BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

248 related articles for article (PubMed ID: 29419877)

  • 1. [Defect of thiamine transport and activation and related disease].
    Xian X; Lin F
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Feb; 35(1):121-124. PubMed ID: 29419877
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
    Odaman-Al I; Gezdirici A; Yıldız M; Ersoy G; Aydoğan G; Şalcıoğlu Z; Tahtakesen TN; Önal H; Küçükemre-Aydın B
    Turk J Pediatr; 2019; 61(2):257-260. PubMed ID: 31951336
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Novel Mutation of SLC19A2 in a Chinese Zhuang Ethnic Family with Thiamine-Responsive Megaloblastic Anemia.
    Xian X; Liao L; Shu W; Li H; Qin Y; Yan J; Luo J; Lin FQ
    Cell Physiol Biochem; 2018; 47(5):1989-1997. PubMed ID: 29969779
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A novel mutation in the SLC19A2 gene in a Turkish male with thiamine-responsive megaloblastic anemia syndrome.
    Odaman-Al I; Gezdirici A; Yıldız M; Ersoy G; Aydoğan G; Şalcıoğlu Z; Tahtakesen TN; Önal H; Küçükemre-Aydın B
    Turk J Pediatr; 2019; 61(2):257-260. PubMed ID: 31951337
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Infantile-onset thiamine responsive megaloblastic anemia syndrome with SLC19A2 mutation: a case report.
    Katipoğlu N; Karapinar TH; Demir K; Aydin Köker S; Nalbantoğlu Ö; Ay Y; Korkmaz HA; Oymak Y; Yıldız M; Tunç S; Hazan F; Vergin C; Ozkan B
    Arch Argent Pediatr; 2017 Jun; 115(3):e153-e156. PubMed ID: 28504500
    [TBL] [Abstract][Full Text] [Related]  

  • 6. The Effects of Genetic Mutations and Drugs on the Activity of the Thiamine Transporter, SLC19A2.
    Enogieru OJ; Koleske ML; Vora B; Ngo H; Yee SW; Chatad D; Sirota M; Giacomini KM
    AAPS J; 2021 Mar; 23(2):35. PubMed ID: 33649974
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Genetic defects of thiamine transport and metabolism: A review of clinical phenotypes, genetics, and functional studies.
    Marcé-Grau A; Martí-Sánchez L; Baide-Mairena H; Ortigoza-Escobar JD; Pérez-Dueñas B
    J Inherit Metab Dis; 2019 Jul; 42(4):581-597. PubMed ID: 31095747
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 50 Years Ago in The Journal of Pediatrics: Thiamine-Responsive Megaloblastic Anemia.
    Mullikin D; Grimes AB
    J Pediatr; 2019 Apr; 207():53. PubMed ID: 30922504
    [No Abstract]   [Full Text] [Related]  

  • 9. Whole exome sequencing identifies a new mutation in the SLC19A2 gene leading to thiamine-responsive megaloblastic anemia in an Egyptian family.
    Amr K; Pawlikowska P; Aoufouchi S; Rosselli F; El-Kamah G
    Mol Genet Genomic Med; 2019 Jul; 7(7):e00777. PubMed ID: 31144472
    [TBL] [Abstract][Full Text] [Related]  

  • 10. First 2 cases with thiamine-responsive megaloblastic anemia in the Czech Republic, a rare form of monogenic diabetes mellitus: a novel mutation in the thiamine transporter SLC19A2 gene-intron 1 mutation c.204+2T>G.
    Pomahačová R; Zamboryová J; Sýkora J; Paterová P; Fiklík K; Votava T; Černá Z; Jehlička P; Lád V; Šubrt I; Dort J; Dortová E
    Pediatr Diabetes; 2017 Dec; 18(8):844-847. PubMed ID: 28004468
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Thiamine responsive megaloblastic anemia syndrome: a novel homozygous SLC19A2 gene mutation identified.
    Mikstiene V; Songailiene J; Byckova J; Rutkauskiene G; Jasinskiene E; Verkauskiene R; Lesinskas E; Utkus A
    Am J Med Genet A; 2015 Jul; 167(7):1605-9. PubMed ID: 25707023
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Thiamine responsive megaloblastic anemia with a novel SLC19A2 mutation presenting with myeloid maturational arrest.
    Dua V; Yadav SP; Kumar V; Khan AA; Puri R; Verma I; Flanagan SE; Ellard S; Sachdeva A
    Pediatr Blood Cancer; 2013 Jul; 60(7):1242-3. PubMed ID: 23512295
    [No Abstract]   [Full Text] [Related]  

  • 13. Thiamine-responsive megaloblastic anemia syndrome with Ebstein anomaly: a case report.
    Akbari MT; Zare Karizi S; Mirfakhraie R; Keikhaei B
    Eur J Pediatr; 2014 Dec; 173(12):1663-5. PubMed ID: 24357267
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Targeting and intracellular trafficking of clinically relevant hTHTR1 mutations in human cell lines.
    Subramanian VS; Marchant JS; Said HM
    Clin Sci (Lond); 2007 Jul; 113(2):93-102. PubMed ID: 17331069
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel nonsense mutation (p.Ile411Metfs*12) in the SLC19A2 gene causing Thiamine Responsive Megaloblastic Anemia in an Indian patient.
    Manimaran P; Subramanian VS; Karthi S; Gandhimathi K; Varalakshmi P; Ganesh R; Rathinavel A; Said HM; Ashokkumar B
    Clin Chim Acta; 2016 Jan; 452():44-9. PubMed ID: 26549656
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Thiamine Responsive Megaloblastic Anaemia, Diabetes Mellitus and Sensorineural Hearing Loss in a Child.
    Khurshid A; Fatimah S; Altaf C; Malik HS; Sajjad Z; Khadim MT
    J Coll Physicians Surg Pak; 2018 Sep; 28(9):S169-S171. PubMed ID: 30173687
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Pharmacogenomics in diabetes: outcomes of thiamine therapy in TRMA syndrome.
    Habeb AM; Flanagan SE; Zulali MA; Abdullah MA; Pomahačová R; Boyadzhiev V; Colindres LE; Godoy GV; Vasanthi T; Al Saif R; Setoodeh A; Haghighi A; Haghighi A; Shaalan Y; ; Hattersley AT; Ellard S; De Franco E
    Diabetologia; 2018 May; 61(5):1027-1036. PubMed ID: 29450569
    [TBL] [Abstract][Full Text] [Related]  

  • 18. TRMA syndrome with a severe phenotype, cerebral infarction, and novel compound heterozygous SLC19A2 mutation: a case report.
    Li X; Cheng Q; Ding Y; Li Q; Yao R; Wang J; Wang X
    BMC Pediatr; 2019 Jul; 19(1):233. PubMed ID: 31296181
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A novel mutation in the SLC19A2 gene in a Turkish female with thiamine-responsive megaloblastic anemia syndrome.
    Yeşilkaya E; Bideci A; Temizkan M; Kaya Z; Camurdan O; Koç A; Bozkaya D; Koçak U; Cinaz P
    J Trop Pediatr; 2009 Aug; 55(4):265-7. PubMed ID: 18614593
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Disruption of transport activity in a D93H mutant thiamine transporter 1, from a Rogers Syndrome family.
    Baron D; Assaraf YG; Drori S; Aronheim A
    Eur J Biochem; 2003 Nov; 270(22):4469-77. PubMed ID: 14622275
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.