⌘+K

Pulse Explore Clubs Researchers Journals

Home Clubs Explore

March 10, 2024

[Clinical features and genetic analysis of three children with β-ketothiolase deficiency].

Xue Wu Yuan Li Qiong Chen Shengnan Wu Chang Su Dongxiao Li Chuming Chen Haiyan Wei

View Full Paper

Ask AI

Bookmark

Share

Abstract

To explore the clinical features and genetic variants in three children suspected for β-ketothiolase deficiency (BKTD).

Discussion

No takes yet. Share an insight, caveat, or question.

Cite This Study

Wu et al. (2024) studied this question.

synapsesocial.com/papers/68e74cd0b6db6435876c542e https://doi.org/10.3760/cma.j.cn511374-20221109-00775

View Full Paper

Ask AI

Bookmark

Share

Keep reading

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Analysis of the clinical phenotype and genotype features of 5 cases of beta-ketothiolase deficiencyOriginal Research · 2026
2Ketone metabolism defects in childhood: a spectrum of overlapping presentations and clinical featuresRetrospective Study · 2026
3Beta-ketothiolase deficiency with progressive basal ganglia and extra basal ganglia involvement: CT–MRI correlation in a pediatric metabolic encephalopathy: A case reportCase Report · 2026
4[Clinical analysis and genetic diagnosis of three children with Isoleucine metabolic disorders due to variants of HSD17B10 and ACAT1 genes].2024 · 1 citations
5[Analysis of clinical features and genetic variants in three children with late-onset Multiple acyl-Coenzyme A dehydrogenase deficiency].2024