Associated Papers
C4OH is a potential newborn screening marker-a multicenter retrospective study of patients with beta-ketothiolase deficiency in China.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Mutation update on ACAT1 variants associated with mitochondrial acetoacetyl-CoA thiolase (T2) deficiency.
Abdelkreem E et al.
Human Mutation, 2019
NMR-based urinalysis for beta-ketothiolase deficiency.
Law CY et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2015
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