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Article

Pulmonary hypertension in type 1 Gaucher's disease: genetic and epigenetic determinants of phenotype and response to therapy.

Molecular genetics and metabolism - 1 Jan 2000

Mistry Pramod K, Sirrs Sandra, Chan Alicia, Pritzker Mark R, Duffy Thomas P, Grace Marie E, Meeker David P, Goldman Martin E

Abstract excerpt

Type 1 Gaucher's disease (GD) is recognized for striking but unexplained phenotypic diversity. Rarely, severe pulmonary hypertension (PH) may occur in GD but its clinical spectrum, determinants or its response to enzyme replacement therapy (ERT)+/-vasodilators is not known. One hundred and thirty-four consecutive patients with Type 1 GD were screened to estimate right ventricular systolic pressure (RVSP) by...

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Source

Identifiers

PMID: 12359135
DOI: 10.1016/s1096-7192(02)00122-1

Genes

ACE

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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