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Case Report: Two Siblings with Very Late Onset of Holocarboxylase Synthase Deficiency and a Mini-Review

Margaux Gaschignard, Louis Domenach,Delphine Lamireau,Claire Guibet,Sandrine Roche,Emmanuel Richard,Isabelle Redonnet-Vernhet,Samir Mesli,Louis Lebreton

FRONTIERS IN GENETICS（2024）

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Key words
inherited metabolic disease,holocarboxylase synthase deficiency,late onset,acidose m & eacute,tabolique,biotin
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