These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

157 related articles for article (PubMed ID: 31014436)

  • 1. [Paroxysmal crying and motor regression for more than two months in an infant].
    Wen YX; Wang JP; Chen Y; Bao XH
    Zhongguo Dang Dai Er Ke Za Zhi; 2019 Apr; 21(4):399-404. PubMed ID: 31014436
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Are diagnostic magnetic resonance patterns life-saving in children with biotin-thiamine-responsive basal ganglia disease?
    Kamaşak T; Havalı C; İnce H; Eyüboğlu İ; Çebi AH; Sahin S; Cansu A; Aydin K
    Eur J Paediatr Neurol; 2018 Nov; 22(6):1139-1149. PubMed ID: 30054086
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Case report: biotin-thiamine-responsive basal ganglia disease with severe subdural hematoma on magnetic resonance imaging.
    Huang H; Jiang H; Yang M; Gao Y; Cao L
    Int J Neurosci; 2024 Jun; 134(2):184-192. PubMed ID: 35775132
    [No Abstract]   [Full Text] [Related]  

  • 4. Biotin-Responsive Basal Ganglia Disease: Treatable Metabolic Disorder with SLC19A3 Mutation Presenting as Rapidly Progressive Dementia.
    Oommen AT; Polavarapu K; Christopher R; Netravathi M
    Neurol India; 2022; 70(2):733-736. PubMed ID: 35532649
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Beyond the caudate nucleus: Early atypical neuroimaging findings in biotin-thiamine- responsive basal ganglia disease.
    Alsini H; Alnozha A; Asmat Z; Hundallah K; Alfadhel M; Tabarki B
    Brain Dev; 2022 Oct; 44(9):618-622. PubMed ID: 35811190
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Biotin-thiamine-responsive basal ganglia disease: catastrophic consequences of delay in diagnosis and treatment.
    Algahtani H; Ghamdi S; Shirah B; Alharbi B; Algahtani R; Bazaid A
    Neurol Res; 2017 Feb; 39(2):117-125. PubMed ID: 27905264
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Stress-induced upregulation of SLC19A3 is impaired in biotin-thiamine-responsive basal ganglia disease.
    Schänzer A; Döring B; Ondrouschek M; Goos S; Garvalov BK; Geyer J; Acker T; Neubauer B; Hahn A
    Brain Pathol; 2014 Apr; 24(3):270-9. PubMed ID: 24372704
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Biotin-responsive basal ganglia disease should be renamed biotin-thiamine-responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of 18 new cases.
    Alfadhel M; Almuntashri M; Jadah RH; Bashiri FA; Al Rifai MT; Al Shalaan H; Al Balwi M; Al Rumayan A; Eyaid W; Al-Twaijri W
    Orphanet J Rare Dis; 2013 Jun; 8():83. PubMed ID: 23742248
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Biotin Thiamin Responsive Basal Ganglia Disease in Siblings.
    Gowda VK; Srinivasan VM; Bhat M; Benakappa N
    Indian J Pediatr; 2018 Feb; 85(2):155-157. PubMed ID: 29101630
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Biotin-thiamine responsive basal ganglia disease: a retrospective review of the clinical, radiological and molecular findings of cases in Kuwait with novel variants.
    Aburezq M; Alahmad A; Alsafi R; Al-Tawari A; Ramadan D; Shafik M; Abdelaty O; Makhseed N; Elshafie R; Ayed M; Hayat A; Dashti F; Marafi D; Albash B; Bastaki L; Alsharhan H
    Orphanet J Rare Dis; 2023 Sep; 18(1):271. PubMed ID: 37670342
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Child Neurology: Infantile Biotin Thiamine Responsive Basal Ganglia Disease: Case Report and Brief Review.
    Maney K; Pizoli C; Russ JB
    Neurology; 2023 Apr; 100(17):836-839. PubMed ID: 36657988
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy.
    Flønes I; Sztromwasser P; Haugarvoll K; Dölle C; Lykouri M; Schwarzlmüller T; Jonassen I; Miletic H; Johansson S; Knappskog PM; Bindoff LA; Tzoulis C
    PLoS One; 2016; 11(2):e0149055. PubMed ID: 26863430
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Compound heterozygous
    Whitford W; Hawkins I; Glamuzina E; Wilson F; Marshall A; Ashton F; Love DR; Taylor J; Hill R; Lehnert K; Snell RG; Jacobsen JC
    Cold Spring Harb Mol Case Stud; 2017 Nov; 3(6):. PubMed ID: 28696212
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neonatal form of biotin-thiamine-responsive basal ganglia disease. Clues to diagnosis.
    Değerliyurt A; Gündüz M; Ceylaner S; Ünal Ö; Ünal S
    Turk J Pediatr; 2019; 61(2):261-266. PubMed ID: 31951338
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Efficacy of high thiamine dosage in treating patients with biotin thiamine responsive basal ganglia disease: a two case reports.
    Aldosari AN
    Int J Neurosci; 2024 May; ():1-5. PubMed ID: 38709666
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Early treatment of biotin-thiamine-responsive basal ganglia disease improves the prognosis.
    Wesół-Kucharska D; Greczan M; Kaczor M; Pajdowska M; Piekutowska-Abramczuk D; Ciara E; Halat-Wolska P; Kowalski P; Jurkiewicz E; Rokicki D
    Mol Genet Metab Rep; 2021 Dec; 29():100801. PubMed ID: 34631424
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Biotin and Thiamine Responsive Basal Ganglia Disease--A vital differential diagnosis in infants with severe encephalopathy.
    Ygberg S; Naess K; Eriksson M; Stranneheim H; Lesko N; Barbaro M; Wibom R; Wang C; Wedell A; Wickström R
    Eur J Paediatr Neurol; 2016 May; 20(3):457-61. PubMed ID: 26975589
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Single gene, two diseases, and multiple clinical presentations: Biotin-thiamine-responsive basal ganglia disease.
    Kılıç B; Topçu Y; Dursun Ş; Erol İ; Dolu MH; Taşdemir HA; Aydın K
    Brain Dev; 2020 Sep; 42(8):572-580. PubMed ID: 32600842
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Unusual case of biotin-thiamine responsive encephalopathy without basal ganglia involvement.
    Kelsch RD; Nolan DA; Krishnan A
    Pediatr Radiol; 2021 Mar; 51(3):485-488. PubMed ID: 33000323
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Identification of two novel SLC19A3 variants in a Chinese patient with Biotin-thiamine responsive basal ganglia disease].
    Gao M; Huang Y; Zhang K; Lyu Y; Dong R; Ma J; Wang D; Gai Z; Liu Y
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Feb; 37(2):162-165. PubMed ID: 32034746
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.