Beta-Ketothiolase Deficiency Latest Advances
Find the Latest Research About Beta-Ketothiolase Deficiency
Last Updated: 02/24/2026
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Found 37 publications
Is Beta Ketothiolase Deficiency an Uncommon Disease or an Unsuspected Diagnosis? The Role of Genetic Biochemistry Approaches in Metabolic Acidosis.
Journal: Pediatric reports
Published: August 04, 2025
Molecular characterization, clinical phenotype, and neurological outcome of twelve Palestinian children with beta-ketothiolase deficiency: report of two novel variants in the ACAT1 gene.
Journal: BMC medical genomics
Published: March 07, 2025
Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: April 29, 2024
Clinical features and genetic analysis of three children with β-ketothiolase deficiency
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 06, 2024
Clinical phenotypic and genotypic analysis of 5 pediatric patients with β-ketothiolase deficiency
Journal: Zhonghua er ke za zhi = Chinese journal of pediatrics
Published: December 28, 2023
Identification of two novel ACAT1 variant associated with beta-ketothiolase deficiency in a 9-month-old boy.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: March 28, 2022
Analysis of ACAT1 gene variants in a patient with β-ketothiolase deficiency
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 10, 2021
C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.
Journal: Orphanet journal of rare diseases
Published: December 11, 2020
Emergent treatment using glucose/insulin infusing for ketoacidosis in T2 deficiency.
Journal: Pediatrics international : official journal of the Japan Pediatric Society
Published: April 10, 2020
Beta-ketothiolase deficiency in a Malaysian infant.
Journal: The Medical journal of Malaysia
Published: May 13, 2019
Abnormal Ketone Bodies in a 22-Month-Old Boy Presenting with Recurrent Vomiting and Metabolic Acidosis.
Journal: Clinical chemistry
Published: April 26, 2019
Retrospective analysis on clinical data and genetic variations of patients with beta-ketothiolase deficiency
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: March 06, 2019
Last Updated: 02/24/2026