BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

187 related articles for article (PubMed ID: 33728241)

  • 1. Early-onset vitamin B
    Heath O; Pitt J; Mandelstam S; Kuschel C; Vasudevan A; Donoghue S
    JIMD Rep; 2021 Mar; 58(1):3-11. PubMed ID: 33728241
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Diagnostic pitfalls in vitamin B6-dependent epilepsy caused by mutations in the
    Jensen KV; Frid M; Stödberg T; Barbaro M; Wedell A; Christensen M; Bak M; Ek J; Madsen CG; Darin N; Grønborg S
    JIMD Rep; 2019 Nov; 50(1):1-8. PubMed ID: 31741821
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Vitamin B6-dependent epilepsy due to pyridoxal phosphate-binding protein (PLPBP) defect - First case report from Pakistan and review of literature.
    Ahmed S; DeBerardinis RJ; Ni M; Afroze B
    Ann Med Surg (Lond); 2020 Dec; 60():721-727. PubMed ID: 33425341
    [TBL] [Abstract][Full Text] [Related]  

  • 4. PLPHP deficiency: clinical, genetic, biochemical, and mechanistic insights.
    Johnstone DL; Al-Shekaili HH; Tarailo-Graovac M; Wolf NI; Ivy AS; Demarest S; Roussel Y; Ciapaite J; van Roermund CWT; Kernohan KD; Kosuta C; Ban K; Ito Y; McBride S; Al-Thihli K; Abdelrahim RA; Koul R; Al Futaisi A; Haaxma CA; Olson H; Sigurdardottir LY; Arnold GL; Gerkes EH; Boon M; Heiner-Fokkema MR; Noble S; Bosma M; Jans J; Koolen DA; Kamsteeg EJ; Drögemöller B; Ross CJ; Majewski J; Cho MT; Begtrup A; Wasserman WW; Bui T; Brimble E; Violante S; Houten SM; Wevers RA; van Faassen M; Kema IP; Lepage N; ; Lines MA; Dyment DA; Wanders RJA; Verhoeven-Duif N; Ekker M; Boycott KM; Friedman JM; Pena IA; van Karnebeek CDM
    Brain; 2019 Mar; 142(3):542-559. PubMed ID: 30668673
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Infantile Spasms without Hypsarrhythmia and Paroxysmal Eye-Head Movements in an Infant with a Pyridoxine-Dependent Epilepsy due to PLPBP/PLPHP Deficiency.
    Kalser J; Giuliano F; Peralta M; Plecko B; Bölsterli BK
    Neuropediatrics; 2023 Dec; 54(6):422-425. PubMed ID: 36577449
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Maintenance of cellular vitamin B
    Ciapaite J; van Roermund CWT; Bosma M; Gerrits J; Houten SM; IJlst L; Waterham HR; van Karnebeek CDM; Wanders RJA; Zwartkruis FJT; Jans JJ; Verhoeven-Duif NM
    J Biol Chem; 2023 Sep; 299(9):105047. PubMed ID: 37451483
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Disorders affecting vitamin B
    Wilson MP; Plecko B; Mills PB; Clayton PT
    J Inherit Metab Dis; 2019 Jul; 42(4):629-646. PubMed ID: 30671974
    [TBL] [Abstract][Full Text] [Related]  

  • 8.
    Shiraku H; Nakashima M; Takeshita S; Khoo CS; Haniffa M; Ch'ng GS; Takada K; Nakajima K; Ohta M; Okanishi T; Kanai S; Fujimoto A; Saitsu H; Matsumoto N; Kato M
    Epilepsia Open; 2018 Dec; 3(4):495-502. PubMed ID: 30525118
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B
    Darin N; Reid E; Prunetti L; Samuelsson L; Husain RA; Wilson M; El Yacoubi B; Footitt E; Chong WK; Wilson LC; Prunty H; Pope S; Heales S; Lascelles K; Champion M; Wassmer E; Veggiotti P; de Crécy-Lagard V; Mills PB; Clayton PT
    Am J Hum Genet; 2016 Dec; 99(6):1325-1337. PubMed ID: 27912044
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Insight into vitamin B
    Tremiño L; Forcada-Nadal A; Rubio V
    Hum Mutat; 2018 Jul; 39(7):1002-1013. PubMed ID: 29689137
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A Rare Presentation Characterized by Epileptic Spasms in
    Jiao X; Gong P; Niu Y; Zhang Y; Yang Z
    Front Genet; 2022; 13():804461. PubMed ID: 35495162
    [No Abstract]   [Full Text] [Related]  

  • 12. Mechanism of Pyridoxine 5'-Phosphate Accumulation in Pyridoxal 5'-Phosphate-Binding Protein Deficiency.
    Ito T; Ogawa H; Hemmi H; Downs DM; Yoshimura T
    J Bacteriol; 2022 Mar; 204(3):e0052121. PubMed ID: 34978460
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pyridoxine-dependent Epilepsy caused by a Novel homozygous mutation in PLPBP Gene.
    İpek R; Çavdartepe BE; Kor D; Okuyaz Ç
    Metab Brain Dis; 2022 Dec; 37(8):3027-3032. PubMed ID: 36308585
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Pyridoxal in the Cerebrospinal Fluid May Be a Better Indicator of Vitamin B6-dependent Epilepsy Than Pyridoxal 5'-Phosphate.
    Akiyama T; Hyodo Y; Hasegawa K; Oboshi T; Imai K; Ishihara N; Dowa Y; Koike T; Yamamoto T; Shibasaki J; Shimbo H; Fukuyama T; Takano K; Shiraku H; Takeshita S; Okanishi T; Baba S; Kubota M; Hamano SI; Kobayashi K
    Pediatr Neurol; 2020 Dec; 113():33-41. PubMed ID: 32980745
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Inborn errors in the vitamin B6 salvage enzymes associated with neonatal epileptic encephalopathy and other pathologies.
    Ghatge MS; Al Mughram M; Omar AM; Safo MK
    Biochimie; 2021 Apr; 183():18-29. PubMed ID: 33421502
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Role of the conserved pyridoxal 5'-phosphate-binding protein YggS/PLPBP in vitamin B6 and amino acid homeostasis.
    Ito T
    Biosci Biotechnol Biochem; 2022 Aug; 86(9):1183-1191. PubMed ID: 35803498
    [TBL] [Abstract][Full Text] [Related]  

  • 17. On pathways and blind alleys-The importance of biomarkers in vitamin B
    Plecko B
    J Inherit Metab Dis; 2023 Sep; 46(5):839-847. PubMed ID: 37428623
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Case report: PLPHP deficiency, a rare but important cause of B6-responsive disorders: A report of three novel individuals and review of 51 cases.
    Alsubhi S; Osterman B; Chrestian N; Dubeau F; Buhas D; Srour M
    Front Neurol; 2022; 13():913652. PubMed ID: 36324377
    [TBL] [Abstract][Full Text] [Related]  

  • 19. The Conserved Family of the Pyridoxal Phosphate-Binding Protein (PLPBP) and Its Cyanobacterial Paradigm PipY.
    Tremiño L; Llop A; Rubio V; Contreras A
    Life (Basel); 2022 Oct; 12(10):. PubMed ID: 36295057
    [TBL] [Abstract][Full Text] [Related]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 10.