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BiomedicinesGaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impact on the different life stages of women with this disease. Among other alterations, a delay in menarche
Maria del Mar Meijon-Ortigueira +10 more
openaire +12 more sources
European Journal of Neurology, Volume 33, Issue 6, June 2026.In patients who continued ERT during pregnancy, it appeared to be safe, with no documented adverse effects for mother or child. While most patients experienced a mild worsening of clinical condition during pregnancy, the majority recovered well postpartum.
Maudy T. M. Theunissen +11 more
wiley +1 more source
Gaucher Disease: an underdiagnosed disorder
, 2011 OBJECTIVE: Gaucher disease is an inborn error of metabolism, clinically heterogeneous, whose prognosis may vary according to the presentation subtype.
Camila Simões Ferreira +14 more
core +1 more source
Medical Literature in the Age of Artificial Intelligence
iNew Medicine, Volume 2, Issue 2, June 2026.
Hunter Scott
wiley +1 more source
Pathology of Gaucher's disease.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 1974 A review of the pathology of t 2 cases of non-neuronopathic type Gaucher's disease, diagnosed over a 38-year period, t 935 to 1973, is presented. One of these patients is described in detail and an unusual association with a splenic epidermoid cyst in an unaffected sibling is documented.
openaire +3 more sources
Glucosylsphingosine affects mitochondrial function in a neuronal cell model
Communications BiologyGaucher disease arises from mutations in glucocerebrosidase resulting in accumulation of glucosylceramide, which is deacylated to glucosylsphingosine.
Valeria Nikolaenko +6 more
doaj +1 more source
Gaucher Disease: A First Reported Adult Case in Indonesia
Acta Medica IndonesianaA 44-year-old female presented with a distended abdomen and fatigue. On physical examination, prominent splenomegaly was found. The laboratory investigations revealed pancytopenia and decreased albumin-globulin ratio.
Ardhi Rahman Ahani +6 more
doaj +2 more sources
Spanish consensus on managing pregnancy in women with Gaucher disease
Orphanet Journal of Rare DiseasesGaucher disease can have effects on the development of pregnancy, childbirth, and lactation, with impact on health of both the mother and the newborn.
Enrique J. Calderón +9 more
doaj +1 more source