Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Mary-Anne Leung"'
Autor:
Charlie Fairhurst, Norberto Guelbert, Renée Shediac, Szilard Kiss, Lenora Lehwald, Ruth Williams, Martin Blohm, Andrea West, Jessica L. Cohen-Pfeffer, Angela Schulz, John A. Lawson, Meral Topçu, Annamaria Kofler, Margie Frazier, Svetlana Mikhaylova, Emily de los Reyes, Jonathan W. Mink, Nicola Specchio, Kristen Drago, Miriam Nickel, Boris Zernikow, Heather R. Adams, Jonas Denecke, Mary Anne Leung, Katherine B. Sims, Ina von Löbbecke
Publikováno v:
Pediatric Neurology. 69:102-112
CLN2 disease (neuronal ceroid lipofuscinosis type 2) is a rare, autosomal recessive, pediatric-onset, rapidly progressive neurodegenerative lysosomal storage disorder caused by tripeptidyl peptidase 1 (TPP1) enzyme deficiency, and is characterized by
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bb32f194d9c6ad82162bbc643d3cb3f7
https://doi.org/10.1016/j.pediatrneurol.2017.01.034
https://doi.org/10.1016/j.pediatrneurol.2017.01.034
Autor:
Adam Frankish, Josemir W. Sander, Ruth Williams, Sanjay M. Sisodiya, Costin Leu, Mary-Anne Leung, J. Helen Cross, Natasha E. Schoeler, Ingrid E. Scheffer, Mark T Mackay, Simona Balestrini, Charles A. Steward, Jonathan M. Mudge
Publikováno v:
Epilepsia
Summary Objective With the exception of specific metabolic disorders, predictors of response to ketogenic dietary therapies (KDTs) are unknown. We aimed to determine whether common variation across the genome influences the response to KDT for epilep
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ad53a41ded3fc1e6f90f170d02a3e1b
https://pubmed.ncbi.nlm.nih.gov/30009487
https://pubmed.ncbi.nlm.nih.gov/30009487
Autor:
Angela Schulz, Svetlana Mikhailova, Lenora Lehwald, Charlie Fairhurst, Renée Shediac, Ruth Williams, Szilard Kiss, Jessica L. Cohen-Pfeffer, Heather R. Adams, Meral Topçu, Jonas Denecke, Martin Blohm, Annamaria Kofler, Ina von Löbbecke, Margie Frazier, Norberto Guelbert, Mary-Anne Leung, Katherine B. Sims, Emily de los Reyes, Jonathan W. Mink, John A. Lawson, Andrea West, Miriam Nickel, Nicola Specchio, Kristen Drago
Publikováno v:
Molecular Genetics and Metabolism. 117:S103-S104
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::cb9c5becf886ece6ddadcdaa554c86ca
https://doi.org/10.1016/j.ymgme.2015.12.432
https://doi.org/10.1016/j.ymgme.2015.12.432
Autor:
Mary‐Anne Leung, Bridget Lambert
Publikováno v:
Dietary Treatment of Epilepsy: Practical Implementation of Ketogenic Therapy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::0040207cd4d43ab324e1594790d6a7a8
https://doi.org/10.1002/9781118702772.ch7
https://doi.org/10.1002/9781118702772.ch7
Publikováno v:
Dietary Treatment of Epilepsy: Practical Implementation of Ketogenic Therapy
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5395e1e794ffaf823cf4007e99e0f572
https://doi.org/10.1002/9781118702772.ch10
https://doi.org/10.1002/9781118702772.ch10