Results 1 to 10 of about 2,438 (157)

CT features of Wolman disease (lysosomal acid lipase enzyme deficiency) – A case report [PDF]

Radiology Case Reports, 2021
Wolman disease is a lethal rare autosomal recessive disorder defined by the deficiency of acid lipase enzyme. The disease is a lysosomal storage disease. Multiple organs such as adrenal glands, liver, spleen, bone marrow, small bowel loops, and abdominal
Naqibullah Foladi, MD, Mohammad Tahir Aien, MD   +1 more
doaj   +4 more sources

Novel association of metastatic Crohn's disease and Wolman disease [PDF]

JAAD Case Reports, 2022
Amal AlAsmari, MD, Reema AlEssa, MD, Waleed AlAjroush, MD, FRCPC, FAAD, Rayan AlKhodair, MD, FRCPC, FAAD, Sukainah AlHaddad, MD   +4 more
doaj   +4 more sources

Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature  [PDF]

Journal of Medical Case Reports, 2023
Background Wolman disease is a rare disease caused by the absence of functional liposomal acid lipase due to mutations in LIPA gene. It presents with organomegaly, malabsorption, and adrenal calcifications.
Kosar Asna Ashari, Aileen Azari-Yam, Mohammad Shahrooei, Vahid Ziaee   +3 more
doaj   +2 more sources

Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Wolman disease is a rare, lysosomal storage disorder in which biallelic variants in the LIPA gene result in reduced or complete lack of lysosomal acid lipase.
Jane E. Potter, Gemma Petts, Arunabha Ghosh, Fiona J. White, Jane L. Kinsella, Stephen Hughes, Jane Roberts, Adam Hodgkinson, Kathryn Brammeier, Heather Church, Christine Merrigan, Joanne Hughes, Pamela Evans, Helen Campbell, Denise Bonney, William G. Newman, Brian W. Bigger, Alexander Broomfield, Simon A. Jones, Robert F. Wynn   +19 more
doaj   +2 more sources

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

Molecular Genetics and Metabolism Reports, 2022
Wolman Disease (WD) is a severe multi-system metabolic disease due to lysosomal acid lipase (LAL) deficiency. We report on a WD infant who developed an unusual hemophagocytic lymphohistiocytosis (HLH) phenotype related to WD treated with sebelipase alfa.
Federico Baronio, Francesca Conti, Angela Miniaci, Filomena Carfagnini, Valeria Di Natale, Giulio Di Donato, Matthias Testi, Camilla Totaro, Alessandro De Fanti, Sara Boenzi, Carlo Dionisi-Vici, Susanna Esposito, Andrea Pession   +12 more
doaj   +2 more sources

Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics [PDF]

Orphanet Journal of Rare Diseases, 2017
Background Wolman disease (WD) is a rare lysosomal storage disorder that is caused by mutations in the LIPA gene encoding lysosomal acid lipase (LAL).
Francis Aguisanda, Charles D. Yeh, Catherine Z. Chen, Rong Li, Jeanette Beers, Jizhong Zou, Natasha Thorne, Wei Zheng   +7 more
doaj   +2 more sources

Case Report: Wolman disease caused by LIPA variants in two Chinese infants and a focused literature synthesis [PDF]

Frontiers in Pediatrics
BackgroundWolman disease is the severe infantile form of lysosomal acid lipase deficiency, caused by biallelic pathogenic variants in the Lysosomal Acid Lipase (LIPA) gene.
Leping Zhang, Qiong Yu, Xinjing Ge, Xinbao Xie   +3 more
doaj   +2 more sources

Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up [PDF]

Orphanet Journal of Rare Diseases, 2021
Background Wolman disease (WD), the rapidly progressive phenotype of lysosomal acid lipase (LAL) deficiency, presents in neonates with failure to thrive and hepatosplenomegaly, and leads to multi-organ failure and death before 12 months of age.
Tanguy Demaret, Florence Lacaille, Camille Wicker, Jean-Baptiste Arnoux, Juliette Bouchereau, Claire Belloche, Cyril Gitiaux, David Grevent, Christine Broissand, Dalila Adjaoud, Marie-Thérèse Abi Warde, Dominique Plantaz, Soumeya Bekri, Pascale de Lonlay, Anaïs Brassier   +14 more
doaj   +2 more sources

Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease [PDF]

Orphanet Journal of Rare Diseases
Background Sebelipase alfa (Kanuma®) is approved for patients with Wolman disease (WD) at a dosage of 3–5 mg/kg once weekly. Survival rates in the second of two clinical trials was greater, despite recruiting more severely ill patients, probably related ...
María José de Castro, Simon A Jones, Javier de las Heras, Paula Sánchez-Pintos, María L Couce, Cristóbal Colón, Pablo Crujeiras, María Unceta, Heather Church, Kathryn Brammeier, Wu Hoi Yee, James Cooper, Laura López de Frutos, Irene Serrano-Gonzalo, María José Camba, Fiona J. White, Victoria Holmes, Arunabha Ghosh   +17 more
doaj   +2 more sources

Secondary hemophagocytic lymphohistiocytosis in pediatric patients: a single-center experience [PDF]

Frontiers in Pediatrics
BackgroundHemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome. In children, secondary HLH may occur with infection, rheumatologic disease, malignancy, or metabolic disorders and is often difficult to diagnose because
Mayada Abu Shanap, Aseel Bzour, Iyad Sultan, Rawad Rihani   +3 more
doaj   +2 more sources