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4 resultsUpdated October 20, 2026
2

NMR-based urinalysis for beta-ketothiolase deficiency

Clinica Chimica Acta 438 (2015)

Chun-Yiu Law; Ching-Wan Lam; Chor-kwan Ching; Kin-Cheong Eric Yau; Tsz-wai Ho; Chi-kong Lai; Chloe Miu Mak

3

Beta-Ketothiolase Deficiency Presenting with Metabolic Stroke After a Normal Newborn Screen in Two Individuals

JIMD Reports (2017)

Monica H. Wojcik; Klaas J. Wierenga; Lance H. Rodan; Inderneel Sahai; Sacha Ferdinandusse; Casie A. Genetti; Meghan C. Towne; Roy W. A. Peake; Philip M. James; Alan H. Beggs; Catherine A. Brownstein; Gerard T. Berry; Pankaj B. Agrawal