115 related articles for article (PubMed ID: 12762227)
1. [Molecular studies on inborn errors of ketone body metabolism].
Fukao T
Seikagaku; 2003 Apr; 75(4):293-7. PubMed ID: 12762227
[No Abstract] [Full Text] [Related]
2. [Mitochondrial acetoacetyl-CoA thiolase deficiency].
Fukao T
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):310-3. PubMed ID: 9590054
[No Abstract] [Full Text] [Related]
3. Characterization of N93S, I312T, and A333P missense mutations in two Japanese families with mitochondrial acetoacetyl-CoA thiolase deficiency.
Fukao T; Nakamura H; Song XQ; Nakamura K; Orii KE; Kohno Y; Kano M; Yamaguchi S; Hashimoto T; Orii T; Kondo N
Hum Mutat; 1998; 12(4):245-54. PubMed ID: 9744475
[TBL] [Abstract][Full Text] [Related]
4. Two novel mutations in mitochondrial acetoacetyl-CoA thiolase deficiency.
Mrázová L; Fukao T; Hálovd K; Gregová E; Kohút V; Pribyl D; Chrastina P; Kondo N; Pospisilová E
J Inherit Metab Dis; 2005; 28(2):235-6. PubMed ID: 15877211
[TBL] [Abstract][Full Text] [Related]
5. [Cytosolic acetoacetyl-CoA thiolase deficiency].
Song XQ; Fukao T
Ryoikibetsu Shokogun Shirizu; 1998; (18 Pt 1):359-61. PubMed ID: 9590069
[No Abstract] [Full Text] [Related]
6. Disorders of ketone production and utilization.
Kayer MA
Mol Genet Metab; 2006 Apr; 87(4):281-3. PubMed ID: 16622911
[No Abstract] [Full Text] [Related]
7. 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; 9(3):277-9. PubMed ID: 9090533
[No Abstract] [Full Text] [Related]
8. On the occurrence of enzymes of ketone-body metabolism in human adipose tissue.
Rous S
Biochem Biophys Res Commun; 1976 Mar; 69(1):74-8. PubMed ID: 4072
[No Abstract] [Full Text] [Related]
9. 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]
10. 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]
11. Inborn errors of ketogenesis.
Mitchell GA; Wang SP; Ashmarina L; Robert MF; Bouchard G; Laurin N; Kassovska-Bratinova S; Boukaftane Y
Biochem Soc Trans; 1998 May; 26(2):136-40. PubMed ID: 9649735
[No Abstract] [Full Text] [Related]
12. Inborn errors of ketogenesis and ketone body utilization.
Sass JO
J Inherit Metab Dis; 2012 Jan; 35(1):23-8. PubMed ID: 21479626
[TBL] [Abstract][Full Text] [Related]
13. Enzymes of ketone body utilization in human tissues: protein and messenger RNA levels of succinyl-coenzyme A (CoA):3-ketoacid CoA transferase and mitochondrial and cytosolic acetoacetyl-CoA thiolases.
Fukao T; Song XQ; Mitchell GA; Yamaguchi S; Sukegawa K; Orii T; Kondo N
Pediatr Res; 1997 Oct; 42(4):498-502. PubMed ID: 9380443
[TBL] [Abstract][Full Text] [Related]
14. Inborn errors of ketone body utilization.
Hori T; Yamaguchi S; Shinkaku H; Horikawa R; Shigematsu Y; Takayanagi M; Fukao T
Pediatr Int; 2015; 57(1):41-8. PubMed ID: 25559898
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Fukao T; Nguyen HT; Nguyen NT; Vu DC; Can NT; Pham AT; Nguyen KN; Kobayashi H; Hasegawa Y; Bui TP; Niezen-Koning KE; Wanders RJ; de Koning T; Nguyen LT; Yamaguchi S; Kondo N
Mol Genet Metab; 2010 May; 100(1):37-41. PubMed ID: 20156697
[TBL] [Abstract][Full Text] [Related]
17. Molecular insights into HSD10 disease: impact of SDR5C1 mutations on the human mitochondrial RNase P complex.
Vilardo E; Rossmanith W
Nucleic Acids Res; 2015 May; 43(10):5112-9. PubMed ID: 25925575
[TBL] [Abstract][Full Text] [Related]
18. [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]
19. 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients.
Grünert SC; Schlatter SM; Schmitt RN; Gemperle-Britschgi C; Mrázová L; Balcı MC; Bischof F; Çoker M; Das AM; Demirkol M; de Vries M; Gökçay G; Häberle J; Uçar SK; Lotz-Havla AS; Lücke T; Roland D; Rutsch F; Santer R; Schlune A; Staufner C; Schwab KO; Mitchell GA; Sass JO
Mol Genet Metab; 2017 Jul; 121(3):206-215. PubMed ID: 28583327
[TBL] [Abstract][Full Text] [Related]
20. Activation of liver carnitine palmitoyltransferase-1 and mitochondrial acetoacetyl-CoA thiolase is associated with elevated ketone body levels in the elasmobranch Squalus acanthias.
Treberg JR; Crockett EL; Driedzic WR
Physiol Biochem Zool; 2006; 79(5):899-908. PubMed ID: 16927236
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
