARACTERIZATION | IDENTIFICATION | NEURONOPATHY | DISEASES | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | DEAFNESS | PATIENT | MUTATIONS | DYSFUNCTION | Deafness | Neurodegeneration | Vitamin B | Riboflavin | Ataxia | Neuropathy | Supplementation | Diagnosis | Mutation | Patients | Genetic screening
Journal Article
Journal of the Peripheral Nervous System, ISSN 1085-9489, 03/2018, Volume 23, Issue 1, pp. 29 - 35
Hand function is a problem in patients with Charcot‐Marie‐Tooth disease type 1A (CMT1A) and Riboflavin Transporter Deficiency type 2 (RTD2). However, a... 
riboflavin transporter deficiency type 2upper limb | Charcot‐Marie‐Tooth disease | strength | EMG | paediatric | Charcot-Marie-Tooth disease | OUTCOME MEASURES | MUTATIONS | NEUROSCIENCES | CLINICAL NEUROLOGY | Activities of daily living | Children | Riboflavin | Fatigue | Muscle function | Hand | Muscle contraction
Journal Article
Cerebellum & ataxias, ISSN 2053-8871, 2018, Volume 5, Issue 1, pp. 12 - 3
Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome) is a rare recessive neurodegenerative disorder that can present with gait ataxia,... 
Case studies | Vitamin B2 | Dosage and administration | Genetic aspects | Children | Diagnosis | Drug therapy | Diseases | Atrophy | Gait | Laboratories | Vitamin B | Genes | Ataxia | Mutation | Hearing impairment | Metabolism | Patients | Drug dosages | Age | Riboflavin | Spinocerebellar Ataxia | Neurogenetics | Cerebellar Ataxia | SLC52A2
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 08/2016, Volume 58, Issue 8, pp. 848 - 854
Journal Article
Child Neurology Open, ISSN 2329-048X, 8/2017, Volume 4, p. 2329048X17725610
Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2005, Volume 86, Issue 4, pp. 441 - 447
Multiple acyl-CoA dehydrogenase deficiency (MADD) or glutaric aciduria type II (GAII) is most often caused by mutations in the genes encoding the α- or... 
Vitamin B2 | Multiple acyl-CoA dehydrogenase deficiency | Riboflavin | FAD | MFT | Flavoprotein | Mitochondrial FAD transport | Folate | Glutaric aciduria type II | FLX1 | OXIDATION | MEDICINE, RESEARCH & EXPERIMENTAL | RAT | BIOCHEMISTRY & MOLECULAR BIOLOGY | mitochondrial FAD transport | PHENOTYPE | STRUCTURAL GENE | SACCHAROMYCES-CEREVISIAE | CARRIER | multiple acyl-CoA dehydrogenase deficiency | folate | vitamin B2 | METABOLISM | ELECTRON-TRANSFER FLAVOPROTEIN | COMPLEMENTATION | flavoprotein | GENETICS & HEREDITY | glutaric aciduria type II | riboflavin | DNA, Fungal - genetics | Species Specificity | Saccharomyces cerevisiae - genetics | Humans | DNA, Complementary - genetics | Molecular Sequence Data | Genetic Complementation Test | Electron Transport Complex IV - metabolism | Saccharomyces cerevisiae - metabolism | Flavin-Adenine Dinucleotide - metabolism | Membrane Transport Proteins - genetics | Base Sequence | Cloning, Molecular | Membrane Transport Proteins - metabolism | Acyl-CoA Dehydrogenase - genetics | Amino Acid Sequence | Saccharomyces cerevisiae Proteins - genetics | Nucleotide Transport Proteins - metabolism | Sequence Homology, Amino Acid | Acyl-CoA Dehydrogenase - deficiency | Saccharomyces cerevisiae Proteins - metabolism | Nucleotide Transport Proteins - genetics | Succinate Dehydrogenase - metabolism | Mutation | In Vitro Techniques | Physiological aspects | Coenzymes | Exchange-traded funds | Implants, Artificial | Prosthesis | Folic acid
Journal Article
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 12/2017, Volume 122, Issue 4, pp. 182 - 188
Journal Article
8/2019, Volume 12, 24
This review is an overview of systemic conditions that can be associated with peripheral nervous system dysfunction. Children may present with neuropathic... 
FAMILIAL VISCERAL NEUROPATHY | GUILLAIN-BARRE-SYNDROME | LUPUS-ERYTHEMATOSUS | systemic disease | CARPAL-TUNNEL-SYNDROME | RIBOFLAVIN TRANSPORTER DEFICIENCY | peripheral neuropathy | CLINICAL NEUROLOGY | CELIAC-DISEASE | VITAMIN-E-DEFICIENCY | children | MULTIPLE ENDOCRINE NEOPLASIA | THIAMINE-DEFICIENCY | MONONEURITIS MULTIPLEX
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