PubMed (cited) for id: 203750

Year	Number of Results
1971	1
1973	1
1974	2
1980	1
1981	1
1983	1
1986	1
1988	1
1990	1
1991	1
1992	1
1993	1
1998	1
1999	1
2005	1
2007	1
2017	1
2024	0

1

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. Grünert SC, et al. Mol Genet Metab. 2017 Sep;122(1-2):67-75. doi: 10.1016/j.ymgme.2017.06.012. Epub 2017 Jun 27. Mol Genet Metab. 2017. PMID: 28689740

2

Kinetic and expression analyses of seven novel mutations in mitochondrial acetoacetyl-CoA thiolase (T2): identification of a Km mutant and an analysis of the mutational sites in the structure.

Sakurai S, Fukao T, Haapalainen AM, Zhang G, Yamada K, Lilliu F, Yano S, Robinson P, Gibson MK, Wanders RJ, Mitchell GA, Wierenga RK, Kondo N. Sakurai S, et al. Mol Genet Metab. 2007 Apr;90(4):370-8. doi: 10.1016/j.ymgme.2006.12.002. Epub 2007 Jan 22. Mol Genet Metab. 2007. PMID: 17236799

3

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. Mrázová L, et al. J Inherit Metab Dis. 2005;28(2):235-6. doi: 10.1007/s10545-005-7497-6. J Inherit Metab Dis. 2005. PMID: 15877211

4

beta-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: a frequent disease in Tunisia?

Monastiri K, Amri F, Limam K, Kaabachi N, Guediche MN. Monastiri K, et al. J Inherit Metab Dis. 1999 Dec;22(8):932-3. doi: 10.1023/a:1005695524913. J Inherit Metab Dis. 1999. PMID: 10604145 No abstract available.

5

Mitochondrial acetoacetyl-CoA thiolase (beta-ketothiolase) deficiency and pregnancy.

Sewell AC, Herwig J, Wiegratz I, Lehnert W, Niederhoff H, Song XQ, Kondo N, Fukao T. Sewell AC, et al. J Inherit Metab Dis. 1998 Jun;21(4):441-2. doi: 10.1023/a:1005335515166. J Inherit Metab Dis. 1998. PMID: 9700610 No abstract available.

6

Molecular studies of mitochondrial acetoacetyl-coenzyme A thiolase deficiency in the two original families.

Fukao T, Yamaguchi S, Scriver CR, Dunbar G, Wakazono A, Kano M, Orii T, Hashimoto T. Fukao T, et al. Hum Mutat. 1993;2(3):214-20. doi: 10.1002/humu.1380020310. Hum Mutat. 1993. PMID: 8103405

7

Congestive cardiomyopathy associated with beta-ketothiolase deficiency.

Henry CG, Strauss AW, Keating JP, Hillman RE. Henry CG, et al. J Pediatr. 1981 Nov;99(5):754-7. doi: 10.1016/s0022-3476(81)80404-0. J Pediatr. 1981. PMID: 7299555 No abstract available.

8

An introduction to gas chromatography-mass spectrometry and the inherited organic acidemias.

Goodman SI. Goodman SI. Am J Hum Genet. 1980 Nov;32(6):781-92. Am J Hum Genet. 1980. PMID: 7004178 Free PMC article. Review. No abstract available.

9

A case of beta-ketothiolase deficiency.

Bennett MJ, Littlewood JM, MacDonald A, Pollitt RJ, Thompson J. Bennett MJ, et al. J Inherit Metab Dis. 1983;6(4):157. doi: 10.1007/BF02310871. J Inherit Metab Dis. 1983. PMID: 6422156 No abstract available.

10

Beta-ketothiolase deficiency as a cause of the "ketotic hyperglycinemia syndrome".

Hillman RE, Keating JP. Hillman RE, et al. Pediatrics. 1974 Feb;53(2):221-5. Pediatrics. 1974. PMID: 4812006 No abstract available.

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