Results 181 to 190 of about 10,325 (203)

Altered Macrophage Function Associated with Crystalline Lung Inflammation in Acid Sphingomyelinase Deficiency

American Journal of Respiratory Cell and Molecular Biology, 2021
Deficiency of ASM (acid sphingomyelinase) causes the lysosomal storage Niemann-Pick disease (NPD). Patients with NPD type B may develop progressive interstitial lung disease with frequent respiratory infections. Although several investigations using the ASM-deficient (ASMKO) mouse NPD model revealed inflammation and foamy macrophages, there is little ...
Joanna M. Poczobutt, Andrew M. Mikosz, Christophe Poirier, Erica L. Beatman, Karina A. Serban, Fabienne Gally, Danting Cao, Alexandra L. McCubbrey, Christina F. Cornell, Kelly S. Schweitzer, Evgeny V. Berdyshev, Irina A. Bronova, François Paris, Irina Petrache   +13 more
openaire   +3 more sources

The pathogenesis and treatment of acid sphingomyelinase‐deficient Niemann–Pick disease

Journal of Inherited Metabolic Disease, 2007
SummaryPatients with types A and B Niemann–Pick disease (NPD) have an inherited deficiency of acid sphingomyelinase (ASM) activity. The clinical spectrum of this disorder ranges from the infantile, neurological form that results in death by 3 years of age (type A NPD) to the non‐neurological form (type B NPD) that is compatible with survival into ...
openaire   +3 more sources

Acid sphingomyelinase‐deficient Niemann–Pick disease: Novel findings in a Greek child

Journal of Inherited Metabolic Disease, 2007
SummaryNiemann–Pick Disease (NPD) is a heterogeneous group of autosomal recessive disorders characterized by progressive accumulation of sphingomyelin and cholesterol in lysosomes. Six types of NPD have been described based on clinical presentation and involved organs.
M, Fotoulaki, E H, Schuchman, C M, Simonaro, P, Augoustides-Savvopoulou, H, Michelakakis, P, Panagopoulou, G, Varlamis, S, Nousia-Arvanitakis   +7 more
openaire   +2 more sources

Acid sphingomyelinase deficiency: Cardiac dysfunction and characteristic findings of the coronary arteries

Journal of Inherited Metabolic Disease, 2006
SummaryTwo sisters with type B Niemann–Pick disease (genotype: S436R/S436R) showed cardiac dysfunctions, not secondary to pulmonary disease, at the beginning of the third decade. In the younger sister, myocardial dysfunction was refractory to treatment, resulting in death. At autopsy, the distal branches of the coronary arteries showed narrowing of the
H, Ishii, T, Takahashi, M, Toyono, M, Tamura, K, Harada, M, Yoshida, Y, Nishikawa, K, Enomoto, G, Takada   +8 more
openaire   +2 more sources

Joint and skeletal pathology in acid sphingomyelinase deficient mice

Molecular Genetics and Metabolism, 2023
Calogera M. Simonaro, Victor A. DeAngelis, Edward H. Schuchman   +2 more
openaire   +1 more source

[Acid sphingomyelinase deficiency and spleen trauma: splenectomy or not splenectomy?].

La Revue de medecine interne, 2016
Acid sphingomyelinase deficiency leads to a severe infantile disease (Niemann-Pick disease type A) or an attenuated form of the disease encountered in adults (Niemann-Pick type B), including pulmonary fibrosis and splenomegaly.A 52-year-old man with Niemann-Pick disease type B was admitted with splenic rupture.
O, Lidove, L, Le Fèvre, N, Goasguen, M, Jamali, L, Vercellino, M, Garnier, M, Khellaf, N, Belmatoug, J-M, Ziza   +8 more
openaire   +1 more source

