Diagnosis, treatment, and follow-up of a case of Wolman disease with hemophagocytic lymphohistiocytosis

Author:

Baronio Federico,Conti Francesca,Miniaci Angela,Carfagnini Filomena,Di Natale Valeria,Di Donato Giulio,Testi Matthias,Totaro Camilla,De Fanti Alessandro,Boenzi Sara,Dionisi-Vici Carlo,Esposito Susanna,Pession Andrea

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference21 articles.

1. Lysosomal acid lipase deficiencies: the Wolman disease/cholesterol ester storage disease spectrum. The Online Metabolic & Molecular Bases of Inherited Disease;Grabowski,2021

2. Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism;Boenzi;J. Lipid Res.,2016

3. A novel mutation c.153 C>a in a tunisian girl with wolman disease and unusual presentation: hemophagocytic lymphohistiocytosis;Tinsa;J. Pediatr. Hematol. Oncol.,2019

4. Wolman’s disease: the King Faisal Specialist Hospital and Research Centre experience;Al Essa;Ann Saudi Med.,1998

5. Primary adrenal insufficiency in children: twenty years experience at the Sainte-Justine Hospital, Montreal;Perry;J. Clin. Endocrinol. Metab.,2005

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