257 related articles for article (PubMed ID: 30393371)
1. Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency.
Fukao T; Sasai H; Aoyama Y; Otsuka H; Ago Y; Matsumoto H; Abdelkreem E
J Hum Genet; 2019 Feb; 64(2):99-111. PubMed ID: 30393371
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. 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]
5. 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]
6. 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]
7. Siblings with mitochondrial acetoacetyl-CoA thiolase deficiency not identified by newborn screening.
Sarafoglou K; Matern D; Redlinger-Grosse K; Bentler K; Gaviglio A; Harding CO; Rinaldo P
Pediatrics; 2011 Jul; 128(1):e246-50. PubMed ID: 21669895
[TBL] [Abstract][Full Text] [Related]
8. The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.
Catanzano F; Ombrone D; Di Stefano C; Rossi A; Nosari N; Scolamiero E; Tandurella I; Frisso G; Parenti G; Ruoppolo M; Andria G; Salvatore F
J Inherit Metab Dis; 2010 Dec; 33 Suppl 3(Suppl 3):S91-4. PubMed ID: 20157782
[TBL] [Abstract][Full Text] [Related]
9. 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; 56(1):60-4. PubMed ID: 15128923
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Abdelkreem E; Harijan RK; Yamaguchi S; Wierenga RK; Fukao T
Hum Mutat; 2019 Oct; 40(10):1641-1663. PubMed ID: 31268215
[TBL] [Abstract][Full Text] [Related]
12. The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients.
Fukao T; Scriver CR; Kondo N;
Mol Genet Metab; 2001 Feb; 72(2):109-14. PubMed ID: 11161836
[TBL] [Abstract][Full Text] [Related]
13. Beta-ketothiolase deficiency brought with lethargy: case report.
Arica V; Arica SG; Dag H; Onur H; Obut O; Gülbayzar S
Hum Exp Toxicol; 2011 Oct; 30(10):1724-7. PubMed ID: 21247997
[TBL] [Abstract][Full Text] [Related]
14. Biochemical and immunochemical study of seven families with 3-ketothiolase deficiency: diagnosis of heterozygotes using immunochemical determination of the ratio of mitochondrial acetoacetyl-CoA thiolase and 3-ketoacyl-CoA thiolase proteins.
Yamaguchi S; Sakai A; Fukao T; Wakazono A; Kuwahara T; Orii T; Hashimoto T
Pediatr Res; 1993 May; 33(5):429-32. PubMed ID: 8099727
[TBL] [Abstract][Full Text] [Related]
15. Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency: an inborn error of isoleucine and ketone body metabolism.
Søvik O
J Inherit Metab Dis; 1993; 16(1):46-54. PubMed ID: 8487503
[TBL] [Abstract][Full Text] [Related]
16. 2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways.
Grünert SC; Sass JO
Orphanet J Rare Dis; 2020 Apr; 15(1):106. PubMed ID: 32345314
[TBL] [Abstract][Full Text] [Related]
17. Molecular basis of beta-ketothiolase deficiency: mutations and polymorphisms in the human mitochondrial acetoacetyl-coenzyme A thiolase gene.
Fukao T; Yamaguchi S; Orii T; Hashimoto T
Hum Mutat; 1995; 5(2):113-20. PubMed ID: 7749408
[TBL] [Abstract][Full Text] [Related]
18. Characterization and outcome of 41 patients with beta-ketothiolase deficiency: 10 years' experience of a medical center in northern Vietnam.
Nguyen KN; Abdelkreem E; Colombo R; Hasegawa Y; Can NT; Bui TP; Le HT; Tran MT; Nguyen HT; Trinh HT; Aoyama Y; Sasai H; Yamaguchi S; Fukao T; Vu DC
J Inherit Metab Dis; 2017 May; 40(3):395-401. PubMed ID: 28220263
[TBL] [Abstract][Full Text] [Related]
19. [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]
20. Mitochondrial acetoacetyl-CoA thiolase enzyme deficiency in a 9-month old boy: Atypical urinary metabolic profile with a novel homozygous mutation in ACAT1 gene.
Sundaram S; Nair M; Namboodhiri S; Menon RN
Neurol India; 2018; 66(6):1802-1804. PubMed ID: 30504584
[No Abstract] [Full Text] [Related]
[Next] [New Search]