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Article

Disease severity in sibling pairs with type 1 Gaucher disease.

Journal of inherited metabolic disease - 1 Feb 2010

Elstein Deborah, Gellman Ayelet, Altarescu Gheona, Abrahamov Aya, Hadas-Halpern Irith, Phillips Mici, Margalit Maya, Lebel Ehud, Itzchaki Menachem, Zimran Ari

Abstract excerpt

The only prognostic markers in Gaucher disease, the most common lysosomal storage disorder, are young age at first symptom/sign and the presence of null/severe mutations, both being predictive of more severe phenotypes. Therefore, it would be helpful to know whether siblings with the same genotyp...

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PMID: 20049528
DOI: 10.1007/s10545-009-9024-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-20049528-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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