Novel GAA Variants and Mosaicism in Pompe Disease Identified by Extended Analyses of Patients with an Incomplete DNA Diagnosis

Autor: Alessandro Iuliano, Johanna M. P. Van den Hout, Stijn L.M. in 't Groen, Lies H. Hoefsloot, W.W.M. Pim Pijnappel, David Cassiman, Hannie Douben, Ans T. van der Ploeg, Atze J. Bergsma, Jasper J. Saris, Galhana M. Somers-Bolman, Miguel-Ángel Barba Romero, Douglas O. S. de Faria, Peter Witters, T. Dijkhuizen, Annelies de Klein

Publikováno v: Molecular Therapy-Methods and Clinical Development, 17, 337-348. Cell Press
Molecular Therapy: Methods & Clinical Development, Vol 17, Iss, Pp 337-348 (2020)
Molecular therapy-Methods & clinical development, 17, 337-348. CELL PRESS

Pompe disease is a metabolic disorder caused by a deficiency of the glycogen-hydrolyzing lysosomal enzyme acid α-glucosidase (GAA), which leads to progressive muscle wasting. This autosomal-recessive disorder is the result of disease-associated vari

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7ecb78b1b70d26d2f28c85fc9157510
https://research.rug.nl/en/publications/02aef7b6-9cb2-463a-9307-f5565e370da8

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Contents Vol. 4, 2013

Autor: B. Leheup, V. David, J. Kaplan, L. Pasquier, D. Jonas, A. Laquerrière, C. Bendavid, E. Baselga, J.B. Mulliken, Augusto Rojas-Martinez, O. Patat, Juliana F. Mazzeu, L.M. Boon, R.M. Candido Sandri, I. Gicquel, A. Bygum, Thomas Haaf, M. Vikkula, Lizeth Martínez-Jacobo, Martin Poot, E. Burgdörfer, J. Tantau, C. Dubourg, N. Corsten-Janssen, Satz Mengensatzproduktion, Druck Reinhardt Druck Basel, H. Dornelles-Wawruk, Ana Cristina Victorino Krepischi, L.A. Ribeiro-Bicudo, C. van der Vleuten, M. Beri, P. Loget, P. Marcorelles, O. Bartsch, J.E. Chernos, S. Jaillard, S. Odent, C. Saucedo-Carrasco, A. Richieri-Costa, Carlos Córdova-Fletes, L. Ratié, Carla Rosenberg, F. Démurger, A. Ghalamkarpour, T. Dijkhuizen, C. Evain, J.P. van Tintelen, C.M.A. van Ravenswaaij-Arts, N. Chassaing, A. Irrthum, Aline Pic-Taylor, H.L. Nguyen, C. de Campos Legnaro, Rocio Ortiz-Lopez, M.S. Connelly, P. Brouillard, J.P.H. Wyse, C. Quelin, Fernando Rivas, A. Mendola, E. Fastré, U. Zechner, Iris Ferrari, D. Martin-Coignard, M.J. Schlögel, C. Fagerberg, H.P.N. Safatle, V. Dupé, D. Weise, R.B. Lowry, S. Mercier, I. Quere, B.F. Gamba, J. Lespinasse, M. Korenkov

Publikováno v: Molecular Syndromology. 4:I-IV

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::39e58559fdb767099a266176e06a754a
https://doi.org/10.1159/000347016

An 8.35 Mb overlapping interstitial deletion of 8q24 in two patients with coloboma, congenital heart defect, limb abnormalities, psychomotor retardation and convulsions

Autor: N. de Leeuw, Y. E. M. Thomasse, D. Olde Weghuis, G. J. van den Hoek, Carlo M. Marcelis, Joke B. G. M. Verheij, R. S. Rijlaarsdam, van Conny Ravenswaaij-Arts, S. A. de Munnik, Frederik G. Dikkers, T. Dijkhuizen

Publikováno v: European Journal of Medical Genetics, 52, 5, pp. 353-7
European Journal of Medical Genetics, 52, 353-7
European journal of medical genetics, 52(5), 353-357. ELSEVIER SCIENCE BV

Contains fulltext : 79985.pdf (Publisher’s version ) (Closed access) Chromosome analysis in two young patients with multiple congenital anomalies revealed a de novo interstitial deletion of 8q that has not been reported before. The deletions were o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f7f507bd03758b2a74e86d423622c89
https://pubmed.ncbi.nlm.nih.gov/19464398