Works matching Wolman disease

Results: 122

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

Published in:

Bone Marrow Transplantation, 2009, v. 43, n. 1, p. 21, doi. 10.1038/bmt.2008.273

By:

Tolar, J.;
Petryk, A.;
Khan, K.;
Bjoraker, K. J.;
Jessurun, J.;
Dolan, M.;
Kivisto, T.;
Charnas, L.;
Shapiro, E. G.;
Orchard, P. J.

Publication type:

Article

Wolman disease in patients with familial hemophagocytic lymphohistiocytosis (FHL) negative mutations.

Published in:

Egyptian Journal of Medical Human Genetics, 2016, v. 17, n. 3, p. 277, doi. 10.1016/j.ejmhg.2015.08.005

By:

Elsayed, Solaf;
Elsobky, Ezzat;
Tantawy, Azza;
Ragab, Eman;
Gil, Marine;
Lambert, Nathalie;
de Saint Basile, Geneviève

Publication type:

Article

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

Published in:

2021

By:

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.

Publication type:

journal article

Morphological characteristics of lipid accumulation in liver-constituting cells of acid lipase deficiency rats (Wolman’s disease model rats).

Published in:

Pathology International, 1999, v. 49, n. 4, p. 291, doi. 10.1046/j.1440-1827.1999.00862.x

By:

Kuriwaki, Kazumi;
Yoshida, Hiroki;
Yoshida

Publication type:

Article

Successful treatment of Wolman disease by unrelated umbilical cord blood transplantation.

Published in:

2007

By:

Stein, Jerry;
Garty, Ben Zion;
Dror, Yael;
Fenig, Eyal;
Zeigler, Marsha;
Yaniv, Isaac

Publication type:

journal article

Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 10, p. 1391, doi. 10.1007/s00431-014-2338-y

By:

Taurisano, Roberta;
Maiorana, Arianna;
Benedetti, Fabrizio;
Dionisi-Vici, Carlo;
Boldrini, Renata;
Deodato, Federica

Publication type:

Article

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

Published in:

2017

By:

Aguisanda, Francis;
Yeh, Charles D.;
Chen, Catherine Z.;
Rong Li;
Beers, Jeanette;
Jizhong Zou;
Thorne, Natasha;
Wei Zheng;
Li, Rong;
Zou, Jizhong;
Zheng, Wei

Publication type:

journal article

A New Mutation in Diagnosis of Wolman Disease: Case Report.

Published in:

Journal of Academic Research in Medicine, 2019, v. 9, n. 4, p. 150, doi. 10.5152/jarem.2019.2221

By:

Cansever, Mehmet Şerif;
Aslan, Mine;
Zübarioğlu, Tanyel

Publication type:

Article

Isolated fetal ascites caused by Wolman disease.

Published in:

Ultrasound in Obstetrics & Gynecology, 2003, v. 21, n. 3, p. 297, doi. 10.1002/uog.73

By:

Ben-Haroush, A.;
Yogev, Y.;
Levit, O.;
Hod, M.;
Kaplan, B.

Publication type:

Article

Wolman disease successfully treated by bone marrow transplantation.

Published in:

Bone Marrow Transplantation, 2000, v. 26, n. 5, p. 567, doi. 10.1038/sj.bmt.1702557

By:

Krivit, W;
Peters, C;
Dusenbery, K;
Ben-Yoseph, Y;
Ramsay, N K C;
Wagner, J E;
Anderson, R

Publication type:

Article

Lysosomal Acid Lipase Deficiency: Wolman Disease and Cholesteryl Ester Storage Disease.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2012, v. 10, n. 1, p. 1
Publication type:: Article

Wolman's Disease with Secondary Hemophagocytic Lymphohistiocytosis.

Published in:

Pediatric Hematology & Oncology, 2014, v. 31, n. 6, p. 576, doi. 10.3109/08880018.2014.920942

By:

Rabah, F.;
Al-Hashmi, N.;
Beshlawi, I.

Publication type:

Article

Ultrasound appearance of bowel wall in Wolman's disease.

