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.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

509 related items for PubMed ID: 17412732

  • 21. High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy.
    Lan MY, Fu MH, Liu YF, Huang CC, Chang YY, Liu JS, Peng CH, Chen SS.
    Clin Genet; 2010 Dec; 78(6):565-9. PubMed ID: 20370797
    [Abstract] [Full Text] [Related]

  • 22. Novel ETFDH mutation and imaging findings in an adult with glutaric aciduria type II.
    Rosenbohm A, Süssmuth SD, Kassubek J, Müller HP, Pontes C, Abicht A, Bulst S, Ludolph AC, Pinkhardt E.
    Muscle Nerve; 2014 Mar; 49(3):446-50. PubMed ID: 23893693
    [Abstract] [Full Text] [Related]

  • 23. Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle.
    Wolfe LA, He M, Vockley J, Payne N, Rhead W, Hoppel C, Spector E, Gernert K, Gibson KM.
    J Inherit Metab Dis; 2010 Dec; 33 Suppl 3(0 3):S481-7. PubMed ID: 21088898
    [Abstract] [Full Text] [Related]

  • 24. Glutaric aciduria type 2, late onset type in Thai siblings with myopathy.
    Wasant P, Kuptanon C, Vattanavicharn N, Liammongkolkul S, Ratanarak P, Sangruchi T, Yamaguchi S.
    Pediatr Neurol; 2010 Oct; 43(4):279-82. PubMed ID: 20837308
    [Abstract] [Full Text] [Related]

  • 25. A novel electron transfer flavoprotein dehydrogenase (ETFDH) gene mutation identified in a newborn with glutaric acidemia type II: a case report of a Chinese family.
    Ou M, Zhu L, Zhang Y, Zhang Y, Zhou J, Zhang Y, Chen X, Yang L, Li T, Su X, Hu Q, Wang W.
    BMC Med Genet; 2020 May 11; 21(1):98. PubMed ID: 32393189
    [Abstract] [Full Text] [Related]

  • 26.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 27. Amelioration of acylcarnitine profile using bezafibrate and riboflavin in a case of adult-onset glutaric acidemia type 2 with novel mutations of the electron transfer flavoprotein dehydrogenase (ETFDH) gene.
    Shioya A, Takuma H, Yamaguchi S, Ishii A, Hiroki M, Fukuda T, Sugie H, Shigematsu Y, Tamaoka A.
    J Neurol Sci; 2014 Nov 15; 346(1-2):350-2. PubMed ID: 25216552
    [No Abstract] [Full Text] [Related]

  • 28. [Mutation analysis for a family affected with riboflavin responsive-multiple acyl-CoA dehydrogenase deficiency].
    Lu J, Ji L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Aug 15; 31(4):428-32. PubMed ID: 25119904
    [Abstract] [Full Text] [Related]

  • 29.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 30.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 31.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 32. Multiple acyl-CoA-dehydrogenase deficiency (MADD)--a novel mutation of electron-transferring-flavoprotein dehydrogenase ETFDH.
    Lämmer AB, Rolinski B, Ahting U, Heuss D.
    J Neurol Sci; 2011 Aug 15; 307(1-2):166-7. PubMed ID: 21616504
    [Abstract] [Full Text] [Related]

  • 33. So doctor, what exactly is wrong with my muscles? Glutaric aciduria type II presenting in a teenager.
    Beresford MW, Pourfarzam M, Turnbull DM, Davidson JE.
    Neuromuscul Disord; 2006 Apr 15; 16(4):269-73. PubMed ID: 16527485
    [Abstract] [Full Text] [Related]

  • 34. Characterization of ETFDH and PHGDH Mutations in a Patient with Mild Glutaric Aciduria Type II and Serine Deficiency.
    Ali A, Dhahouri NA, Almesmari FSA, Fathalla WM, Jasmi FA.
    Genes (Basel); 2021 May 08; 12(5):. PubMed ID: 34066864
    [Abstract] [Full Text] [Related]

  • 35.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 36. [Clinical features and ETFDH mutations of children with late-onset glutaric aciduria type II: a report of two cases].
    Cheng YY, Tang Y, Liu AJ, Wei L, Lin L, Zhang J, Zhi L.
    Zhongguo Dang Dai Er Ke Za Zhi; 2017 Sep 08; 19(9):975-978. PubMed ID: 28899466
    [Abstract] [Full Text] [Related]

  • 37. Multiple acyl-CoA dehydrogenation deficiency as decreased acyl-carnitine profile in serum.
    Wen B, Li D, Li W, Zhao Y, Yan C.
    Neurol Sci; 2015 Jun 08; 36(6):853-9. PubMed ID: 25827849
    [Abstract] [Full Text] [Related]

  • 38.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 39. A boy with neck weakness.
    Yiş U, Becker K, Çırak S.
    Neuromuscul Disord; 2018 Mar 08; 28(3):236-237. PubMed ID: 29339009
    [No Abstract] [Full Text] [Related]

  • 40.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 26.