Results 51 to 60 of about 7,746,465 (115)

A Case of Brown-Vialetto-Van Laere Syndrome Due To a Novel Mutation in SLC52A3 Gene

, 2017
Brown-Vialetto-Van Laere syndrome is a rare disorder characterized by motor, sensory, and cranial neuronopathies, associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively.
Beth A. Pletcher, Aravindhan Veerapandiyan, Venkatraman Thulasi, Xue Ming, Chun M. Tong   +4 more
core   +1 more source

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome [PDF]

, 2012
Brown-Vialetto-Van Laere syndrome (BVVLS [MIM 211530]) is a rare neurological disorder characterized by infancy onset sensorineural deafness and ponto-bulbar palsy.
Christine Makowski, Ulrike Tauer, Mayr, J.A., Hiroki Yoshimatsu, Atsushi Yonezawa, Maja Hempel, Makowski, C., Tauer, U., Yoshiaki Yao, Yoshimatsu, H., Peter Freisinger, Freisinger, P., Graf, E., Elisabeth Graf, Yonezawa, A., Tim M. Strom, Tobias B. Haack, Thomas Meitinger, Meitinger, T., Haack, T.B., Thomas Wieland, Ken Inui, Yao, Y., Strom, T.M., Johannes A. Mayr, Wieland, T., Prokisch, H., Inui, K., Uwe Ahting, Ahting, U., Hempel, M., Holger Prokisch, Haack, TB;Makowski, C;Yao, Y;Graf, E;Hempel, M;Wieland, T;Tauer, U;Ahting, U;Mayr, JA;Freisinger, P;Yoshimatsu, H;Inui, K;Strom, TM;Meitinger, T;Yonezawa, A;Prokisch, H   +32 more
core   +2 more sources

Four novel C20orf54 mutations identified in Brown–Vialetto–Van Laere syndrome patients [PDF]

Journal of Human Genetics, 2012
Brown-Vialetto-Van Laere syndrome (BVVLS) is a very rare neurodegenerative disorder characterized by pontobulbar palsy and sensorineural hearing loss. Its mode of inheritance in affected families has usually been autosomal recessive, although autosomal dominant inheritance and incomplete penetrance have also been reported.
Mitra Ansari, Dezfouli, Samira, Yadegari, Shahriar, Nafissi, Elahe, Elahi   +3 more
openaire   +2 more sources

A case report of riboflavin transporter deficiency: A novel heterozygous pathogenic variant in the SLC52A3 gene

Molecular Genetics and Metabolism Reports
Riboflavin transporter deficiency (RTD) is a neurodegenerative disorder that presents from infancy to adulthood with a progressive axonal neuropathy characterized by a variety of neurologic symptoms including hearing loss, weakness, bulbar palsy, and ...
Elizabeth S. Tranel, Bridget McGowan, Andy Drackley, Leon G. Epstein, Vamshi K. Rao, Nancy L. Kuntz, Abigail N. Schwaede   +6 more
doaj   +1 more source

Case Report: SLC52A2 variants cause Brown-Vialetto-Van Laere syndrome type 2, characterized by pure red cell aplastic anemia: clinical and genetic features of three Chinese children

Frontiers in Pediatrics
ObjectiveTo report three Chinese pediatric cases of Brown-Vialetto-Van Laere syndrome type 2 (BVVLS2) presenting with pure red cell aplasia (PRCA) as the core manifestation, and to analyze their clinical features, molecular basis, and response to ...
Zhenzhen Chen, Landi Lai, Xiaomei Lu, Xiaomei Lu, Xiaomei Lu, Bomao Zhong, Bomao Zhong, Bomao Zhong, Qi Peng, Qi Peng, Qi Peng, Ziqiang Liu   +11 more
doaj   +1 more source

Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54

, 2010
Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness.
Crow, Yanick J., Sheridan, Eamonn, Josifova, Dragana, Josifova, Dragana J., Green, Peter, Lin, Jean-Pierre, Houlden, Henry, Lin, Jean Pierre, Childs, Anne Marie, Riphagen, Shelley, Childs, Anne-Marie, Raymond, F. Lucy, Wiseman, Matthew, Edwards, Sian   +13 more
core   +1 more source

Auditory Neuropathy Spectrum Disorder in Brown- Vialetto-Van Laere Syndrome

Auditory and Vestibular Research, 2022
Background and Aim: This study shows the clinical symptoms pertinent to auditory neuropathy spectrum disorder (ANSD) for a 16-year-old girl with Brown-Vialetto-Van Laere Syndrome (BVVL). The results have been followed for six years between 2015 and 2021.
openaire   +1 more source

Fazio-Londe Syndrome and Patient-centered Nursing Care: A Case Report

Journal of Client-centered Nursing Care, 2020
Introduction: Fazio-Londe disease is a genetic rare disorder manifesting by acute respiratory distress. This article is a case report of Fazio-Londe syndrome, its comparison with other case reports in the literature, and its patient-centered nursing care.
Mohammad Abdi, Maryam Jolfaei, Maryam Ghasemi, Mohammad Reza Dinmohammadi, Hojjat Torkmandi, Elmira Khademi   +5 more
doaj  

Riboflavin Transporter Deficiency as a Cause of Progressive Encephalopathy

Metabolites
Background/Objective: Riboflavin transporter deficiency (RTD) is a rare neurodegenerative disease, with under 500 cases genetically confirmed since the early 2000s.
Justyna Paprocka, Julia Karpierz, Michał Hutny, Jagoda Hofman-Hutna, Artur Dobosz   +4 more
doaj   +1 more source

A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency)

, 2021
Objective The purpose of this paper is to describe a child with auditory neuropathy spectrum disorder (ANSD) associated with Brown-Vialetto-Van Laere (BVVL) syndrome, which is a rare, inherited, neurodegenerative disorder that is caused by defects in ...
Yapici, Zuhal, AYANOĞLU AKSOY, Elif, Gedik Soyuyuce, Ozlem, Zuhal Yapici, Ozlem Gedik Soyuyuce, Elif Ayanoglu Aksoy   +5 more
core   +1 more source