Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Fazio–Londe disease"'
Autor:
Marzieh Khani, Hosein Shamshiri, Shahriar Nafissi, Najmeh Salehi, Hamidreza Moazzeni, Hanieh Taheri, Elahe Elahi
Publikováno v:
Clinical Case Reports, Vol 12, Iss 1, Pp n/a-n/a (2024)
Key Clinical Message Fazio‐Londe disease and Brown‐Vialetto‐Van Laere syndrome are rare related neurological disorders. Although SLC52A3 and SLC52A2 that encode riboflavin transporters are their only known causative genes, many patients without
Externí odkaz:
https://doaj.org/article/2726eafbefe64b43acbff02336e65555
Publikováno v:
Annals of Indian Academy of Neurology, Vol 18, Iss 1, Pp 87-89 (2015)
Fazio Londe Syndrome is a rare neurological disorder presenting with progressive bulbar palsy with respiratory failure. Initially considered to have an unrelenting course, is now found to be due to mutations in the SLC52A3 gene which encodes the inte
Externí odkaz:
https://doaj.org/article/cd1c4940ada1408fbdce942264fd0e38
Autor:
Bianca Helena Brum Batista, Andrea Garcia de Almeida, Magda Lahorgue Nunes, Paulo Márcio Condessa Pitrez, João Arthur Ehlers
Publikováno v:
Arquivos de Neuro-Psiquiatria, Vol 60, Iss 3B, Pp 830-834 (2002)
A paralisia bulbar progressiva, também denominada doença de Fazio-Londe, caracteriza-se pelo acometimento degenerativo progressivo de nervos cranianos bulbares em crianças. Foi descrita primeiramente por Fazio em 1892 e até a presente data soment
Externí odkaz:
https://doaj.org/article/00f2723fc7d44e0da0e68aa3611508a7
Autor:
Balasubramaniem Ashokkumar, Naveen Benakappa, Henry Houlden, Vykuntaraju K Gowda, Tamilarasan Udhayabanu, Benjamin J. O'Callaghan, Stephanie Efthymiou, Perumal Varalakshmi, Santhalingam Gayathri
Publikováno v:
European journal of neurologyREFERENCES. 28(3)
Background Brown-Vialetto-Van Laere syndrome (BVVLS) and Fazio-Londe disease (FLD) are rare neurological disorders presenting with pontobulbar palsy, muscle weakness and respiratory insufficiency. Mutations in SLC52A2 (hRFVT-2) or SLC52A3 (hRFVT-3) g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c038e5416d386e96fc468573f932ccf3
https://pubmed.ncbi.nlm.nih.gov/33325104
https://pubmed.ncbi.nlm.nih.gov/33325104
Autor:
Perumal Varalakshmi, Balasubramaniem Ashokkumar, Tamilarasan Udhayabanu, Vykuntaraju K Gowda, Varunvenkat M Srinivasan
Publikováno v:
Brain and Development. 40:582-586
Background Fazio-Londe syndrome also called progressive bulbar palsy of childhood is a very rare motor neuron disease of pediatric age group characterized by progressive paralysis of lower cranial nerves. Objective To describe Fazio-Londe syndrome in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c8e6fe0f6b39725e695f0a4f82ee4f5
https://doi.org/10.1016/j.braindev.2018.02.010
https://doi.org/10.1016/j.braindev.2018.02.010
Autor:
Susan M. White, Dean Phelan, Ian R. Woodcock, Manoj P. Menezes, Heidi Peters, Lee Coleman, Joy Yaplito-Lee, Eppie M. Yiu, Rachel Stapleton, Monique M. Ryan, Sebastian Lunke, Belinda Chong, Zornitza Stark, James Pitt, Colin F. Robertson
Publikováno v:
Seminars in Pediatric Neurology. 26:2-9
Brown-Vialetto-van Laere syndrome is characterized by a progressive sensorimotor neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory insufficiency. Mutations in SLC52A2 and SLC52A3, encoding riboflavin transporters RFVT2 and
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::39dcab74a883eba856e33b79c44a8191
https://doi.org/10.1016/j.spen.2017.03.001
https://doi.org/10.1016/j.spen.2017.03.001
Publikováno v:
Journal of Child Neurology. 32:528-532
We present 3 patients identified at 2 different institutions with Brown-Vialetto-Van Laere syndrome. Each patient was initially diagnosed with a neuroimmune disorder for a period of a few weeks to a few months. In each case, genetic analysis revealed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5efb4cb10596c0d3eee906e7014baab3
https://doi.org/10.1177/0883073816689517
https://doi.org/10.1177/0883073816689517
Publikováno v:
Journal of Pediatric Neurosciences
Brown-Vialetto-Van Laere (BVVL) syndrome is a rare motor neuron disorder of childhood, which forms a continuous spectrum with Fazio-Londe syndrome. It is an autosomal-recessive inherited disease caused by mutations in intestinal riboflavin transporte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::421320aea1191228fed932723340e8ed
http://europepmc.org/articles/PMC6413615
http://europepmc.org/articles/PMC6413615
Autor:
Mahdieh Soveizi, Shahpour Geravandpoor, Bahareh Rabbani, Mohammad Reza Navaeifar, Nejat Mahdieh, Ali Abbaskhanian, Mohammad Kazem Bakhshandeh
Publikováno v:
Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 72
Brown-Vialetto-Van Laere syndrome, a rare neurological disorder is due to SLC52A3 mutations. Here, the SLC52A3 protein and its mutations are in silico structurally and functionally analyzed among all the reported patients and a novel mutation is also
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f85e8825c79ad13cc74ab20136fca869
https://pubmed.ncbi.nlm.nih.gov/35963752
https://pubmed.ncbi.nlm.nih.gov/35963752
Autor:
J Gordon Millichap, John J Millichap
Publikováno v:
Pediatric Neurology Briefs, Vol 28, Iss 3, Pp 23-23 (2014)
Investigators at Great Ormond Street Hospital, London, UK, and multiple centers internationally report the response to high-dose oral riboflavin therapy in 18 patients from 13 families with mutations in SLC5ZA2, encoding riboflavin transporter RTVT2,
Externí odkaz:
https://doaj.org/article/59695583b05843b599643e6358916913