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Holocarboxylase synthetase deficiency: report of one case.

Acta paediatrica Taiwanica = Taiwan er ke yi xue hui za zhi - 1 Jan 2000

Chou I-Ching, Wang Chung-Shing, Lin Wei-Der, Lin Hsin-Chen, Tsai Chang-Hai, Wang Tso-Ren, Tsai Fuu-Jen

Abstract excerpt

Holocarboxylase synthetase (HCS) is an enzyme that catalyzes biotin incorporation into carboxylases, and its deficiency causes biotin-responsive multiple carboxylase deficiency. We report a patient who had his first episode at 32 months of age. The main clinical findings were a characteristic ras...

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PMID: 17407983

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17407983-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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