Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

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

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

International practices in the dietary management of fructose 1-6 biphosphatase deficiency

Autor: U. Meyer, R. Pretese, Abhijit Ricky Pal, G. Caine, E. Sjoqvist, A. Dianin, Laurie Bernstein, R. Akroyd, M. van Rijn, Sharon Evans, M. Ziadlou, I. L. Kok, C. Timmer, E. Megdad, T.A.M. van den Hurk, G. Gugelmo, Y. Atik Altınok, Anita MacDonald, Majid Alfadhel, J. Serrano-Nieto, R. B. Oliveira, Sandrine Dubois, Inderdip Hunjan, Lucy White, Marjorie Dixon, S. Rosenbaum-Fabian, A. Pozzoli, E. Drogari, Alex Pinto, Carina Heidenborg, Barbara Cochrane, Júlio César Rocha, S. Delaunay, A. Liguori, E. Cameron, Joanna Gribben, R. Carruthers, S.M. Bernabei, D. Mayr, B. Kumru, G. Bruni, F. de Boer, Anne Daly, H. Zweers

Publikováno v: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, 13(1). BioMed Central
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-6 (2018)
Orphanet Journal of Rare Diseases, 13,
Orphanet Journal of Rare Diseases, 13, pp.
Orphanet journal of rare diseases, 13(1). BioMed Central

WOS: 000423688500002
PubMed ID: 29370874
Background: In fructose 1,6 bisphosphatase (FBPase) deficiency, management aims to prevent hypoglycaemia and lactic acidosis by avoiding prolonged fasting, particularly during febrile illness. Althou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e306cd9cd351d24ee56e05a22264debb
https://dspace.library.uu.nl/handle/1874/375211

Pseudomonas oryzihabitans Infected Total Hip Arthroplasty

Autor: Panagopoulos, G.N. Megaloikonomos, P.D. Liontos, M. Giannitsioti, E. Drogari-Apiranthitou, M. Mavrogenis, A.F. Kontogeorgakos, V.

Pseudomonas oryzihabitans is a saprophytic gram-negative microorganism usually found in damp environments, only occasionally responsible for human pathology. Infection mainly occurs in malnourished, immunocompromised individuals with indwelling cathe

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::da72cd8b0e20156651c1e846aa6835ea
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3100865

Development of a universal chemiluminometric genotyping method for high-throughput detection of 7 LDLR gene mutations in greek population

Autor: Glynou, K. Laios, E. Drogari, E. Tsaoussis, V.

Objectives: Familial hypercholesterolemia (FH) is caused by mutations in the LDL receptor (LDLR) gene. We report the application of a universal method with high allele discrimination properties to the simultaneous genotyping of 7 LDLR mutations in Gr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::012bccbe676eab96f89910ae8a343514
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3095635

Analysis of LDLR mutations in familial hypercholesterolemia patients in Greece by use of the NanoChip® Microelectronic Array Technology

Autor: Laios, E. Drogari, E.

Background: Three mutations in the low density lipoprotein receptor (LDLR) gene account for 49% of familial hypercholesterolemia (FH) cases in Greece. Methods: We used the microelectronic array technology of the NanoChip® Molecular Biology Workstati

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______2127::a22fe818a3ee5bc5a3904b9994cff7df
https://pergamos.lib.uoa.gr/uoa/dl/object/uoadl:3095536