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Pediatric Neurology, ISSN 0887-8994, 09/2018, Volume 86, pp. 77 - 78
Journal Article
BIOLOGICAL & PHARMACEUTICAL BULLETIN, ISSN 0918-6158, 01/2020, Volume 43, Issue 1, pp. 175 - 178
Paclitaxel, a mitotic inhibitor with anti-cancer effects, is dissolved in Cremophor EL (CrEL). However, peripheral neuropathy is a known side effect. As one of... 
paclitaxel | Cremophor EL | VEHICLE | GLUTATHIONE | SLC52A2 | PHARMACOLOGY & PHARMACY | FUNCTIONAL-CHARACTERIZATION | IDENTIFICATION | peripheral neuropathy | riboflavin
Journal Article
Brain, ISSN 0006-8950, 2014, Volume 137, Issue 1, pp. 44 - 56
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in... 
Brown-Vialetto-Van Laere syndrome | RFVT2 | riboflavin therapy | childhood neuronopathy | SLC52A2 | VIALETTO-VAN-LAERE | PONTOBULBAR PALSY | VANLAERE SYNDROME | AUTOSOMAL RECESSIVE INHERITANCE | FAZIO-LONDE-DISEASE | PROGRESSIVE BULBAR PARALYSIS | NEUROSCIENCES | CLINICAL NEUROLOGY | FAMILY | OVERLAP | DEAFNESS | BRAIN | Ataxia | Original
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
Brain, ISSN 0006-8950, 11/2017, Volume 140, Issue 11, pp. 2820 - 2837
Journal Article
International Journal of Pediatric Otorhinolaryngology, ISSN 0165-5876, 01/2018, Volume 104, pp. 195 - 199
Autosomal recessive cerebellar ataxias (ARCAs) are a large group of neurodegenerative disorders that manifest mainly in children and young adults. Most ARCAs... 
SLC52A2 gene | Cerebellar ataxias | Iran | SCABD2 | Novel mutation | RIBOFLAVIN | SPINOCEREBELLAR ATAXIA | HEREDITARY ATAXIAS | OTORHINOLARYNGOLOGY | PEDIATRICS | DEAFNESS | VAN LAERE SYNDROME | Deafness | Nervous system diseases | Analysis | Blindness | Genetic research | Development and progression | Genetic aspects
Journal Article
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
Brain : a journal of neurology, 01/2014, Volume 137, Issue Pt 1, p. 44
Journal Article
01/2015, Second Edition, ISBN 0124170447
Book Chapter
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