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ISRAEL MEDICAL ASSOCIATION JOURNAL, ISSN 1565-1088, 04/2019, Volume 21, Issue 4, pp. 286 - 287
Journal Article
Nature Genetics, ISSN 1061-4036, 01/2015, Volume 47, Issue 1, pp. 39 - 46
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Epilepsia, ISSN 0013-9580, 07/2014, Volume 55, Issue 7, pp. 994 - 1000
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by Crow, Y.J and Chase, D.S and Schmidt, J.L and Szynkiewicz, M and Forte, G.M.A and Gornall, H.L and Oojageer, A and Anderson, B and Pizzino, A and Helman, G and Abdel-Hamid, M.S and Abdel-Salam, G.M and Ackroyd, S and Aeby, A and Agosta, G and Albin, C and Allon-Shalev, S and Arellano, M and Ariaudo, G and Aswani, V and Babul-Hirji, R and Baildam, E.M and Bahi-Buisson, N and Bailey, K.M and Barnerias, C and Barth, M and Battini, R and Beresford, M.W and Bernard, G and Bianchi, M and de Villemeur, T.B and Blair, E.M and Bloom, M and Burlina, A.B and Carpanelli, M.L and Carvalho, D.R and Castro-Gago, M and Cavallini, A and Cereda, C and Chandler, K.E and Chitayat, D.A and Collins, A.E and Corcoles, C.S and Cordeiro, N.J.V and Crichiutti, G and Dabydeen, L and Dale, R.C and D'Arrigo, S and De Goede, C.G.E.L and de Laet, C and De Waele, L.M.H and Denzler, I and Desguerre, I and Devriendt, K and Di Rocco, M and Fahey, M.C and Fazzi, E and Ferrie, C.D and Figueiredo, A and Gener, B and Goizet, C and Gowrinathan, N.R and Gowrishankar, K and Hanrahan, D and Isidor, B and Kara, L and Khan, N and King, M.D and Kirk, E.P and Kumar, R and Lagae, L and Lanieu, P and Lauffer, H and Laugel, V and La Piana, R and Lim, M.J and Lin, J.P.S.M and Linnankivi, T and Mackay, M.T and Marom, D.R and Lourenco, C.M and McKee, S.A and Moroni, I and Morton, J.E.V and Moutard, M.L and Murray, K and Nabbout, R and Nampoothiri, S and Nunez-Enamorado, N and Oades, P.J and Olivieri, I and Ostergaard, J.R and Perez-Duenas, B and Prendiville, J.S and Ramesh, V and Rasmussen, M and Regal, L and Ricci, F and Rio, M and Knaap, M and ...
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2015, Volume 167, Issue 2, pp. 296 - 312
Journal Article
European journal of human genetics : EJHG, ISSN 1018-4813, 06/2019, Volume 27, Issue 11, pp. 1668 - 1676
Sphingolipidoses are monogenic lipid storage diseases caused by variants in enzymes of lipid synthesis and metabolism. We describe an autosomal recessive... 
Disease | Leukodystrophy | Epilepsy | Amino acids | Desaturase | Sphingolipidosis | Corpus callosum | Chromosome 1 | Hereditary diseases | Sphingosine 1-phosphate | Storage diseases | Neurological diseases | Dihydrosphingosine | Magnetic resonance imaging | Scoliosis | Evolutionary conservation | Isoforms | Ceramide | Lipid metabolism | Gene mapping | Neurological disorders
Journal Article
Journal Article
Epilepsia, ISSN 0013-9580, 07/2013, Volume 54, Issue 7, pp. 1262 - 1269
Journal Article
Science, ISSN 0036-8075, 3/2004, Volume 303, Issue 5666, pp. 2033 - 2036
Journal Article
Annals of Neurology, ISSN 0364-5134, 05/2017, Volume 81, Issue 5, pp. 677 - 689
Journal Article
The Journal of Allergy and Clinical Immunology: In Practice, ISSN 2213-2198, 07/2018, Volume 6, Issue 4, pp. 1238 - 1242
Journal Article
Metabolic Brain Disease, ISSN 0885-7490, 12/2017, Volume 32, Issue 6, pp. 2131 - 2137
Journal Article