Published in:

2003

By:

Nchimi, Alain;
Rausin, Léon;
Khamis, Jamil;
Rausin, Léon

Publication type:

Case Study

Болест на Уолман - представяне на случай и на съвременните възможности за лечение

Published in:

Pediatria, 2017, v. 57, n. 4, p. 23

By:

Узунова, Й.;
Авджиева - Тзавелла, Д.;
Пъшев, В.;
Кальонски, Р.;
Синигерска, И.;
Горнев, Р.;
Кадъм, А.;
Тинчева, Р.;
Спасов, Л.

Publication type:

Article

An Egyptian child with Wolman disease presenting with hemophagocytic lymphohistiocytosis.

Published in:

Egyptian Journal of Medical Human Genetics, 2024, v. 25, n. 1, p. 1, doi. 10.1186/s43042-024-00629-9

By:

El Hawary, Rabab;
Meshaal, Safa;
Eldash, Alia S.;
Lotfy, Sohilla;
Abd Elaziz, Dalia;
Alkady, Radwa;
Darwish, Rania;
Erfan, Aya;
Saad, Mai;
Chohayeb, Engy;
Galal, Nermeen;
Elmarsafy, Aisha M.

Publication type:

Article

Wolman Hastalığında Yeni Bir Mutasyon: Olgu Sunumu.

Published in:

Journal of Academic Research in Medicine, 2019, v. 9, n. 3, p. 150, doi. 10.5152/jarem.2019.2221

By:

Cansever, Mehmet Şerif;
Aslan, Mine;
Zübarioğlu, Tanyel

Publication type:

Article

Wolman Hastalığında Yeni Bir Mutasyon: Olgu Sunumu.

Published in:

Journal of Academic Research in Medicine, 2019, v. 9, n. 1, p. 150, doi. 10.5152/jarem.2019.2221

By:

Cansever, Mehmet Şerif;
Aslan, Mine;
Zübarioğlu, Tanyel

Publication type:

Article

Wolman's disease: Ultrastructural evidence of lipid accumulation in central and peripheral nervous systems.

Published in:

Acta Neuropathologica, 1979, v. 45, n. 1, p. 37, doi. 10.1007/BF00691802

By:

Byrd, J.;
Powers, J.

Publication type:

Article

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

Published in:

2023

By:

Asna Ashari, Kosar;
Azari-Yam, Aileen;
Shahrooei, Mohammad;
Ziaee, Vahid

Publication type:

Case Study

LYSOSOMAL ACID LIPASE DEFICIENCY: WOLMAN DISEASE AND CHOLESTERYL ESTER STORAGE DISEASE.

Published in:

Contributions / Prilozi (1857-9345), 2014, v. 35, n. 1, p. 99

By:

Tylki-Szymańska, Anna;
Jurecka, Agnieszka

Publication type:

Article

Lysosomal acid lipase deficiency in pediatric patients: a scoping review.

Published in:

Jornal de Pediatria, 2022, v. 98, n. 1, p. 4, doi. 10.1016/j.jped.2021.03.003

By:

Witeck, Camila da Rosa;
Schmitz, Anne Calbusch;
Dias de Oliveira, Júlia Meller;
Luís Porporatti, André;
De Luca Canto, Graziela;
de Souza Pires, Maria Marlene

Publication type:

Article

Wolman's disease presenting with secondary hemophagocytic lymphohistiocytosis: a case report from Saudi Arabia and literature review.

Published in:

2021

By:

Alabbas, Fahad;
Elyamany, Ghaleb;
Alanzi, Talal;
Ali, Tahani Bin;
Albatniji, Fatma;
Alfaraidi, Huda

Publication type:

journal article

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

Published in:

Nutrients, 2024, v. 16, n. 24, p. 4309, doi. 10.3390/nu16244309

By:

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

Publication type:

Article

Does Lysosomial Acid Lipase Reduction Play a Role in Adult Non-Alcoholic Fatty Liver Disease?

Published in:

International Journal of Molecular Sciences, 2015, v. 16, n. 12, p. 28014, doi. 10.3390/ijms161226085

By:

Baratta, Francesco;
Pastori, Daniele;
Polimeni, Licia;
Tozzi, Giulia;
Violi, Francesco;
Angelico, Francesco;
Del Ben, Maria

Publication type:

Article

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

Published in:

International Journal of Neonatal Screening (IJNS), 2025, v. 11, n. 1, p. 17, doi. 10.3390/ijns11010017

By:

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

Publication type:

Article

Lysosomal Acid Lipase Deficiency, a Rare Pathology: The First Pediatric Patient Reported in Colombia.

