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SEMINARS IN PEDIATRIC NEUROLOGY, ISSN 1071-9091, 07/2018, Volume 26, pp. 2 - 9
Brown-Vialetto-van Laere syndrome is characterized by a progressive sensorimotor neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory... 
MIGRAINE PROPHYLAXIS | NEURONOPATHY | TRANSPORTER | PONTOBULBAR PALSY | HIGH-DOSE RIBOFLAVIN | PEDIATRICS | DEAFNESS | MUTATIONS | CHILDHOOD | BRAIN | CLINICAL NEUROLOGY | FAZIO-LONDE DISEASE
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
Pediatric Neurology Briefs, ISSN 1043-3155, 03/2014, Volume 28, Issue 3, pp. 23 - 23
Investigators at Great Ormond Street Hospital, London, UK, and multiple centers internationally report the response to high-dose oral riboflavin therapy in 18... 
Fazio-Londe Disease | Riboflavin Transporter
Journal Article
AMERICAN JOURNAL OF PHYSIOLOGY-GASTROINTESTINAL AND LIVER PHYSIOLOGY, ISSN 0193-1857, 04/2013, Volume 304, Issue 8, pp. G741 - G748
Subramanian VS, Ghosal A, Subramanya SB, Lytle C, Said HM. Differentiation-dependent regulation of intestinal vitamin B2 uptake: studies utilizing... 
cell differentiation | PHYSIOLOGY | L-GLUTAMATE | RFVT-1 | VAN-LAERE-SYNDROME | RFVT-3 | FUNCTIONAL-CHARACTERIZATION | FAZIO-LONDE-DISEASE | THIAMIN UPTAKE | RIBOFLAVIN TRANSPORTER-2 | CRYPT-VILLUS AXIS | MESSENGER-RNA | intestinal transport | GASTROENTEROLOGY & HEPATOLOGY | UP-REGULATION | riboflavin | MOLECULAR-MECHANISMS
Journal Article
Annals of Indian Academy of Neurology, ISSN 0972-2327, 01/2015, Volume 18, Issue 1, pp. 87 - 89
Fazio Londe Syndrome is a rare neurological disorder presenting with progressive bulbar palsy with respiratory failure. Initially considered to have an... 
Fazio Londe disease | hereditary motor neuronopathy | spinal muscular atrophy | VIALETTO-VAN LAERE | CLINICAL NEUROLOGY | Case studies | Rare diseases | Nervous system diseases | Pseudobulbar palsy | Pediatric neurology | Ostomy | Illnesses | Disease | Medical treatment | Vitamin B | Mutation | Paralysis | Hearing impairment | Children & youth | Case Report
Journal Article
ARQUIVOS DE NEURO-PSIQUIATRIA, ISSN 0004-282X, 03/2007, Volume 65, Issue 1, pp. 32 - 35
We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and... 
BULBAR PALSY | PARALYSIS | Brown-Vialetto-van Laere syndrome | PSYCHIATRY | hearing impairment | MOTOR-NEURON DISEASE | MUSCULAR-ATROPHY | FAZIO-LONDE-DISEASE | NEUROSCIENCES | VANLAERE-SYNDROME | DEAFNESS | autosomal recessive inheritance | ONSET
Journal Article
Journal Article
ARQUIVOS DE NEURO-PSIQUIATRIA, ISSN 0004-282X, 09/2002, Volume 60, Issue 3B, pp. 830 - 834
Progressive bulbar palsy also called Fazio -Londe disease, is characterized by progressive impairment of cranial nerves in children. It was first reported by... 
cranial nerves | childhood | progressive bulbar palsy | PSYCHIATRY | brainstem | Fazio-Londe disease | NEUROSCIENCES
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 09/2002, Volume 60, Issue 3B, pp. 830 - 834
A paralisia bulbar progressiva, também denominada doença de Fazio-Londe, caracteriza-se pelo acometimento degenerativo progressivo de nervos cranianos bulbares... 
nervos cranianos | cranial nerves | childhood | infância | progressive bulbar palsy | paralisia bulbar progressiva | brainstem | doença de Fazio-Londe | Fazio-Londe disease | tronco cerebral
Journal Article
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