Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency

Autor: Pop, Ana, Smith, Desirée E.C., Kirby, Trevor, Walters, Dana, Gibson, K. Michael, Mahmoudi, Soufiane, van Dooren, Silvy J.M., Kanhai, Warsha A., Fernandez-Ojeda, Matilde R., Wever, Eric J.M., Koster, Janet, Waterham, Hans R., Grob, Bram, Roos, Birthe, Wamelink, Mirjam M.C., Chen, Justin, Natesan, Senthil, Salomons, Gajja S.

Publikováno v: In Molecular Genetics and Metabolism July 2020 130(3):172-178

IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria

Autor: Kranendijk, Martijn, Struys, Eduard A., van Schaftingen, Emile, Gibson, K. Michael, Kanhai, Warsha A., van der Knaap, Marjo S., Amiel, Jeanne, Buist, Neil R., Das, Anibh M., de Klerk, Johannis B., Feigenbaum, Annette S., Grange, Dorothy K., Hofstede, Flons C., Holme, Elisabeth, Kirk, Edwin P., Korman, Stanley H., Morava, Eva, Morris, Andrew, Smeitink, Jan, Sukhai, Rám N., Vallance, Hilary, Jakobs, Cornelis, Salomons, Gajja S.

Publikováno v: Science, 2010 Oct . 330(6002), 336-336.

Externí odkaz: https://www.jstor.org/stable/40931608

Identification of three novel pathogenic mutations in cystathionine beta-synthase gene of Pakistani intellectually disabled patients.

Autor: Wasim, Muhammad, Khan, Haq N., Ayesha, Hina, Iqbal, Mazhar, Tawab, Abdul, Irfan, Muhammad, Kanhai, Warsha, Goorden, Susanna M. I., Stroomer, Lida, Salomons, Gajja, Vaz, Frederic M., Karnebeek, Clara D. M. van, Awan, Fazli R.

Publikováno v: Journal of Pediatric Endocrinology & Metabolism; Mar2022, Vol. 35 Issue 3, p325-332, 8p

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

Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria

Autor: Nota, Benjamin, Struys, Eduard A., Pop, Ana, Jansen, Erwin E., Fernandez Ojeda, Matilde R., Kanhai, Warsha A., Kranendijk, Martijn, van Dooren, Silvy J.M., Bevova, Marianna R., Sistermans, Erik A., Nieuwint, Aggie W.M., Barth, Magalie, Ben-Omran, Tawfeg, Hoffmann, Georg F., de Lonlay, Pascale, McDonald, Marie T., Meberg, Alf, Muntau, Ania C., Nuoffer, Jean-Marc, Parini, Rossella, Read, Marie-Hélène, Renneberg, Axel, Santer, René, Strahleck, Thomas, van Schaftingen, Emile, van der Knaap, Marjo S., Jakobs, Cornelis, Salomons, Gajja S.

Publikováno v: In The American Journal of Human Genetics 4 April 2013 92(4):627-631