Published in:

American Journal of Case Reports, 2018, v. 19, p. 669, doi. 10.12659/AJCR.908808

By:

Botero, Verónica;
Garcia, Victor H.;
Gomez-Duarte, Catalina;
Aristizabal, Ana M.;
Arrunategui, Ana M.;
Echeverri, Gabriel J.;
Pachajoa, Harry

Publication type:

Article

Cholesterol Ester Storage Disease With Unusual Neurological Manifestations in Two Siblings: A Report From South India.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 12, p. 1401, doi. 10.1177/0883073807307104

By:

Bindu, P. S.;
Taly, A. B.;
Christopher, R.;
Bharatkumar, P. V.;
Panda, S.;
Netravathi, M.;
Ravishankar, S.;
Mahadevan, A.;
Yasha, T. C.;
Gayathri, N.

Publication type:

Article

Novel treatment options for lysosomal acid lipase deficiency: critical appraisal of sebelipase alfa.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 157, doi. 10.2147/TACG.S86760

By:

Su, Kim;
Donaldson, Emma;
Sharma, Reena

Publication type:

Article

Nemoc ze střádání esterů cholesterolu (CESD): klinická, laboratorní a histologická charakteristika šesti pacientů.

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2014, v. 69, n. 3, p. 148

By:

Mazurová, S.;
Poupětová, H.;
Hůlková, H.;
Ťoukálková, L.;
Urbanová, Z.;
Zeman, J.;
Smolka, V.;
Malinová, V.;
Honzík, T.

Publication type:

Article

A 14‐step desensitization protocol for sebelipase alfa hypersensitivity in a patient with Wolman disease and secondary hemophagocytic lymphohistiocytosis.

Published in:

Pediatric Allergy & Immunology, 2024, v. 35, n. 4, p. 1, doi. 10.1111/pai.14121

By:

Nguyen, Minh H. N.;
Bruening, Rachel;
Abel, Trent;
Lyons, Shannon;
Denhardt, Brenna;
Moore, Jenna;
Sriaroon, Panida;
Hajirawala, Monica;
Kim, Alexander Y.

Publication type:

Article

P17.08: Prenatal ultrasound findings of Wolman's disease: a case report.

Published in:

Ultrasound in Obstetrics & Gynecology, 2009, v. 34, n. S1, p. 243, doi. 10.1002/uog.7241

By:

Sood, M.;
Vohra, N.;
Bialer, M.;
Tam Tam, H. B.;
Rochelson, B. L.

Publication type:

Article

Long term substrate reduction therapy with ezetimibe alone or associated with statins in three adult patients with lysosomal acid lipase deficiency.

Published in:

2018

By:

Di Rocco, Maja;
Pisciotta, Livia;
Madeo, Annalisa;
Bertamino, Marta;
Bertolini, Stefano

Publication type:

journal article

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

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03219-5

By:

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

Publication type:

Article

Pathological evidence of Wolman's disease following hematopoietic stem cell transplantation despite correction of lysosomal acid lipase activity.

Published in:

2009

By:

Gramatges, M. M.;
Dvorak, C. C.;
Regula, D. P.;
Enns, G. M.;
Weinberg, K.;
Agarwal, R.

Publication type:

Letter

Allogeneic stem cell transplantation for the treatment of lysosomal and peroxisomal metabolic diseases.

Published in:

Springer Seminars in Immunopathology, 2004, v. 26, n. 1/2, p. 119, doi. 10.1007/s00281-004-0166-2

By:

Krivit, William

Publication type:

Article

Alexion pays big for Synageva's rare disease drug candidate.

Published in:

Nature Biotechnology, 2015, v. 33, n. 7, p. 679, doi. 10.1038/nbt0715-679

By:

Ratner, Mark

Publication type:

Article

Novel Therapies.

Published in:: 2007
Publication type:: Abstract

First trimester diagnosis of Wolman's disease.

Published in:

1988

By:

Van Diggelen, O. P.;
Von Koskull, H.;
Ämmälä, P.;
Vredeveldt, G. T. M.;
Janse, H. C.;
Kleijer, W. J.;
Ammälä, P;
Vredeveldt, G T

Publication type:

journal article

Wolman disease and its treatment.

