Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Laura Cramp"'
Autor:
Jamie L. Fraser, Adeline Vanderver, Sandra Yang, Taeun Chang, Laura Cramp, Gilbert Vezina, Uta Lichter-Konecki, Kristina P. Cusmano-Ozog, Patroula Smpokou, Kimberly A. Chapman, Dina J. Zand
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 66-70 (2014)
We present a sibling pair with Leigh-like disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated a homozygous thiamine pyrophosphokinase (TPK) mutation. Initiation of high do
Externí odkaz:
https://doaj.org/article/8721ed92ba104616bb40317896b771f5
The Keto Cookbook is for those using the ketogenic diet to treat pediatric epilepsy and other neurologic conditions. Each of the 96 recipes for breakfast and brunch, appetizers and snacks, lunch, dinner, and sweets and treats, are compliant with the
Autor:
Kimberly A. Chapman, Laura Cramp, Dina J. Zand, Sandra Yang, Gilbert Vezina, Patroula Smpokou, Jamie L. Fraser, Taeun Chang, Adeline Vanderver, Kristina Cusmano-Ozog, Uta Lichter-Konecki
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 66-70 (2014)
Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 66-70 (2014)
We present a sibling pair with Leigh-like disease, progressive hypotonia, regression, and chronic encephalopathy. Whole exome sequencing in the younger sibling demonstrated a homozygous thiamine pyrophosphokinase (TPK) mutation. Initiation of high do
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0f14e72b7241992e9b52e873f2a98733
http://europepmc.org/articles/PMC5121315
http://europepmc.org/articles/PMC5121315
Publikováno v:
Pediatric Neurology. 50:26-30
Background Inpatient initiation of the ketogenic diet has historically involved fasting followed by gradual advancement of calories and/or diet ratio. Complications during this initiation period are common. We sought to determine if the initiation of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d15bea6a96da76db45a4b117eaf2a94
https://doi.org/10.1016/j.pediatrneurol.2013.08.006
https://doi.org/10.1016/j.pediatrneurol.2013.08.006