Fiona Gardiner

The phenotypic spectrum of X-linked, infantile onset ALG13-related developmental and epileptic encephalopathy

Alexandre N Datta, Nadia Bahi-Buisson, Thierry Bienvenu, Sarah E Buerki, Fiona Gardiner, J Helen Cross, Benedicte Heron, Anna Kaminska, Christian M Korff, Anne Lepine, Gaetan Lesca, Amy McTague, Heather C Mefford, Cyrill Mignot, Matthieu Milh, Amelie Piton, Ronit M Pressler, Susanne Ruf, Lynette G Sadleir, Anne de Saint Martin, et al.

Journal article  |  2021  |  EPILEPSIA

OBJECTIVE: Asparagine-linked glycosylation 13 (ALG13) deficiencies have been repeatedly described in the literature with the clini..

Predominant and novel de novo variants in 29 individuals withALG13deficiency: Clinical description, biomarker status, biochemical analysis, and treatment suggestions

Bobby G Ng, Erik A Eklund, Sergey A Shiryaev, Yin Y Dong, Mary-Alice Abbott, Carla Asteggiano, Michael J Bamshad, Eileen Barr, Jonathan A Bernstein, Shabeed Chelakkadan, John Christodoulou, Wendy K Chung, Michael A Ciliberto, Janice Cousin, Fiona Gardiner, Suman Ghosh, William D Graf, Stephanie Grunewald, Katherine Hammond, Natalie S Hauser, et al.

Journal article  |  2020  |  JOURNAL OF INHERITED METABOLIC DISEASE

Asparagine-linked glycosylation 13 homolog (ALG13) encodes a nonredundant, highly conserved, X-linked uridine diphosphate (UDP)-N-..