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Items: 1 to 20 of 105

1.

Beta-ketothiolase deficiency and pregnancy.

Kayani R, Botros S, Moore P.

Int J Obstet Anesth. 2013 Jul;22(3):260-1. doi: 10.1016/j.ijoa.2013.03.006. Epub 2013 May 9. No abstract available.

PMID:
23664791
2.

beta-Ketothiolase (2-methylacetoacetyl-coenzyme A thiolase) deficiency: identification of two patients in Israel.

Gibson KM, Elpeleg ON, Bennett MJ.

J Inherit Metab Dis. 1996;19(5):698-9. No abstract available.

PMID:
8892029
3.

The peripartum management of a patient with glutaric aciduria type 1.

Ituk US, Allen TK, Habib AS.

J Clin Anesth. 2013 Mar;25(2):141-5. doi: 10.1016/j.jclinane.2012.06.023. Epub 2013 Jan 23.

PMID:
23352788
4.

Beta-ketothiolase deficiency. A case report.

Altintaş B, Teziç T, Coşkun T, Ozalp I, Kükner S, Kaya A.

Turk J Pediatr. 1992 Jan-Mar;34(1):43-6. Review.

PMID:
1509529
5.

[Ketoacidotic coma in an infant as the form of onset of a mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency].

Yeste Fernández D, Castelló Girona F, Mora Graupera J, Riudor Taravila E, Arranz Amo J, Ribes Rubió A, Pérez Cerdá C.

An Esp Pediatr. 1996 Jun;44(6):620-2. Review. Spanish. No abstract available.

PMID:
8849116
6.

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. doi: 10.1016/j.braindev.2013.07.007. Epub 2013 Aug 16.

PMID:
23958592
7.

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. doi: 10.1007/s10545-014-9704-9. Epub 2014 Apr 8. Review.

PMID:
24706027
8.

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. doi: 10.1177/0960327110396533. Epub 2011 Jan 19.

PMID:
21247997
9.
10.
11.

Ultrasound-guided combined spinal-epidural anaesthesia for elective caesarean section in a patient with achondroplasia.

Wight JM, Male D, Combeer A.

Int J Obstet Anesth. 2013 Apr;22(2):168-9. doi: 10.1016/j.ijoa.2013.01.007. Epub 2013 Mar 7. No abstract available.

PMID:
23473550
12.

Mitochondrial acetoacetyl-coenzyme A thiolase gene: a novel 68-bp deletion involving 3' splice site of intron 7, causing exon 8 skipping in a Caucasian patient with beta-ketothiolase deficiency.

Fukao T, Song XQ, Yamaguchi S, Orii T, Wanders RJ, Poll-The BT, Hashimoto T.

Hum Mutat. 1995;5(1):94-6. No abstract available.

PMID:
7728155
14.
15.

[A case of beta-ketothiolase deficiency].

Zhan JY, Liang L, Dong GP.

Zhonghua Er Ke Za Zhi. 2006 Sep;44(9):703-4. Chinese. No abstract available.

PMID:
17217670
16.

A treatable new cause of chorea: beta-ketothiolase deficiency.

Buhaş D, Bernard G, Fukao T, Décarie JC, Chouinard S, Mitchell GA.

Mov Disord. 2013 Jul;28(8):1054-6. doi: 10.1002/mds.25538. Epub 2013 Jul 1. No abstract available.

PMID:
23818432
17.

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

Monastiri K, Amri F, Limam K, Kaabachi N, Guediche MN.

J Inherit Metab Dis. 1999 Dec;22(8):932-3. No abstract available.

PMID:
10604145
18.

Caesarean section in a parturient with a spinal cord stimulator.

Sommerfield D, Hu P, O'Keeffe D, McKeating A K.

Int J Obstet Anesth. 2010 Jan;19(1):114-7. doi: 10.1016/j.ijoa.2009.08.006. Epub 2009 Nov 28.

PMID:
19945842
19.

[Analysis of clinical phenotype and ACAT1 gene mutation in a family affected with beta-ketothiolase deficiency].

Wen P, Chen Z, Wang G, Su Z, Zhang X, Tang G, Cui D, Liu X, Li C.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016 Jun;33(3):286-91. doi: 10.3760/cma.j.issn.1003-9406.2016.03.002. Chinese.

PMID:
27264805
20.

Molecular basis of 3-ketothiolase deficiency.

Fukao T, Yamaguchi S, Kano M, Orii T, Osumi T, Hashimoto T.

Prog Clin Biol Res. 1992;375:573-81. No abstract available.

PMID:
1438401
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