Zobrazeno 1 - 9
of 9
pro vyhledávání: '"Scott Kerns"'
Publikováno v:
Molecular Genetics and Metabolism. 129:S86
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::11726b7ebea1b361fc0ac74bb6bca754
https://doi.org/10.1016/j.ymgme.2019.11.214
https://doi.org/10.1016/j.ymgme.2019.11.214
Autor:
Angela Bertrame, Nancy M. Dahms, Timothy M. Miller, Scott Kerns, Linas Padegimas, Brian M. Kevany
Publikováno v:
Molecular Genetics and Metabolism. 129:S87
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::be8895382fe7ab7acf3fba9884023731
https://doi.org/10.1016/j.ymgme.2019.11.216
https://doi.org/10.1016/j.ymgme.2019.11.216
Publikováno v:
Molecular Genetics and Metabolism. 129:S87
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::25dc7e46079c8b9952551090aad0b5d1
https://doi.org/10.1016/j.ymgme.2019.11.215
https://doi.org/10.1016/j.ymgme.2019.11.215
Autor:
Tammy Kielian, Linas Padegimas, Timothy J. Miller, Rachel W. Fallet, M. Arnold, Amy Aldrich, Scott Kerns
Publikováno v:
Molecular Genetics and Metabolism. 126:S82-S83
Juvenile Neuronal Ceroid Lipofuscinosis (JNCL) is a lysosomal storage disease caused by an autosomal recessively inherited mutation in the CLN3 gene. JNCL is a progressive neurodegenerative disorder in which the central nervous system (CNS) is greatl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::00bfd1f122a6cf11f32b0110b27fde61
https://doi.org/10.1016/j.ymgme.2018.12.202
https://doi.org/10.1016/j.ymgme.2018.12.202
Publikováno v:
Molecular Genetics and Metabolism. 126:S134-S135
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9e5478b427935ceb04431c9524973ce4
https://doi.org/10.1016/j.ymgme.2018.12.346
https://doi.org/10.1016/j.ymgme.2018.12.346
Publikováno v:
Molecular Genetics and Metabolism. 126:S83
Fabry disease is an X-linked lysosomal storage disorder caused by a deficiency in alpha-galactosidase A (GLA) activity that results in the accumulation of the glycolipid products, globotriaosylceramide (Gb3) and lyso-Gb3 in the lysosome. Disease mani
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9301549e35bce7e4ce59cd1c1165c5d5
https://doi.org/10.1016/j.ymgme.2018.12.203
https://doi.org/10.1016/j.ymgme.2018.12.203
Publikováno v:
Molecular Genetics and Metabolism. 123:S37
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cd9a1978d2a9ef28b2342b4c39cb67e5
https://doi.org/10.1016/j.ymgme.2017.12.076
https://doi.org/10.1016/j.ymgme.2017.12.076
Autor:
J. Daum, Kaye Spratt, Megan E. Bosch, Jessica Odvody, Rachel W. Fallet, Tammy Kielian, Kari Henson, Scott Kerns
Publikováno v:
Molecular Genetics and Metabolism. 123:S77
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5db00b0b3a019b0387f7558276bc1bc4
https://doi.org/10.1016/j.ymgme.2017.12.194
https://doi.org/10.1016/j.ymgme.2017.12.194
Autor:
Scott Kerns, Eduard E. de Lange, Robert E. Fechner, Chris Cimmino, Thomas L. Pope, Theodore E. Keats
Publikováno v:
Skeletal radiology. 15(8)
Intervertebral disc calcification can be secondary to a variety of pathologic processes including some of the arthritidies, metabolic diseases, and trauma. The annulus fibrosus is the most commonly calcified component and may mimic vertebral body fra
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::47badba2d9dbb9029bfb41e1a1f73969
https://pubmed.ncbi.nlm.nih.gov/3810180
https://pubmed.ncbi.nlm.nih.gov/3810180