French national diagnosis and care protocol (Protocole National De Diagnostic et de Soins; PNDS): Gaucher disease

Abstract Gaucher disease (GD) is a rare autosomal recessive lysosomal disorder caused by glucocerebrosidase deficiency, with a prevalence in France of around 1/130,000 people. The clinical picture of GD is very heterogeneous, ranging from lifelong asymptomatic forms to severe forms with onset during...

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Bibliografiset tiedot
Päätekijät: Fabrice Camou, Christine Serratrice, Magali Pettazzoni, Yann Nadjar, Anaïs Brassier, Soumeya Bekri, Bérengère Cador-Rousseau, Louis Dagneaux, Florence Dalbies, Roseline Froissart, Delphine Genevaz, Anne-Sophie Guemann, Bénédicte Hivert, Vanessa Leguy-Seguin, Catherine Marcel, Agathe Masseau, Martin Michaud, Yves-Marie Pers, Jérôme Stirnemann, Sabrina Vergnaud, Yann Nguyen, Catherine Caillaud, Samia Pichard, Marc G. Berger, Nadia Belmatoug
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: BMC 2025-10-01
Sarja:Orphanet Journal of Rare Diseases
Aiheet:
Gaucher disease
Glucocerebrosidase deficiency
Enzyme replacement therapy
Substrate reduction therapy
Diagnosis
Monitoring
Linkit:https://doi.org/10.1186/s13023-025-03980-1
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