Metabolic Stroke: A Novel Presentation in a Child with Succinic Semialdehyde Dehydrogenase Deficiency

by Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya Valsa Sudhakar, Samuel Philip Oommen, Sumita Danda
Published 2020-01-01

Metabolic or ischemic stroke in succinic semi-aldehyde dehydrogenase deficiency due to the homozygous variant c. 1343 + 1_1343 + 3delGTAinsTT in ALDH5A1

by Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Maya Thomas, Sniya V Sudhakar, Samuel P Oommen, Sumita Danda
Published 2021-01-01

Attenuated form of glycine encephalopathy: An unusual cause of neurodevelopmental disorder

by Sangeetha Yoganathan, Rangan Srinivasaraghavan, Mahalakshmi Chandran, Lisa Kratz, Beena Koshy, Sniya Valsa Sudhakar, Gautham Arunachal, Maya Thomas, Sumita Danda
Published 2021-01-01

Guanidinoacetate methyltransferase (GAMT) deficiency, a cerebral creatine deficiency syndrome: A rare treatable metabolic disorder

by Sangeetha Yoganathan, Gautham Arunachal, Lisa Kratz, Mugil Varman, Sniya Valsa Sudhakar, Samuel Philip Oommen, Shikha Jain, Maya Thomas, Manimegalai Babuji
Published 2020-01-01

A liver-specific defect of Acyl-CoA degradation produces hyperammonemia, hypoglycemia and a distinct hepatic Acyl-CoA pattern.

by Nicolas Gauthier, Jiang Wei Wu, Shu Pei Wang, Pierre Allard, Orval A Mamer, Lawrence Sweetman, Ann B Moser, Lisa Kratz, Fernando Alvarez, Yves Robitaille, François Lépine, Grant A Mitchell
Published 2013-01-01