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Article

Type II Gaucher disease: compound heterozygote with RecNciI and L444P mutations.

Journal of tropical pediatrics - 1 Apr 2001

Lee Y S, Poh L K, Ida H, Loke K Y

Abstract excerpt

We report the phenotype and genotype of an Indonesian Chinese boy with type II Gaucher disease. He had a unique presentation of recurrent cyanosis from laryngospasm. He was compound heterozygous for L444P/L444P + A456P + V460V. There have been few reports of this heterozygosity and its phenoptype...

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PMID: 11336129
DOI: 10.1093/tropej/47.2.110-a

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-11336129-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

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