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ArticlesPeer ReviewedFull Text
Wolman disease
Author / Creator:Dao, Tuan V. ; Mandell, Gerald A. ; Jorgensen, Scott A. ; Patel, Mittun ; Southard, Richard ; Taylor, Steve ; Jacobsen, Jeffrey ; Towbin, Alexander J. ; Towbin, Richard
Publisher:Scotch Plains: Anderson Publishing Ltd
Journal title:Applied radiology (1976), 2017-04, Vol.46 (4), p.31-35
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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
Author / Creator:de Castro, María José ; Jones, Simon A ; de las Heras, Javier ; Sánchez-Pintos, Paula ; Couce, María L ; Colón, Cristóbal ; Crujeiras, Pablo ; Unceta, María ; Church, Heather ; Brammeier, Kathryn ; Yee, Wu Hoi ; Cooper, James ; López de Frutos, Laura ; Serrano-Gonzalo, Irene ; Camba, María José ; White, Fiona J. ; Holmes, Victoria ; Ghosh, Arunabha
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-06, Vol.19 (1), p.244-9, Article 244
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Wolman Disease
Author / Creator:Larson, Emily ; Freeman, Sallie
Journal title:The Gale Encyclopedia of Genetic Disorders: P-Z, 2022, p.1920-1922
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Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease
Author / Creator:Potter, Jane E. ; Petts, Gemma ; Ghosh, Arunabha ; White, Fiona J. ; Kinsella, Jane L. ; Hughes, Stephen ; Roberts, Jane ; Hodgkinson, Adam ; Brammeier, Kathryn ; Church, Heather ; Merrigan, Christine ; Hughes, Joanne ; Evans, Pamela ; Campbell, Helen ; Bonney, Denise ; Newman, William G. ; Bigger, Brian W. ; Broomfield, Alexander ; Jones, Simon A. ; Wynn, Robert F.
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.235-235, Article 235
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An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis
Author / Creator:El Hawary, Rabab ; Meshaal, Safa ; Eldash, Alia S ; Lotfy, Sohilla ; Abd Elaziz, Dalia ; Alkady, Radwa ; Darwish, Rania
Publisher:Cairo: Springer
Journal title:The Egyptian journal of medical human genetics, 2024-12, Vol.25 (1), p.160
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First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease
Author / Creator:Elaraby, Nesma M. ; Galal, Eman Reda ; Abdel-Hamid, Mohamed ; Elbendary, Hasnaa M. ; Elbadry, Mohamed ; Mekkawy, Mona K. ; Ashaat, Neveen A. ; Mounir, Samir M. ; Ashaat, Engy A.
Publisher:New York: Springer US
Journal title:Journal of molecular neuroscience, 2023-08, Vol.73 (7-8), p.598-607
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Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation
Author / Creator:Taurisano, Roberta ; Maiorana, Arianna ; De Benedetti, Fabrizio ; Dionisi-Vici, Carlo ; Boldrini, Renata ; Deodato, Federica
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2014-10, Vol.173 (10), p.1391-1394
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Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease
Author / Creator:de las Heras, Javier ; Almohalla, Carolina ; Blasco-Alonso, Javier ; Bourbon, Mafalda ; Couce, Maria-Luz ; de Castro López, María José ; García Jiménez, Mª Concepción ; Gil Ortega, David ; González-Diéguez, Luisa ; Meavilla, Silvia ; Moreno-Álvarez, Ana ; Pastor-Rosado, José ; Sánchez-Pintos, Paula ; Serrano-Gonzalo, Irene ; López, Eduardo ; Valdivielso, Pedro ; Yahyaoui, Raquel ; Quintero, Jesús
Publisher:Switzerland: MDPI AG
Journal title:Nutrients, 2024-12, Vol.16 (24), p.4309
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Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up
Author / Creator:Demaret, Tanguy ; Lacaille, Florence ; Wicker, Camille ; Arnoux, Jean-Baptiste ; Bouchereau, Juliette ; Belloche, Claire ; Gitiaux, Cyril ; Grevent, David ; Broissand, Christine ; Adjaoud, Dalila ; Abi Warde, Marie-Thérèse ; Plantaz, Dominique ; Bekri, Soumeya ; de Lonlay, Pascale ; Brassier, Anaïs
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-12, Vol.16 (1), p.507-507, Article 507
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Wolman disease presenting with hemophagocytic lymphohistiocytosis syndrome and a novel LIPA gene variant: a case report and review of the literature
Author / Creator:Asna Ashari, Kosar ; Azari-Yam, Aileen ; Shahrooei, Mohammad ; Ziaee, Vahid
Publisher:London: BioMed Central Ltd
Journal title:Journal of medical case reports, 2023-08, Vol.17 (1), p.1-369, Article 369
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Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants
Author / Creator:Jones, Simon A. ; Valayannopoulos, Vassili ; Schneider, Eugene ; Eckert, Stephen ; Banikazemi, Maryam ; Bialer, Martin ; Cederbaum, Stephen ; Chan, Alicia ; Dhawan, Anil ; Di Rocco, Maja ; Domm, Jennifer ; Enns, Gregory M. ; Finegold, David ; Gargus, J. Jay ; Guardamagna, Ornella ; Hendriksz, Christian ; Mahmoud, Iman G. ; Raiman, Julian ; Selim, Laila A. ; Whitley, Chester B. ; Zaki, Osama ; Quinn, Anthony G.
Publisher:New York: Elsevier Inc
Journal title:Genetics in medicine, 2016-05, Vol.18 (5), p.452-458
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Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics
Author / Creator:Aguisanda, Francis ; Yeh, Charles D. ; Chen, Catherine Z. ; Li, Rong ; Beers, Jeanette ; Zou, Jizhong ; Thorne, Natasha ; Zheng, Wei
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2017-06, Vol.12 (1), p.120-120, Article 120
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Incidental finding of adrenal calcifications leading to the diagnosis of lysosomal acid lipasedeficiency (Wolman disease) in a neonate
Author / Creator:Vasista, Pooja ; Tolufase, Tolulope ; Firi, Promise ; Mistry, Mikesh
Publisher:London: BMJ Publishing Group LTD
Journal title:BMJ case reports, 2025-05, Vol.18 (5), p.e265278
