BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

272 related articles for article (PubMed ID: 23107375)

  • 1. The Brown-Vialetto-Van Laere and Fazio Londe syndrome revisited: natural history, genetics, treatment and future perspectives.
    Bosch AM; Stroek K; Abeling NG; Waterham HR; Ijlst L; Wanders RJ
    Orphanet J Rare Dis; 2012 Oct; 7():83. PubMed ID: 23107375
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Brown-Vialetto-van Laere and Fazio-Londe overlap syndromes: a clinical, biochemical and genetic study.
    Ciccolella M; Catteruccia M; Benedetti S; Moroni I; Uziel G; Pantaleoni C; Chiapparini L; Bizzi A; D'Amico A; Fattori F; Salsano ML; Pastore A; Tozzi G; Piemonte F; Bertini E
    Neuromuscul Disord; 2012 Dec; 22(12):1075-82. PubMed ID: 22824638
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment.
    Bosch AM; Abeling NG; Ijlst L; Knoester H; van der Pol WL; Stroomer AE; Wanders RJ; Visser G; Wijburg FA; Duran M; Waterham HR
    J Inherit Metab Dis; 2011 Feb; 34(1):159-64. PubMed ID: 21110228
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Brown-Vialetto-Van Laere syndrome: a riboflavin-unresponsive patient with a novel mutation in the C20orf54 gene.
    Koy A; Pillekamp F; Hoehn T; Waterham H; Klee D; Mayatepek E; Assmann B
    Pediatr Neurol; 2012 Jun; 46(6):407-9. PubMed ID: 22633641
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Madras motor neuron disease (MMND) is distinct from the riboflavin transporter genetic defects that cause Brown-Vialetto-Van Laere syndrome.
    Nalini A; Pandraud A; Mok K; Houlden H
    J Neurol Sci; 2013 Nov; 334(1-2):119-22. PubMed ID: 24139842
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
    Foley AR; Menezes MP; Pandraud A; Gonzalez MA; Al-Odaib A; Abrams AJ; Sugano K; Yonezawa A; Manzur AY; Burns J; Hughes I; McCullagh BG; Jungbluth H; Lim MJ; Lin JP; Megarbane A; Urtizberea JA; Shah AH; Antony J; Webster R; Broomfield A; Ng J; Mathew AA; O'Byrne JJ; Forman E; Scoto M; Prasad M; O'Brien K; Olpin S; Oppenheim M; Hargreaves I; Land JM; Wang MX; Carpenter K; Horvath R; Straub V; Lek M; Gold W; Farrell MO; Brandner S; Phadke R; Matsubara K; McGarvey ML; Scherer SS; Baxter PS; King MD; Clayton P; Rahman S; Reilly MM; Ouvrier RA; Christodoulou J; Züchner S; Muntoni F; Houlden H
    Brain; 2014 Jan; 137(Pt 1):44-56. PubMed ID: 24253200
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Brown-Vialetto-van Laere syndrome: a riboflavin responsive neuronopathy of infancy with singular features.
    Spagnoli C; Pitt MC; Rahman S; de Sousa C
    Eur J Paediatr Neurol; 2014 Mar; 18(2):231-4. PubMed ID: 24206674
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Brown-Vialetto-Van Laere and Fazio-Londe syndromes: SLC52A3 mutations with puzzling phenotypes and inheritance.
    Gayathri S; Gowda VK; Udhayabanu T; O'Callaghan B; Efthymiou S; Varalakshmi P; Benakappa N; Houlden H; Ashokkumar B
    Eur J Neurol; 2021 Mar; 28(3):945-954. PubMed ID: 33325104
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A Case Report of Riboflavin Treatment and Cochlear Implants in a 4-Year-Old Girl with Progressive Hearing Loss and Delayed Speech Development: Brown-Vialetto-Van Laere Syndrome.
    Piecuch AK; Skarżyński PH; Skarżyński H
    Am J Case Rep; 2023 Oct; 24():e940439. PubMed ID: 37786244
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.
    Ciccolella M; Corti S; Catteruccia M; Petrini S; Tozzi G; Rizza T; Carrozzo R; Nizzardo M; Bordoni A; Ronchi D; D'Amico A; Rizzo C; Comi GP; Bertini E
    J Med Genet; 2013 Feb; 50(2):104-7. PubMed ID: 23243084
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A case report of sudden-onset auditory neuropathy spectrum disorder associated with Brown-Vialetto-Van Laere syndrome (riboflavin transporter deficiency).
    Gedik Soyuyuce O; Ayanoglu Aksoy E; Yapici Z
    Int J Audiol; 2022 Mar; 61(3):258-264. PubMed ID: 33983862
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Oral therapy for riboflavin transporter deficiency - What is the regimen of choice?
    Gorcenco S; Vaz FM; Tracewska-Siemiatkowska A; Tranebjærg L; Cremers FPM; Ygland E; Kicsi J; Rendtorff ND; Möller C; Kjellström U; Andréasson S; Puschmann A
    Parkinsonism Relat Disord; 2019 Apr; 61():245-247. PubMed ID: 30343981
    [No Abstract]   [Full Text] [Related]  

  • 13. The audiovestibular profile of Brown-Vialetto-Van Laere syndrome.
    Omar R; Rajput K; Sirimanna T; Rajput S; Pagarkar W
    J Laryngol Otol; 2021 Nov; 135(11):1000-1009. PubMed ID: 34496984
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome.
    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
    J Inherit Metab Dis; 2012 Nov; 35(6):943-8. PubMed ID: 22864630
    [TBL] [Abstract][Full Text] [Related]  

  • 15. An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency.
    O'Callaghan B; Bosch AM; Houlden H
    J Inherit Metab Dis; 2019 Jul; 42(4):598-607. PubMed ID: 30793323
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical presentation and outcome of riboflavin transporter deficiency: mini review after five years of experience.
    Jaeger B; Bosch AM
    J Inherit Metab Dis; 2016 Jul; 39(4):559-64. PubMed ID: 26973221
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A Chinese pedigree with Brown-Vialetto-Van Laere syndrome due to two novel mutations of SLC52A2 gene: clinical course and response to riboflavin.
    Shi K; Shi Z; Yan H; Wang X; Yang Y; Xiong H; Gu Q; Wu Y; Jiang Y; Wang J
    BMC Med Genet; 2019 May; 20(1):76. PubMed ID: 31064337
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Riboflavin in Neurological Diseases: A Narrative Review.
    Plantone D; Pardini M; Rinaldi G
    Clin Drug Investig; 2021 Jun; 41(6):513-527. PubMed ID: 33886098
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Genetic, Radiologic, and Clinical Variability in Brown-Vialetto-van Laere Syndrome.
    Woodcock IR; Menezes MP; Coleman L; Yaplito-Lee J; Peters H; White SM; Stapleton R; Phelan DG; Chong B; Lunke S; Stark Z; Pitt J; Ryan MM; Robertson C; Yiu EM
    Semin Pediatr Neurol; 2018 Jul; 26():2-9. PubMed ID: 29961509
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.
    Allison T; Roncero I; Forsyth R; Coffman K; Pichon JL
    J Child Neurol; 2017 May; 32(6):528-532. PubMed ID: 28116953
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 14.