| 1 |
35273875 | Unexplained Tachypneoa and Severe Metabolic Acidosis in a Three-Month-Old Child: A Rare Presentation of Beta-Ketothiolose Deficiency. | 2022 Feb |
1 |
| 2 |
34001203 | C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China. | 2021 May 17 |
1 |
| 3 |
31228515 | The recent insights into the function of ACAT1: A possible anti-cancer therapeutic target. | 2019 Sep 1 |
1 |
| 4 |
28875337 | Clinical and molecular analysis of 6 Chinese patients with isoleucine metabolism defects: identification of 3 novel mutations in the HSD17B10 and ACAT1 gene. | 2017 Dec |
2 |
| 5 |
20156697 | A common mutation, R208X, identified in Vietnamese patients with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency. | 2010 May |
1 |
| 6 |
17236799 | 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. | 2007 Apr |
1 |
| 7 |
15128923 | 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. | 2004 Jul |
1 |
| 8 |
14518824 | 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. | 2003 |
1 |
| 9 |
11914035 | Characterization of six mutations in five Spanish patients with mitochondrial acetoacetyl-CoA thiolase deficiency: effects of amino acid substitutions on tertiary structure. | 2002 Mar |
1 |
| 10 |
11161836 | The clinical phenotype and outcome of mitochondrial acetoacetyl-CoA thiolase deficiency (beta-ketothiolase or T2 deficiency) in 26 enzymatically proved and mutation-defined patients. | 2001 Feb |
1 |
| 11 |
9001814 | 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. | 1996 Oct |
1 |