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Article

Type 2 Gaucher disease: the collodion baby phenotype revisited.

Archives of disease in childhood. Fetal and neonatal edition - 1 Mar 2000

Stone D L, Carey W F, Christodoulou J, Sillence D, Nelson P, Callahan M, Tayebi N, Sidransky E

Abstract excerpt

The association of Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase (EC 3.2.1.45), and congenital ichthyosis was first noted a decade ago. Subsequently, a null allele type 2 Gaucher mouse was generated that also exhibited ichthyotic skin, confirming that the skin disorder and enzyme deficiency were directly related. This paper details the clinical and molecular characterisation of 6 cases...

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Source

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Identifiers

PMID: 10685993
DOI: 10.1136/fn.82.2.f163
PMCID: PMC1721053

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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