Nine patients with a microdeletion 15q11.2 between breakpoints 1 and 2 of the Prader–Willi critical region, possibly associated with behavioural disturbances

Autor: Doornbos, Marianne, Sikkema-Raddatz, Birgit, Ruijvenkamp, Claudia A.L., Dijkhuizen, Trijnie, Bijlsma, Emilia K., Gijsbers, Antoinet C.J., Hilhorst-Hofstee, Yvonne, Hordijk, Roel, Verbruggen, Krijn T., Kerstjens-Frederikse, W.S. (Mieke), van Essen, Ton, Kok, Klaas, van Silfhout, Anneke T., Breuning, Martijn, van Ravenswaaij-Arts, Conny M.A.

Publikováno v: In European Journal of Medical Genetics 2009 52(2):108-115

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity

Autor: Mendes, Marisa I., Smith, Desiree E. C., Pop, Ana, Lennertz, Pascal, Ojeda, Matilde R. Fernandez, Kanhai, Warsha A., van Dooren, Silvy J. M., Anikster, Yair, Baric, Ivo, Boelen, Caroline, Campistol, Jaime, de Boer, Lonneke, Kariminejad, Ariana, Kayserili, Hulya, Roubertie, Agathe, Verbruggen, Krijn T., Vianey-Saban, Christine, Williams, Monique, Salomons, Gajja S.

Publikováno v: Human Mutation, 38, 5, pp. 524-531
HUMAN MUTATION
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Human Mutation
Human Mutation, Wiley, 2017, 38 (5), pp.524-531. ⟨10.1002/humu.23181⟩
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Human Mutation, 38, 524-531
Human Mutation, 38(5), 524-531. Wiley-Liss Inc.
Mendes, M I, Smith, D E C, Pop, A, Lennertz, P, Fernandez Ojeda, M R, Kanhai, W A, van Dooren, S J M, Anikster, Y, Barić, I, Boelen, C, Campistol, J, de Boer, L, Kariminejad, A, Kayserili, H, Roubertie, A, Verbruggen, K T, Vianey-Saban, C, Williams, M & Salomons, G S 2017, ' Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity ', Human Mutation, vol. 38, no. 5, pp. 524-531 . https://doi.org/10.1002/humu.23181
Human Mutation, 38(5), 524-531. Wiley

Contains fulltext : 182871.pdf (Publisher’s version ) (Open Access) We describe 14 patients with 12 novel missense mutations in ASPA, the gene causing Canavan disease (CD). We developed a method to study the effect of these 12 variants on the funct

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::109084213a0a87d3f4e3cca2169a997c
https://hdl.handle.net/2066/182871

Successful treatment of a guanidinoacetate methyltransferase deficient patient: Findings with relevance to treatment strategy and pathophysiology

Autor: Verbruggen, Krijn T., Sijens, Paul E., Schulze, Andreas, Lunsing, Roelineke J., Jakobs, Cornelis, Salomons, Gajja S., van Spronsen, Francjan J.

Publikováno v: In Molecular Genetics and Metabolism 2007 91(3):294-296

Clinically Distinct Phenotypes of Canavan Disease Correlate with Residual Aspartoacylase Enzyme Activity.

Autor: Mendes MI; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands., Smith DE; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands., Pop A; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands., Lennertz P; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands., Fernandez Ojeda MR; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands., Kanhai WA; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands., van Dooren SJ; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands., Anikster Y; Edmond and Lily Safra Children's Hospital, Sheba Medical Center and Sackler School of Medicine, Tel Aviv University, Israel., Barić I; Department of Pediatrics, University Hospital Center Zagreb & University of Zagreb, School of Medicine, Zagreb, Croatia., Boelen C; Department of Pediatrics, Admiraal De Ruyter Ziekenhuis, Goes, Zeeland, The Netherlands., Campistol J; Neurology Department, CIBERER ISCIII, Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain., de Boer L; Department of pediatrics, metabolic diseases, Radboud University Medical Center, Nijmegen, The Netherlands., Kariminejad A; Kariminejad-Najmabadi Pathology & Genetics Center, Tehran, Iran., Kayserili H; Medical Genetics Department, Koç University School of Medicine (KUSOM), Istanbul, Turkey., Roubertie A; Département de Neuropédiatrie, Hopital Gui de Chauliac, Montpellier, Languedoc-Roussillon, France.; INSERM U1051, Institut des Neurosciences de Montpellier, Montpellier, France., Verbruggen KT; Beatrix Children's Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Vianey-Saban C; Centre de Biologie et de Pathologie Est CHU de Lyon, Service Maladies Héréditaires du Métabolisme et Dépistage Néonatal, Lyon, France., Williams M; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands., Salomons GS; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center, Amsterdam Neuroscience, Amsterdam, The Netherlands.

Publikováno v: Human mutation [Hum Mutat] 2017 May; Vol. 38 (5), pp. 524-531. Date of Electronic Publication: 2017 Feb 14.