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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
Clinical Genetics, ISSN 0009-9163, 03/2016, Volume 89, Issue 3, pp. 275 - 284
Journal Article
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 2011, Volume 155, Issue 1, pp. 22 - 32
Journal Article
Journal Article
Fetal & Pediatric Pathology, ISSN 1551-3815, 1991, Volume 11, Issue 3, pp. 487 - 491
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 12/1988, Volume 31, Issue 4, pp. 887 - 901
We describe a 19‐year‐old white male with juvenile galactosialidosis. He presented with hip arthralgia and was found to have facial “coarseness,” corneal... 
β‐galactosidase | dysostosis multiplex | α‐neuraminidase | spondyloepiphyseal displasia | Neuraminidase - deficiency | Sialic Acids - urine | Galactosidases - deficiency | Humans | Skin - ultrastructure | Adult | Male | Lymphocytes - ultrastructure | Bone and Bones - abnormalities | N-Acetylneuraminic Acid | beta-Galactosidase - deficiency
Journal Article
American Journal of Medical Genetics, ISSN 0148-7299, 11/1988, Volume 31, Issue 3, pp. 655 - 661
We report on a patient with a de novo chromosome abnormality del(7)(q21.1q22). The cells of this patient were used to determine the assignment of the gene for... 
gene assignment | enzyme activity | chromosome aberration | Chromosome Deletion | Chromosomes, Human, Pair 7 - ultrastructure | DNA Probes | Glucuronidase - genetics | Cystic Fibrosis - genetics | Humans | Karyotyping | Glucuronidase - metabolism | Female | Infant | Chromosome Mapping
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2016, Volume 99, Issue 5, pp. 1005 - 1014
Journal Article