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 *

174 related articles for article (PubMed ID: 36384734)

  • 1. Diagnosis, treatment and genetic analysis of a case of skin hyperpigmentation as the only manifestation with X-linked adrenoleukodystrophy.
    Yu JY; Chen T; Wang ZH; Zheng J; Zeng TS
    Yi Chuan; 2022 Oct; 44(10):983-989. PubMed ID: 36384734
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Easily misdiagnosed X-linked adrenoleukodystrophy.
    Wang QH; Wang YY; Wang J; Liu LY; Gao J; Hao GZ; Chen C; Lu Q; Dun S; Zhang Q; Zou LP
    Ital J Pediatr; 2024 Jul; 50(1):124. PubMed ID: 38956688
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A 29-year-old patient with adrenoleukodystrophy presenting with Addison's disease.
    Tanaka H; Amano N; Tanaka K; Katsuki T; Adachi T; Shimozawa N; Kawai T
    Endocr J; 2020 Jun; 67(6):655-658. PubMed ID: 32101828
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Adrenoleukodystrophy: a forgotten diagnosis in children with primary Addison's disease.
    Nascimento M; Rodrigues N; Espada F; Fonseca M
    BMJ Case Rep; 2012 Aug; 2012():. PubMed ID: 22914231
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The clinical spectrum of X-linked adrenoleukodystrophy: from Addison's-only in men to middle-age neurologic manifestations in women.
    Fadiga L; Melo M; Saraiva J; Paiva I
    Hormones (Athens); 2022 Mar; 21(1):33-40. PubMed ID: 34652632
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel mutation in the ABCD1 gene of a Chinese patient with X-linked adrenoleukodystrophy: Case report.
    Wang J; Zhu Q; Liu H
    Medicine (Baltimore); 2018 May; 97(21):e10837. PubMed ID: 29794777
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy.
    Chu SS; Ye J; Zhang HW; Han LS; Qiu WJ; Gao XL; Gu XF
    World J Pediatr; 2015 Nov; 11(4):366-73. PubMed ID: 26454440
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A Distinct Clinical Phenotype in Two Siblings with X-linked Adrenoleukodystrophy.
    Ozdemir Kutbay N; Ozbek MN; Sarer Yurekli B; Demirbilek H
    Neuro Endocrinol Lett; 2019 Mar; 40(1):36-40. PubMed ID: 31184821
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Brainstem dominant form of X-linked adrenoleukodystrophy with a novel ABCD1 missense variant: A case report and literature review.
    Kang Y; Guo L; Min Z; Zhang L; Zhang L; Tang C
    Mol Genet Genomic Med; 2024 Jul; 12(7):e2499. PubMed ID: 39051462
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel
    Cho YK; Lee SY; Kim SW
    Endocrinol Metab (Seoul); 2020 Mar; 35(1):188-191. PubMed ID: 32207279
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel ABCD1 gene mutation causes adrenomyeloneuropathy in a Chinese family.
    Wang C; Liu H; Han B; Zhu H; Liu J
    Brain Behav; 2019 Oct; 9(10):e01416. PubMed ID: 31557422
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Diverse clinical manifestations of X-linked adrenoleukodystrophy in a Chinese family with identical multisite variants of ABCD1 gene.
    Zhang L; Zhao SL; Wang ZH
    Psychiatr Genet; 2021 Oct; 31(5):162-167. PubMed ID: 34347682
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Impaired very long-chain acyl-CoA β-oxidation in human X-linked adrenoleukodystrophy fibroblasts is a direct consequence of ABCD1 transporter dysfunction.
    Wiesinger C; Kunze M; Regelsberger G; Forss-Petter S; Berger J
    J Biol Chem; 2013 Jun; 288(26):19269-79. PubMed ID: 23671276
    [TBL] [Abstract][Full Text] [Related]  

  • 14. X-linked adrenoleukodystrophy diagnosed in three brothers.
    Herman M; Jura M; Krakowska K; Barg E
    Pediatr Endocrinol Diabetes Metab; 2019; 25(2):95-98. PubMed ID: 31343142
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Case report of dysregulation of primary bile acid synthesis in a family with X-linked adrenoleukodystrophy.
    Płatek T; Orso E; Zapała B; Polus A; Kieć-Wilk B; Piwowar M; Chojnacka M; Ciałowicz U; Malczewska-Malec M; Schmitz G; Solnica B; Dembińska-Kieć A
    Medicine (Baltimore); 2018 Dec; 97(49):e13353. PubMed ID: 30544401
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A report on state-wide implementation of newborn screening for X-linked Adrenoleukodystrophy.
    Wiens K; Berry SA; Choi H; Gaviglio A; Gupta A; Hietala A; Kenney-Jung D; Lund T; Miller W; Pierpont EI; Raymond G; Winslow H; Zierhut HA; Orchard PJ
    Am J Med Genet A; 2019 Jul; 179(7):1205-1213. PubMed ID: 31074578
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular characterization of X-linked adrenoleukodystrophy in a Tunisian family: identification of a novel missense mutation in the ABCD1 gene.
    Kallabi F; Hadj Salem I; Ben Salah G; Ben Turkia H; Ben Chehida A; Tebib N; Fakhfakh F; Kamoun H
    Neurodegener Dis; 2013; 12(4):207-11. PubMed ID: 23651979
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Spastic paraplegia as the predominant phenotype in a cohort of Chinese patients with adrenoleukodystrophy.
    Luo WJ; Wei Q; Dong HL; Yan YT; Chen MJ; Li HF
    Mol Genet Genomic Med; 2020 Jan; 8(1):e1065. PubMed ID: 31777199
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Investigating ABCD1 mutations in a Taiwanese cohort with hereditary spastic paraplegia phenotype.
    Hsu SL; Chen YH; Chou CT; Chou YT; Tsai YS; Hsiao CT; Liao YC; Lee YC
    Parkinsonism Relat Disord; 2021 Nov; 92():7-12. PubMed ID: 34649108
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Structure and Function of the
    Mallack EJ; Gao K; Engelen M; Kemp S
    Cells; 2022 Jan; 11(2):. PubMed ID: 35053399
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.