Niemann-Pick C1 Disease Gene: Homology to Mediators of Cholesterol Homeostasis

Autor: Carstea, Eugene D., Morris, Jill A., Coleman, Katherine G., Loftus, Stacie K., Zhang, Dana, Cummings, Christiano, Gu, Jessie, Rosenfeld, Melissa A., Pavan, William J., Krizman, David B., Nagle, James, Polymeropoulos, Mihail H., Sturley, Stephen L., Ioannou, Yiannis A., Higgins, Maureen E., Comly, Marcella, Cooney, Adele, Brown, Anthony, Kaneski, Christine R., Blanchette-Mackie, E. Joan, Dwyer, Nancy K., Neufeld, Edward B., Chang, Ta-Yuan, Liscum, Laura, Strauss, Jerome F., Ohno, Kousaku, Zeigler, Marsha, Carmi, Rivka, Sokol, Jacob, Markie, David, O'Neill, Raymond R., van Diggelen, O. P., Elleder, Milan, Patterson, Marc C., Brady, Roscoe O., Vanier, Marie T., Pentchev, Peter G., Tagle, Danilo A.

Publikováno v: Science, 1997 Jul 01. 277(5323), 228-231.

Externí odkaz: https://www.jstor.org/stable/2893572

Chapter 3: NCL diagnosis and algorithms

Autor: Kohlschütter, A., Williams, R. E., Goebel, H. H., Mole, S. E., Boustany, R. M., van Diggelen, O. P., Elleder, M., Mink, J. W., Niezen de Boer, R., Ribeiro, M. G., Simonati, Alessandro

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______1943::9dbfc6c0aacf87247b8535ca172db7e6
http://hdl.handle.net/11562/364161

Unraveling a history of overlap: A phenotypic comparison of RBCK1-related disease and glycogen storage disease type IV.

Autor: Crane HM; Master of Science in Genetic Counseling Program, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Asher S; Penn Medicine, Department of Medicine, Division of Translational Medicine and Human Genetics, Philadelphia, Pennsylvania, USA., Conway L; Master of Science in Genetic Counseling Program, University of Pennsylvania, Philadelphia, Pennsylvania, USA., Drivas TG; Penn Medicine, Department of Medicine, Division of Translational Medicine and Human Genetics, Philadelphia, Pennsylvania, USA., Kallish S; Penn Medicine, Department of Medicine, Division of Translational Medicine and Human Genetics, Philadelphia, Pennsylvania, USA.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jul; Vol. 194 (7), pp. e63574. Date of Electronic Publication: 2024 Mar 04.

Late-Onset Globoid Cell Leucodystrophy (Krabbe's Disease).

Autor: Loonen, M. C. B., Van Diggelen, O. P., Janse, H. C., Kleijer, W. J., Arts, W. F. M.

Publikováno v: Neuropediatrics; 1985, Vol. 16 Issue 3, p137-142, 6p

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