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Article

Recurrent pulmonary aspergillosis and mycobacterial infection in an unsplenectomized patient with type 1 Gaucher disease.

Upsala journal of medical sciences - 1 Mar 2014

Machaczka Maciej, Lorenz Fryderyk, Kleinotiene Grazina, Bulanda Agnieszka, Markuszewska-Kuczyńska Alicja, Raistenskis Juozas, Klimkowska Monika

Abstract excerpt

BACKGROUND: The clinical presentation of Gaucher disease (GD), an inherited lysosomal storage disorder caused by the deficient activity of the lysosomal enzyme glucocerebrosidase, is highly variable, and three clinical types are distinguished based upon the presence of neurologic symptoms. Thrombocytopenia, anemia, hepatosplenomegaly, and bone manifestations are the most typical signs of GD type 1 (GD1). CASE...

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Source

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Identifiers

PMID: 24195576
DOI: 10.3109/03009734.2013.857373
PMCID: PMC3916717

Genes

GBA1

Variants

Provenance

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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