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4CPS-031 Efficacy and safety of high-dose twice-weekly sebelipase alfa in severe-onset Wolman disease: a case report
Author / Creator:Castro Balado, A ; de Castro López, MJ ; Sánchez Pintos, P ; Bandín Vilar, EJ ; Giráldez Montero, JM ; García Quintanilla, L ; Couce Pico, ML ; Zarra Ferro, I
Publisher:London: British Medical Journal Publishing Group
Journal title:European journal of hospital pharmacy. Science and practice, 2022-03, Vol.29 (Suppl 1), p.A37-A37
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High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman’s Disease
Author / Creator:Eskandari, Siawosh K. ; Revenich, Elisabeth G.M. ; Pot, Dirk J. ; de Boer, Foekje ; Bierings, Marc ; van Spronsen, Francjan J. ; van Hasselt, Peter M. ; Lindemans, Caroline A. ; Lubout, Charlotte M.A.
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2024-02, Vol.390 (7), p.623-629
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Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease
Author / Creator:Tolar, J ; Petryk, A ; Khan, K ; Bjoraker, K J ; Jessurun, J ; Dolan, M ; Kivisto, T ; Charnas, L ; Shapiro, E G ; Orchard, P J
Publisher:London: Nature Publishing Group UK
Journal title:Bone marrow transplantation (Basingstoke), 2009-01, Vol.43 (1), p.21-27
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A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
Author / Creator:Burton, Barbara K ; Balwani, Manisha ; Feillet, François ; Barić, Ivo ; Burrow, T. Andrew ; Camarena Grande, Carmen ; Coker, Mahmut ; Consuelo-Sánchez, Alejandra ; Deegan, Patrick ; Di Rocco, Maja ; Enns, Gregory M ; Erbe, Richard ; Ezgu, Fatih ; Ficicioglu, Can ; Furuya, Katryn N ; Kane, John ; Laukaitis, Christina ; Mengel, Eugen ; Neilan, Edward G ; Nightingale, Scott ; Peters, Heidi ; Scarpa, Maurizio ; Schwab, K. Otfried ; Smolka, Vratislav ; Valayannopoulos, Vassili ; Wood, Marnie ; Goodman, Zachary ; Yang, Yijun ; Eckert, Stephen ; Rojas-Caro, Sandra ; Quinn, Anthony G
Publisher:United States: Massachusetts Medical Society
Journal title:The New England journal of medicine, 2015-09, Vol.373 (11), p.1010-1020
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Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening
Author / Creator:de Castro Lopez, Maria Jose ; White, Fiona J. ; Holmes, Victoria ; Roberts, Jane ; Wu, Teresa H. Y. ; Cooper, James A. ; Church, Heather J. ; Petts, Gemma ; Wynn, Robert F. ; Jones, Simon A. ; Ghosh, Arunabha
Publisher:Switzerland: MDPI AG
Journal title:International journal of neonatal screening, 2025-02, Vol.11 (1), p.17
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Secondary Hemophagocytic Lymphohistiocytosis in an Infant with Wolman Disease
Author / Creator:Küçükçongar Yavaş, Aynur ; Orhaner, Betül ; Genç, Pınar ; Kılıç, Nevin ; Erdoğan, Hakan ; Özdemir, Özlem ; Ekici, Arzu
Publisher:Turkey: Türk Hematoloji Derneği
Journal title:Turkish journal of haematology, 2017-08, Vol.34 (3), p.264-265
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Reference EntriesFull Text
Wolman Disease
Author / Creator:Larson, Emily ; Freeman, Sallie
Journal title:The Gale Encyclopedia of Genetic Disorders: P-Z, 2016, p.1833-1835
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Showing 1 to 20 of 220 results

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Wolman disease

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

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Wolman Disease

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

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An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis

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First LIPA Mutational Analysis in Egyptian Patients Reveals One Novel Variant: Wolman Disease

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Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation

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Practical Recommendations for the Diagnosis and Management of Lysosomal Acid Lipase Deficiency with a Focus on Wolman Disease

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

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

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Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants

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Neural stem cells for disease modeling of Wolman disease and evaluation of therapeutics

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Incidental finding of adrenal calcifications leading to the diagnosis of lysosomal acid lipasedeficiency (Wolman disease) in a neonate

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4CPS-031 Efficacy and safety of high-dose twice-weekly sebelipase alfa in severe-onset Wolman disease: a case report

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High-Dose ERT, Rituximab, and Early HSCT in an Infant with Wolman’s Disease

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Long-term metabolic, endocrine, and neuropsychological outcome of hematopoietic cell transplantation for Wolman disease

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A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency

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Does Early Diagnosis and Treatment Alter the Clinical Course of Wolman Disease? Divergent Trajectories in Two Siblings and a Consideration for Newborn Screening

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Secondary Hemophagocytic Lymphohistiocytosis in an Infant with Wolman Disease

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Wolman Disease

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