Works matching DE "WOLMAN disease"

Results: 44

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

Diagnosis and management of aspergillosis in the Netherlands: a national survey.

Published in:

Mycoses, 2016, v. 59, n. 2, p. 101, doi. 10.1111/myc.12440

By:

Lestrade, Pieter P. A.;
Meis, Jacques F.;
Arends, Jan P.;
Beek, Martha T.;
Brauwer, Els;
Dijk, Karin;
Greeff, Sabine C.;
Haas, Pieter‐Jan;
Hodiamont, Caspar J.;
Kuijper, Ed J.;
Leenstra, Tjalling;
Muller, Anouk E.;
Oude Lashof, Astrid M. L.;
Rijnders, Bart J.;
Roelofsen, Eveline;
Rozemeijer, Wouter;
Tersmette, Mathijs;
Terveer, Elizabeth M.;
Verduin, Cees M.;
Wolfhagen, Maurice J. H. M.

Publication type:

Article

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

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

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

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'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

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

Healthcare resource use and costs of managing children and adults with lysosomal acid lipase deficiency at a tertiary referral centre in the United Kingdom.

Published in:

PLoS ONE, 2018, v. 13, n. 2, p. 1, doi. 10.1371/journal.pone.0191945

By:

Guest, Julian F.;
Ingram, Andy;
Ayoub, Nadia;
Hendriksz, Christian J.;
Murphy, Elaine;
Rahman, Yusof;
McKiernan, Patrick;
Mundy, Helen;
Deegan, Patrick

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

Liposomal bupivacaine for the management of postsurgical donor site pain in patients with burn injuries: a case series from two institutions.

Published in:

Clinical Case Reports, 2018, v. 6, n. 1, p. 129, doi. 10.1002/ccr3.1292

By:

Dissanaike, Sharmila;
McCauley, Jayne;
Alphonso, Carlo

Publication type:

Article

Successful long-term outcome of liver transplantation in late-onset lysosomal acid lipase deficiency.

Published in:

Pediatric Transplantation, 2016, v. 20, n. 6, p. 851, doi. 10.1111/petr.12748

By:

Sreekantam, S.;
Nicklaus‐Wollenteit, I.;
Orr, J.;
Sharif, K.;
Vijay, S.;
McKiernan, P. J.;
Santra, S.

Publication type:

Article

培美曲塞脂质体的制备及其对乳腺癌的作用观察.

Published in:

Journal of Shanghai Jiaotong University (Medical Science), 2017, v. 37, n. 2, p. 190, doi. 10.3969/j.issn.1674-8115.2017.02.011

By:

柏方;
陈婷;
刘艳;
吴克瑾;
陈青;
陆云姝;
葛梅馨

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

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

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

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

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

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

Release Pattern of Liposomal Bupivacaine in Artificial Cerebrospinal Fluid.

Published in:

Turkish Journal of Anesthesia & Reanimation, 2016, v. 44, n. 1, p. 1, doi. 10.5152/TJAR.2016.02438

By:

Düzlü, Ayşe Ünal;
Günaydın, Berrin;
Şüküroğlu, Murat Kadir;
Değim, İsmail Tuncer

Publication type:

Article

La compañía biofarmacéutica Synageva BioPharma inicia «¡APÚNTATE AL LALD-ing!», una campaña para mejorar el conocimiento sobre la deficiencia de lipasa ácida lisosomal (LALD).

Published in:: Acta Pediátrica Española, 2015, v. 73, n. 6, p. 146
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

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

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

Progression of liver disease in children and adults with lysosomal acid lipase deficiency.

Published in:

2017

By:

Burton, Barbara K.;
Silliman, Nancy;
Marulkar, Sachin

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

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

Sebelipase Alfa Normalizes ALT and Multiple other Disease-Related Abnormalities in Patients with LAL-D.

Published in:

MD Conference Express, 2014, v. 14, n. 48, p. 14, doi. 10.1177/155989771448008

By:

Vinall, Maria

Publication type:

Article

Lysosomal Acid Lipase Activity Is Reduced Both in Cryptogenic Cirrhosis and in Cirrhosis of Known Etiology.

Published in:

PLoS ONE, 2016, v. 11, n. 5, p. 1, doi. 10.1371/journal.pone.0156113

By:

Vespasiani-Gentilucci, Umberto;
Gallo, Paolo;
Piemonte, Fiorella;
Riva, Elisabetta;
Porcari, Aldostefano;
Vorini, Ferruccio;
Tozzi, Giulia;
Piccioni, Livia;
Galati, Giovanni;
De Vincentis, Antonio;
Carotti, Simone;
Morini, Sergio;
D’Amico, Jessica;
Angeletti, Silvia;
Pedone, Claudio;
Picardi, Antonio

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

T cell memory: Metabolic self-reliance.

Published in:

Nature Reviews Immunology, 2014, v. 14, n. 8, p. 518, doi. 10.1038/nri3721

By:

Minton, Kirsty

Publication type:

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

Novel Mutation in a Patient with Cholesterol Ester Storage Disease.

Published in:

Case Reports in Genetics, 2015, v. 2015, p. 1, doi. 10.1155/2015/347342

By:

Lin, Patrick;
Raikar, Sheela;
Jimenez, Jennifer;
Conard, Katrina;
Furuya, Katryn N.

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

Autophagy Is Dispensable for Macrophage-Mediated Lipid Homeostasis in Adipose Tissue.

Published in:

2016

By:

Grijalva, Ambar;
Xiaoyuan Xu;
Ferrante Jr., Anthony W.;
Xu, Xiaoyuan;
Ferrante, Anthony W Jr

Publication type:

journal 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

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

Novel Therapies.

Published in:: 2007
Publication type:: Abstract

Preparation of Liposomal Forms of a Number of Pyrazolesulfonylchlorides and Piperazinecarboxylates.

Published in:

Pharmaceutical Chemistry Journal, 2017, v. 51, n. 1, p. 65, doi. 10.1007/s11094-017-1559-6

By:

Stepanov, V.;
Bulatov, V.

Publication type:

Article

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

Lysosomal Acid Lipase Deficiency: Report of Five Cases across the Age Spectrum.

Published in:

Case Reports in Pediatrics, 2018, p. 1, doi. 10.1155/2018/4375434

By:

Curiati, Marco Antonio;
Kyosen, Sandra Obikawa;
Pereira, Vanessa Gonçalves;
Patrício, Francy Reis da Silva;
Martins, Ana Maria

Publication type:

Article

Comparative study between simple and optimized liposomal dispersion of quetiapine fumarate for diffusion through nasal route.

Published in:

Drug Delivery, 2016, v. 23, n. 4, p. 1214, doi. 10.3109/10717544.2015.1120364

By:

Upadhyay, Pratik;
Trivedi, Jatin;
Pundarikakshudu, Kilambi;
Sheth, Navin

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

Lysosomal Acid Lipase Deficiency ( LALD).

Published in:

2015

By:

Moodie, Douglas

Publication type:

Editorial