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

254 related items for PubMed ID: 28875337

  • 21. Mitochondrial acetoacetyl-CoA thiolase deficiency: basal ganglia impairment may occur independently of ketoacidosis.
    Paquay S, Bourillon A, Pichard S, Benoist JF, de Lonlay P, Dobbelaere D, Fouilhoux A, Guffon N, Rouvet I, Labarthe F, Mention K, Touati G, Valayannopoulos V, Ogier de Baulny H, Elmaleh-Bergès M, Acquaviva-Bourdain C, Vianey-Saban C, Schiff M.
    J Inherit Metab Dis; 2017 May; 40(3):415-422. PubMed ID: 28255778
    [Abstract] [Full Text] [Related]

  • 22. Exon 10 skipping in ACAT1 caused by a novel c.949G>A mutation located at an exonic splice enhancer site.
    Otsuka H, Sasai H, Nakama M, Aoyama Y, Abdelkreem E, Ohnishi H, Konstantopoulou V, Sass JO, Fukao T.
    Mol Med Rep; 2016 Nov; 14(5):4906-4910. PubMed ID: 27748876
    [Abstract] [Full Text] [Related]

  • 23. [A case of beta-ketothiolase deficiency].
    Zhan JY, Liang L, Dong GP.
    Zhonghua Er Ke Za Zhi; 2006 Sep; 44(9):703-4. PubMed ID: 17217670
    [No Abstract] [Full Text] [Related]

  • 24. Infantile Neurodegeneration Results from Mutants of 17β-Hydroxysteroid Dehydrogenase Type 10 Rather Than Aβ-Binding Alcohol Dehydrogenase.
    He XY, Dobkin C, Brown WT, Yang SY.
    Int J Mol Sci; 2023 May 09; 24(10):. PubMed ID: 37239833
    [Abstract] [Full Text] [Related]

  • 25. Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.
    Fukao T, Song XQ, Yamaguchi S, Orii T, Wanders RJ, Poll-The BT, Hashimoto T.
    Hum Mutat; 1995 May 09; 5(1):94-6. PubMed ID: 7728155
    [No Abstract] [Full Text] [Related]

  • 26. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.
    Søvik O.
    J Inherit Metab Dis; 1993 May 09; 16(1):46-54. PubMed ID: 8487503
    [Abstract] [Full Text] [Related]

  • 27. Identification of three novel frameshift mutations (83delAT, 754insCT, and 435 + 1G to A) of mitochondrial acetoacetyl-coenzyme A thiolase gene in two Swiss patients with CRM-negative beta-ketothiolase deficiency.
    Fukao T, Song XQ, Yamaguchi S, Kondo N, Orii T, Matthieu JM, Bachmann C, Hashimoto T.
    Hum Mutat; 1997 May 09; 9(3):277-9. PubMed ID: 9090533
    [No Abstract] [Full Text] [Related]

  • 28. beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel.
    Gibson KM, Elpeleg ON, Bennett MJ.
    J Inherit Metab Dis; 1996 May 09; 19(5):698-9. PubMed ID: 8892029
    [No Abstract] [Full Text] [Related]

  • 29. Multiple functions of type 10 17beta-hydroxysteroid dehydrogenase.
    Yang SY, He XY, Schulz H.
    Trends Endocrinol Metab; 2005 May 09; 16(4):167-75. PubMed ID: 15860413
    [Abstract] [Full Text] [Related]

  • 30. 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.
    Grünert SC, Sass JO.
    Orphanet J Rare Dis; 2020 Apr 28; 15(1):106. PubMed ID: 32345314
    [Abstract] [Full Text] [Related]

  • 31. Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy.
    Wang Y, Gao Q, Wang W, Xin X, Yin Y, Zhao C, Jin Y.
    J Pediatr Endocrinol Metab; 2022 Sep 27; 35(9):1194-1200. PubMed ID: 35850931
    [Abstract] [Full Text] [Related]

  • 32. Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
    Fukao T, Aoyama Y, Murase K, Hori T, Harijan RK, Wierenga RK, Boneh A, Kondo N.
    Mol Genet Metab; 2013 Sep 27; 110(1-2):184-7. PubMed ID: 23920042
    [Abstract] [Full Text] [Related]

  • 33. Spastic diplegia and periventricular white matter abnormalities in 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, a defect of isoleucine metabolism: differential diagnosis with hypoxic-ischemic brain diseases.
    Poll-The BT, Wanders RJ, Ruiter JP, Ofman R, Majoie CB, Barth PG, Duran M.
    Mol Genet Metab; 2004 Apr 27; 81(4):295-9. PubMed ID: 15059617
    [Abstract] [Full Text] [Related]

  • 34. Mitochondrial acetoacetyl-CoA thiolase (T2) deficiency: T2-deficient patients with "mild" mutation(s) were previously misinterpreted as normal by the coupled assay with tiglyl-CoA.
    Zhang GX, Fukao T, Rolland MO, Zabot MT, Renom G, Touma E, Kondo M, Matsuo N, Kondo N.
    Pediatr Res; 2004 Jul 27; 56(1):60-4. PubMed ID: 15128923
    [Abstract] [Full Text] [Related]

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

  • 36.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 37.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

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

  • 39.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 40. Identification of TaqI polymorphism in the mitochondrial acetoacetyl-CoA thiolase gene and familial analysis of 3-ketothiolase deficiency.
    Kuwahara T, Fukao T, Kano M, Yamaguchi S, Orii T, Hashimoto T.
    Hum Genet; 1992 Nov 27; 90(3):208-10. PubMed ID: 1362557
    [Abstract] [Full Text] [Related]

    Page: [Previous] [Next] [New Search]
    of 13.