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Mining the Plasma Proteome for Insights into the Molecular Pathology of Pulmonary Arterial Hypertension

Autor: Lars Harbaum, Christopher J. Rhodes, John Wharton, Allan Lawrie, Jason H. Karnes, Ankit A. Desai, William C. Nichols, Marc Humbert, David Montani, Barbara Girerd, Olivier Sitbon, Mario Boehm, Tatyana Novoyatleva, Ralph T. Schermuly, H. Ardeschir Ghofrani, Mark Toshner, David G. Kiely, Luke S. Howard, Emilia M. Swietlik, Stefan Gräf, Maik Pietzner, Nicholas W. Morrell, Martin R. Wilkins, L Southgate, RD Machado, J Martin, WH Ouwehand, MW Pauciulo, A Arora, K Lutz, F Ahmad, SL Archer, R Argula, ED Austin, D Badesch, S Bakshi, C Barnett, R Benza, N Bhatt, CD Burger, M Chakinala, J Elwing, T Fortin, RP Frantz, A Frost, JGN Garcia, J Harley, H He, NS Hill, R Hirsch, D Ivy, J Klinger, T Lahm, K Marsolo, LJ Martin, SD Nathan, RJ Oudiz, Z Rehman, I Robbins, DM Roden, EB Rosenzweig, G Saydain, R Schilz, RW Simms, M Simon, H Tang, AY Tchourbanov, T Thenappan, F Torres, AK Walsworth, RE Walter, RJ White, J Wilt, D Yung, R Kittles, J Aman, J Knight, KB Hanscombe, H Gall, A Ulrich, HJ Bogaard, C Church, JG Coghlan, R Condliffe, PA Corris, C Danesino, CG Elliott, A Franke, S Ghio, JSR Gibbs, AC Houweling, G Kovacs, M Laudes, RV MacKenzie Ross, S Moledina, M Newnham, A Olschewski, H Olschewski, AJ Peacock, J Pepke-Zaba, L Scelsi, W Seeger, CM Shaffer, O Sitbon, J Suntharalingam, C Treacy, A Vonk Noordegraaf, Q Waisfisz, SJ Wort, RC Trembath, M Germain, I Cebola, J Ferrer, P Amouyel, S Debette, M Eyries, F Soubrier, DA Trégouët

Rationale: Pulmonary arterial hypertension (PAH) is characterized by structural remodeling of pulmonary arteries and arterioles. Underlying biological processes are likely reflected in a perturbation of circulating proteins. Objectives: To quantify a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f363dc083e705c01eb9c6d70a4b67afd
https://www.repository.cam.ac.uk/handle/1810/340465

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Non-progressive psychomotor retardation in a child with severe deficiency of arylsulphatase A activity

Autor: A. F. Podesta, Alessandra 'Azzo, Giampiero Beluffi, C. Danesino, M. Arica, E. Bianchi

Publikováno v: Clinical Genetics. 26:462-471

Severe deficiency of arylsulphatase A (ARSA) activity was detected in a boy with delayed psychomotor development, coarse face and liver enlargement when he was aged 2. The case does not fit into the description of the Metachromatic leukodystrophy (ML

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::061cb9968684636ad3794e6e1d7500e8
https://doi.org/10.1111/j.1399-0004.1984.tb01090.x

Diagnosis of glycogenosis type 2

Autor: B. BEMBI, E. CERINI, C. DANESINO, M. A. DONATI, S. GASPERINI, L. MORANDI, O. MUSUMECI, S. RAVAGLIA, F. SEIDITA, A. TOSCANO, A. VIANELLO, PARENTI, GIANCARLO

The diagnosis of glycogenosis type II is often complicated by the rarity of the condition and the heterogeneity of the clinical manifestations of the disease. It is a progressive, debilitating, and often fatal neuromuscular disorder that manifests as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3730::9a734ff246e786ae9bb9a2f80e85fb9a
http://hdl.handle.net/11588/335642