Published in:

Clinical Pediatrics, 1995, v. 34, n. 4, p. 207, doi. 10.1177/000992289503400406

By:

Wolman, Moshe

Publication type:

Article

Electron Microscopy of Chorionic Villus Samples for Prenatal Diagnosis of Lysosomal Storage Disorders.

Published in:

Ultrastructural Pathology, 2007, v. 31, n. 1, p. 15, doi. 10.1080/01913120601169469

By:

Fowler, D. J.;
Anderson, G.;
Vellodi, A.;
Malone, M.;
Sebire, N. J.

Publication type:

Article

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

Published in:

2021

By:

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

Publication type:

journal article

Localised massive tumourous xanthomatosis of the small intestine.

Published in:

International Journal of Colorectal Disease, 2007, v. 22, n. 11, p. 1401, doi. 10.1007/s00384-007-0348-1

By:

Melling, N.;
Bruder, E.;
Dimmler, A.;
Hohenberger, W.;
Aigner, T.

Publication type:

Article

Wolman's disease in an infant.

Published in:

British Journal of Haematology, 2003, v. 122, n. 4, p. 522, doi. 10.1046/j.1365-2141.2003.04406.x

By:

Browne, Martin;
Somers, Gino;
Savoia, Helen;
Kukuruzovic, Renata

Publication type:

Article

Normal fluorine-18-labelled 2-fluoro-2-deoxyglucose positron emission tomography and magnetic resonance imaging of the brain in Wolman disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 7, p. 846, doi. 10.1023/A:1005574511759

By:

Al-Essa, M.;
Bakheet, S.;
Patay, Z.;
Powe, J.;
Ozand, P.

Publication type:

Article

Fatal genetic defect causing Wolman disease.

Published in:

Journal of Inherited Metabolic Disease, 1999, v. 22, n. 1, p. 93, doi. 10.1023/A:1005428122457

By:

Mayatepek, E.;
Seedorf, U.;
Wiebusch, H.;
Lenhartz, H.;
Assmann, G.

Publication type:

Article

HISTOCHEMICAL STUDIES IN WOLMAN'S DISEASE - REPORT OF AN AUTOPSY CASE ACCOMPANIED WITH A LARGE AMOUNT OF MILKY ASCITES -.

Published in:

Pathology International, 1973, v. 23, n. 4, p. 779, doi. 10.1111/j.1440-1827.1973.tb02775.x

By:

Uno, Yutaka;
Taniguchi, Aki;
Tanaka, Eiichi

Publication type:

Article

Activation of mTOR pathway in myeloid-derived suppressor cells stimulates cancer cell proliferation and metastasis in lal<sup>−/−</sup> mice.

Published in:

Oncogene, 2015, v. 34, n. 15, p. 1938, doi. 10.1038/onc.2014.143

By:

Zhao, T;
Du, H;
Ding, X;
Walls, K;
Yan, C

Publication type:

Article

IMPORTANCE OF LIVER BIOPSY IN THE DIAGNOSIS OF LYSOSOMAL ACID LIPASE DEFICIENCY: A CASE REPORT.

Published in:

Revista Paulista de Pediatria, 2018, v. 36, n. 1, p. 113, doi. 10.1590/1984-0462/;2018;36;1;00016

By:

De Tommaso, Adriana Maria Alves;
de Carvalho Barra, Flávia Fonseca;
Hessel, Gabriel;
Moreno, Carolina Araújo;
Giugliani, Roberto;
Fazzio Escanhoela, Cecília Amélia

Publication type:

Article

Prenatal sonographic findings in a case of Wolman's disease.

Published in:

2018

By:

Blitz, Matthew J.;
Rochelson, Burton;
Sood, Monica;
Bialer, Martin G.;
Vohra, Nidhi

Publication type:

Case Study

Biochemical diagnosis of Wolman disease among patients with suspected lysosomal storage diseases.

Published in:

Middle East Journal of Medical Genetics, 2019, v. 8, n. 2, p. 119, doi. 10.4103/MXE.MXE_2_20

By:

Fateen, Ekram;
El Ghor, Mohammed;
Deen Dakroury, Marwa

Publication type:

Article