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Items: 1 to 20 of 110

1.

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. doi: 10.1542/peds.2010-3918. Epub 2011 Jun 13.

PMID:
21669895
2.
3.

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. Epub 2004 May 5.

PMID:
15128923
4.

Biochemical profiling in two siblings with mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency.

Ngu LH, Zabedah MY, Shanti B, Teh SH.

Malays J Pathol. 2008 Dec;30(2):109-14.

5.

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.

PMID:
14518824
6.
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:S91-4. doi: 10.1007/s10545-009-9028-3. Epub 2010 Feb 16.

PMID:
20157782
9.
10.

Diagnosis of very long chain acyl-dehydrogenase deficiency from an infant's newborn screening card.

Wood JC, Magera MJ, Rinaldo P, Seashore MR, Strauss AW, Friedman A.

Pediatrics. 2001 Jul;108(1):E19.

PMID:
11433098
11.
12.

[Mitochondrial 2-methylacetoacetyl-CoA thiolase deficiency in Argentina].

de Kremer RD, de Boldini CD, Kelley RI, Civallero GE.

Medicina (B Aires). 1997;57(1):52-8. Spanish.

PMID:
9435370
13.

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
14.

Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure.

Fukao T, Nakamura H, Nakamura K, Perez-Cerda C, Baldellou A, Barrionuevo CR, Castello FG, Kohno Y, Ugarte M, Kondo N.

Mol Genet Metab. 2002 Mar;75(3):235-43.

PMID:
11914035
15.

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.

Tohoku J Exp Med. 2010 Jan;220(1):27-31.

16.

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.

JIMD Rep. 2012;3:107-15. doi: 10.1007/8904_2011_72. Epub 2011 Sep 6.

17.

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
18.
19.

An unusual cause of interference in a salicylate assay caused by mitochondrial acetoacetyl-CoA thiolase deficiency.

Tilbrook LK, Slater J, Agarwal A, Cyriac J.

Ann Clin Biochem. 2008 Sep;45(Pt 5):524-6. doi: 10.1258/acb.2008.007202.

20.

Development of MLPA for human ACAT1 gene and identification of a heterozygous Alu-mediated deletion of exons 3 and 4 in a patient with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.

Fukao T, Aoyama Y, Murase K, Hori T, Harijan RK, Wierenga RK, Boneh A, Kondo N.

Mol Genet Metab. 2013 Sep-Oct;110(1-2):184-7. doi: 10.1016/j.ymgme.2013.07.004. Epub 2013 Jul 14.

PMID:
23920042
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