147 related articles for article (PubMed ID: 36452)
1. Acetoacetyl CoA thiolase deficiency: a cause of severe ketoacidosis in infancy simulating salicylism.
Robinson BH; Sherwood WG; Taylor J; Balfe JW; Mamer OA
J Pediatr; 1979 Aug; 95(2):228-33. PubMed ID: 36452
[TBL] [Abstract][Full Text] [Related]
2. An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency.
Tilbrook LK; Slater J; Agarwal A; Cyriac J
Ann Clin Biochem; 2008 Sep; 45(Pt 5):524-6. PubMed ID: 18753430
[TBL] [Abstract][Full Text] [Related]
3. Acetoacetyl CoA thiolase deficiency presenting as ketotic hypoglycemia.
Leonard JV; Middleton B; Seakins JW
Pediatr Res; 1987 Feb; 21(2):211-3. PubMed ID: 2881245
[TBL] [Abstract][Full Text] [Related]
4. Biochemical investigations on a patient with a defect in cytosolic acetoacetyl-CoA thiolase, associated with mental retardation.
Bennett MJ; Hosking GP; Smith MF; Gray RG; Middleton B
J Inherit Metab Dis; 1984; 7(3):125-8. PubMed ID: 6150136
[TBL] [Abstract][Full Text] [Related]
5. 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
[TBL] [Abstract][Full Text] [Related]
6. [Mitochondrial acetoacetyl-CoA thiolase deficiency: neonatal onset].
Cubillo Serna I; Suárez Fernández J; Merino Arribas JM; Díaz Ruiz J; Bustamante Hervás C; De Frutos Martínez C
An Pediatr (Barc); 2007 Oct; 67(4):381-4. PubMed ID: 17949650
[TBL] [Abstract][Full Text] [Related]
7. Beta-ketothiolase deficiency in a Malaysian infant.
Rajan D; Constance LSL; Brandon P
Med J Malaysia; 2019 Apr; 74(2):174-175. PubMed ID: 31079130
[TBL] [Abstract][Full Text] [Related]
8. Hyperketotic states due to inherited defects of ketolysis.
Saudubray JM; Specola N; Middleton B; Lombes A; Bonnefont JP; Jakobs C; Vassault A; Charpentier C; Day R
Enzyme; 1987; 38(1-4):80-90. PubMed ID: 2894307
[TBL] [Abstract][Full Text] [Related]
9. Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency.
Grünert SC; Schmitt RN; Schlatter SM; Gemperle-Britschgi C; Balcı MC; Berg V; Çoker M; Das AM; Demirkol M; Derks TGJ; Gökçay G; Uçar SK; Konstantopoulou V; Christoph Korenke G; Lotz-Havla AS; Schlune A; Staufner C; Tran C; Visser G; Schwab KO; Fukao T; Sass JO
Mol Genet Metab; 2017 Sep; 122(1-2):67-75. PubMed ID: 28689740
[TBL] [Abstract][Full Text] [Related]
10. [Mitochondrial acetoacetyl-CoA thiolase deficiency].
Fukao T
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):310-3. PubMed ID: 9590054
[No Abstract] [Full Text] [Related]
11. Biochemical investigation of a Brazilian patient with a defect in mitochondrial acetoacetylcoenzyme-A thiolase.
Wajner M; Sanseverino MT; Giugliani R; Sweetman L; Yamaguchi S; Fukao T; Shih VE
Clin Genet; 1992 Apr; 41(4):202-5. PubMed ID: 1349518
[TBL] [Abstract][Full Text] [Related]
12. The synthesis and characterisation of 2-methylacetoacetyl coenzyme A and its use in the identification of the site of the defect in 2-methylacetoacetic and 2-methyl-3-hydroxybutyric aciduria.
Middleton B; Bartlett K
Clin Chim Acta; 1983 Mar; 128(2-3):291-305. PubMed ID: 6133656
[TBL] [Abstract][Full Text] [Related]
13. Beta-ketothiolase deficiency: An unusual cause of recurrent ketoacidosis.
Kılıç-Yıldırım G; Durmuş-Aydoğdu S; Ceylaner S; Sass JO
Turk J Pediatr; 2017; 59(4):471-474. PubMed ID: 29624230
[TBL] [Abstract][Full Text] [Related]
14. Defect in biosynthesis of mitochondrial acetoacetyl-coenzyme A thiolase in cultured fibroblasts from a boy with 3-ketothiolase deficiency.
Yamaguchi S; Orii T; Sakura N; Miyazawa S; Hashimoto T
J Clin Invest; 1988 Mar; 81(3):813-7. PubMed ID: 2893809
[TBL] [Abstract][Full Text] [Related]
15. The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity.
Fukao T; Zhang GX; Sakura N; Kubo T; Yamaga H; Hazama A; Kohno Y; Matsuo N; Kondo M; Yamaguchi S; Shigematsu Y; Kondo N
J Inherit Metab Dis; 2003; 26(5):423-31. PubMed ID: 14518824
[TBL] [Abstract][Full Text] [Related]
16. Fatty acid oxidation and ketogenesis by astrocytes in primary culture.
Auestad N; Korsak RA; Morrow JW; Edmond J
J Neurochem; 1991 Apr; 56(4):1376-86. PubMed ID: 2002348
[TBL] [Abstract][Full Text] [Related]
17. Ketone body metabolism and its defects.
Fukao T; Mitchell G; Sass JO; Hori T; Orii K; Aoyama Y
J Inherit Metab Dis; 2014 Jul; 37(4):541-51. PubMed ID: 24706027
[TBL] [Abstract][Full Text] [Related]
18. Mild form of beta-ketothiolase deficiency (mitochondrial acetoacetyl-CoA thiolase deficiency) in two Japanese siblings: identification of detectable residual activity and cross-reactive material in EB-transformed lymphocytes.
Fukao T; Kodama A; Aoyanagi N; Tsukino R; Uemura S; Song XQ; Watanebe H; Kuhara T; Matsumoto I; Orii T; Kondo N
Clin Genet; 1996 Oct; 50(4):263-6. PubMed ID: 9001814
[TBL] [Abstract][Full Text] [Related]
19. Inborn errors of isoleucine degradation: a review.
Korman SH
Mol Genet Metab; 2006 Dec; 89(4):289-99. PubMed ID: 16950638
[TBL] [Abstract][Full Text] [Related]
20. Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India.
Akella RR; Aoyama Y; Mori C; Lingappa L; Cariappa R; Fukao T
Brain Dev; 2014 Jun; 36(6):537-40. PubMed ID: 23958592
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]