Acid Sphingomyelinase Deficient Niemann-Pick Disease

2009
Hubert Scharnagl, Winfried März, Markus Böhm, Thomas A. Luger, Federico Fracassi, Alessia Diana, Thomas Frieling, Susanna Mac, Dan Donoghue, Susanne Kohl, Gema Ariceta, Daniel Batlle, Gema Ariceta, Daniel Batlle, Daniel Batlle, Ehteshamudin Syed, Jacob I. Sznajder, Christos C. Zouboulis, Markus Pfister, Deepak Kamat, Alexander K. C. Leung, Thomas Schwarz, Jorge Frank, Sven Schinner, Stefan R. Bornstein, Meinhard Schiller, Dorothée Nashan, Cord Sunderkötter, Thomas Schwarz, Mark Berneburg, Nigel G. Laing, Alan H. Beggs, Hans H. Goebel, Du Toit Loots, Amrik Sahota, Jay A. Tischfield, H. Anne Simmonds, Wolfgang Dietmaier, Arndt Hartmann, Michael S. Hershfield, Georges Berghe, Jaak Jaeken, Manish Suneja, Christie P. Thomas, Manish Suneja, Christie P. Thomas, Holger S. Willenberg, Stefan R. Bornstein, Holger S. Willenberg, James M. Powers, James M. Powers, Herbert L. Bonkovsky, Manish Thapar, Sishir Mathur, Lee A. Denson, André B. P. Kuilenburg, Albert H. Gennip, Wim Hul, Filip Vanhoenacker, Markus Böhm, Thomas A. Luger, Karel Frasch, Markus Jäger, Nilufar Mohebbi, Carsten A. Wagner, Malin Lindstedt, Carl Borrebaeck, Michala Bezdekova, Svetlana Brychtova, Zdenek Kolar, Tomas Brychta, Renata Kucerova, Martina Bienova, Tobias W. Fischer, Ralf Paus, Birgit Haack, Stefan Kins, Konrad Beyreuther, André B. P. Kuilenburg, Albert H. Gennip, Sehsuvar Ertürk, Sim Kutlay, Michael Emberger, Helmut Hintner, Thomas Hawranek, Ruth Danzeisen, Albert C. Ludolph, Michelle M. Estrella, Mohamed G. Atta, Kumarasamy Thangaraj, Singh Rajender, John-John B. Schnog, Victor E. A. Gerdes, Karina Yazdanbakhsh, Andromachi Scaradavou, Norbert Gattermann, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Alessandra Baumer, Wolfgang Schillinger, Gerd Hasenfuss, Matthias Wenning, Murat Bas, Georg Kojda, Randolf Brehler, Engin Sezer, Atilla Şenaylı, Michael Stürzl, Peter Klein, Christian Zietz, Steven Mumm, Guido Adler, Kirsty Kiezebrink, Alan P. Knutsen, Cord Sunderkötter, Henrik Larsson, Essi Viding, Hugo Ten Cate, James K. Stoller, David A. Lomas, Daniela Eser, Rainer Rupprecht, Matthias Siepe, Friedhelm Beyersdorf, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Volker Liebe, Jens J. Kaden, Raffi Bekeredjian, Norbert Frey, Pavel Fencl, Lucia K. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Omar A. Ibrahimi, Moosa Mohammadi, Michael M. Hoffmann, Winfried März, Sebastian Wesselborg, Björn Stork, Sylvia Stöckler-Ipsiroglu, Avi Fischer, Davendra Mehta, Patrick T. S. Ma, Michael L. H. Ma, Alexander K. C. Leung, Jens Seiler, Martin Rotter, Alexander Leaf, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Christopher K. Zarins, Roberto Manfredi, Jeno Sebes, Yun Zhao, Darryl C. Zeldin, Pere Ginès, Mónica Guevara, Zhirong Yao, Colin A. Johnson, Damian C. Melles∗, S. Marie, Mark G. Buckley, Gordon Dent, Stephen T. Holgate, Alfried Kohlschütter, Thomas Klockgether, Thomas Klockgether, Thomas Klockgether, Eleanor M. Summerhill, F. Dennis McCool, Rita L. McGill, Mayumi Endo, Rodolfo Paoletti, Andrea Cignarella, Randolf Brehler, M. Cristina Digilio, Bruno Marino, Anna Sarkozy, Bruno Dallapiccola, Kurt C. Roberts-Thomson, Jonathan M. Kalman, Michael L. H. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Andy Wessels, Tim McQuinn, Siobhan D. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Marc Zimmermann, Haran Burri, Robert Dalla Pozza, Klaus-Peter Lesch, Thomas Bourgeron, Nada Kanaan   +199 more
openaire   +1 more source

Acid Sphingomyelinase-Deficient Niemann–Pick Disease

2007
Edward H. Schuchmann, Margaret McGovern, Calogera M. Simonaro, Melissa P. Wasserstein, Robert J. Desnick   +4 more
openaire   +1 more source

A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results

Genetics in Medicine, 2022
Melissa P Wasserstein, Carla Em Hollak, Antonio Barbato   +2 more
exaly  

Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases

Molecular Genetics and Metabolism, 2016
David Cassiman, Bruno Bembi, Manuel Schiff   +2 more
exaly