Zobrazeno 1 - 10
of 225
pro vyhledávání: '"G.M. Pastores"'
Publikováno v:
Respiratory Medicine Case Reports, Vol 29, Iss , Pp - (2020)
Background: We describe this case of a young gentleman presenting with acute dyspnoea on a background history of known, long-standing asthma. His dramatic presentation, notable for profound hypoxia and cyanosis, led to an unexpected additional diagno
Externí odkaz:
https://doaj.org/article/c3874d6da5b44d0cbf81e43fc46deffa
Autor:
Annemiek M.J. van Wegberg, Friedrich Trefz, Maria Gizewska, Sibtain Ahmed, Layachi Chabraoui, Maha S. Zaki, François Maillot, Francjan J. van Spronsen, K. Ahring, F. Al Mutairi, J.B. Arnoux, D. Ballhausen, J. Baruteau, L. Bernstein, S. Bijarnia-Mahay, F. Boemer, A. Bordugo, L. Brodosi, S. Brooks, H.B. Chew, K. Chyz, M. Coker, C. Collingwood, V. Cornejo, M.L. Couce, A. Cozens, S. Dahri, A.M. Das, C. de Laet, J. de las Heras Montero, A. de Vreugd, F.G. Debray, M. Dercksen, M. Descartes, L. Diogo, E. Drogari, H. Eiroa, F.T. Eminoglu, G.M. Enns, F. Eyskens, F. Feillet, S. Ford, L. Franzson, P. Freisinger, P. Garcia, O. Grafakou, G. Gramer, S. Gray, U. Groselj, S.C. Grünert, D. Haas, B. Handoom, T.B. Harte, C. Hendriksz, R.S. Heredia, J. Hertecant, T. Hoi-Yee Wu, A. Inwood, S.S. Jamuar, P. Jesina, J.J. Jonsson, A. Jovanovic, I. Kern, S. Kilavuz, I. Knerr, D. Kor, D. Korycinska-Chaaban, M. Kreile, B. Kumru, B. Lanpher, R. Lapatto, C. Lavigne, E. Leao-Teles, V. Leuzzi, N. Longo, A. Lopez-Uriarte, C.M.A. Lubout, A. MacDonald, E.M. Megdad, J. Mitchell, F. Mochel, P.J. Moreno-Lozano, A. Morris, C.F. Moura de Souza, T. Munoz, P.I. Nevalainen, M. Oscarson, K. Õunap, S. Paci, G.M. Pastores, P.L. Pearl, F.B. Piazzon, J. Pitt, G. Poon, F. Porta, N. Presner, A.A. Rabaty, K. Reinson, P. Reismann, T. Rink, J.C. Rocha, E. Rodrigues, A.G. Saini, A. Sanchez-Valle, J. Sander, P. Sarkhail, I.V.D. Schwartz, R. Sharma, B. Sheng, K. Siriwardena, S. Sirrs, D.R. Sjarif, N. Sondheimer, R. Sparkes, N. Specola, K.M. Stepien, I. Szatmari, M. Tchan, T. Tkemaladze, C. Tran, M.G. Valle, M. Vela-Amieva, M.L. Verdaguer, S.A. Vergano, P. Vermeersch, R. Vulturar, M.A.E.M. Wagenmakers, N. Weinhold, A.B. Williams, W.G. Wilson, D. Zafeiriou, H. Zhang, A. Ziagaki, J. Zolkowska
Publikováno v:
Journal of Pediatrics, 239, 231-234.e2
Journal of Pediatrics, 239, pp. 231-234.e2
Journal of Pediatrics, 239, 231-+. MOSBY-ELSEVIER
Journal of Pediatrics, 239, pp. 231-234.e2
Journal of Pediatrics, 239, 231-+. MOSBY-ELSEVIER
Many countries do not have a newborn screening (NBS) program, and immigrants from such countries are at risk for late diagnosis of phenylketonuria (PKU). In this international survey, 52 of 259 patients (20%) with late diagnosed PKU were immigrants,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7348c15ff180e1571446dba681221c93
http://hdl.handle.net/2066/244721
http://hdl.handle.net/2066/244721
Publikováno v:
Respiratory Medicine Case Reports
Respiratory Medicine Case Reports, Vol 29, Iss, Pp-(2020)
Respiratory Medicine Case Reports, Vol 29, Iss, Pp-(2020)
Background: We describe this case of a young gentleman presenting with acute dyspnoea on a background history of known, long-standing asthma. His dramatic presentation, notable for profound hypoxia and cyanosis, led to an unexpected additional diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::13bde5e93317827adff6326e13edc82e
https://doi.org/10.1016/j.rmcr.2019.100983
https://doi.org/10.1016/j.rmcr.2019.100983
Autor:
D.A. Hughes, G.M. Pastores
Gaucher's disease (GD) is an autosomal recessive lysosomal storage disorder caused by the deficiency of acid β -glucosidase and the resultant accumulation of its primary substrate glucosylceramide. The majority of patients do not have primary centra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ea3fe16a4975e2bbfccadd875112bb2
https://doi.org/10.1016/b978-0-12-385157-4.00100-7
https://doi.org/10.1016/b978-0-12-385157-4.00100-7
Autor:
H.A. Lau, G.M. Pastores
Niemann–Pick disease (NPD) encompasses at least three lysosomal storage disorders, all of which are inherited in an autosomal recessive manner. In NPD types A and B, the cause is a deficiency of acid sphingomyelinase (ASM), responsible for the hydr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c2ff5e030e4f9e0c8be149da9949ba7a
https://doi.org/10.1016/b978-0-12-385157-4.00102-0
https://doi.org/10.1016/b978-0-12-385157-4.00102-0
Autor:
G.M. Pastores, D.A. Hughes
The lysosomal storage disorders (LSD) are metabolic diseases, caused primarily by the deficiency of an enzyme or its cofactor and the tissue-specific accumulation of incompletely degraded substrates. The majority are associated with primary central n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::35d479c35c3904364c0f2ac015804122
https://doi.org/10.1016/b978-0-12-385157-4.00096-8
https://doi.org/10.1016/b978-0-12-385157-4.00096-8
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