Similar articles for PMID: 31240151

Year	Number of Results
1979	1
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2021	1
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2023	3
2024	0

1

Beta-ketothiolase deficiency: A case with unusual presentation of nonketotic hypoglycemic episodes due to coexistent probable secondary carnitine deficiency.

Alijanpour M, Sasai H, Abdelkreem E, Ago Y, Soleimani S, Moslemi L, Yamaguchi S, Rezapour M, Hakimi MT, Matsumoto H, Fukao T. Alijanpour M, et al. JIMD Rep. 2019 Mar 14;46(1):23-27. doi: 10.1002/jmd2.12022. eCollection 2019 Mar. JIMD Rep. 2019. PMID: 31240151 Free PMC article.

2

Metabolic encephalopathy in beta-ketothiolase deficiency: the first report from India.

Akella RR, Aoyama Y, Mori C, Lingappa L, Cariappa R, Fukao T. Akella RR, et al. Brain Dev. 2014 Jun;36(6):537-40. doi: 10.1016/j.braindev.2013.07.007. Epub 2013 Aug 16. Brain Dev. 2014. PMID: 23958592

3

Unexplained Tachypneoa and Severe Metabolic Acidosis in a Three-Month-Old Child: A Rare Presentation of Beta-Ketothiolose Deficiency.

Thadchanamoorthy V, Dayasiri K. Thadchanamoorthy V, et al. Cureus. 2022 Feb 5;14(2):e21934. doi: 10.7759/cureus.21934. eCollection 2022 Feb. Cureus. 2022. PMID: 35273875 Free PMC article.

4

Three Japanese Patients with Beta-Ketothiolase Deficiency Who Share a Mutation, c.431A>C (H144P) in ACAT1 : Subtle Abnormality in Urinary Organic Acid Analysis and Blood Acylcarnitine Analysis Using Tandem Mass Spectrometry.

Fukao T, Maruyama S, Ohura T, Hasegawa Y, Toyoshima M, Haapalainen AM, Kuwada N, Imamura M, Yuasa I, Wierenga RK, Yamaguchi S, Kondo N. Fukao T, et al. JIMD Rep. 2012;3:107-15. doi: 10.1007/8904_2011_72. Epub 2011 Sep 6. JIMD Rep. 2012. PMID: 23430882 Free PMC article.

5

Ketoacidotic crisis after vaccination in a girl with beta-ketothiolase deficiency: a case report.

Mao S, Yang L, Yin X, Yang J, Huang X. Mao S, et al. Transl Pediatr. 2021 Feb;10(2):459-463. doi: 10.21037/tp-20-265. Transl Pediatr. 2021. PMID: 33708533 Free PMC article.

6

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. Fukao T, et al. J Hum Genet. 2019 Feb;64(2):99-111. doi: 10.1038/s10038-018-0524-x. Epub 2018 Nov 5. J Hum Genet. 2019. PMID: 30393371 Review.

7

Clinical and Mutational Characterizations of Ten Indian Patients with Beta-Ketothiolase Deficiency.

Abdelkreem E, Akella RRD, Dave U, Sane S, Otsuka H, Sasai H, Aoyama Y, Nakama M, Ohnishi H, Mahmoud S, Abd El Aal M, Fukao T. Abdelkreem E, et al. JIMD Rep. 2017;35:59-65. doi: 10.1007/8904_2016_26. Epub 2016 Dec 8. JIMD Rep. 2017. PMID: 27928777 Free PMC article.

8

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. Paquay S, et al. J Inherit Metab Dis. 2017 May;40(3):415-422. doi: 10.1007/s10545-017-0021-y. Epub 2017 Mar 2. J Inherit Metab Dis. 2017. PMID: 28255778

9

Different clinical presentation in siblings with mitochondrial acetoacetyl-CoA thiolase deficiency and identification of two novel mutations.

Thümmler S, Dupont D, Acquaviva C, Fukao T, de Ricaud D. Thümmler S, et al. Tohoku J Exp Med. 2010 Jan;220(1):27-31. doi: 10.1620/tjem.220.27. Tohoku J Exp Med. 2010. PMID: 20046049 Free article.

10

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; t2 Collaborative Working Group. Fukao T, et al. Mol Genet Metab. 2001 Feb;72(2):109-14. doi: 10.1006/mgme.2000.3113. Mol Genet Metab. 2001. PMID: 11161836

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