This is the final podcast in a three-part series on inborn errors of metabolism. Part 1 can be found here, and Part 2 here. This podcast reviews large molecule metabolic diseases including glycogen storage diseases, lysosomal and peroxisomal diseases and mucopolysaccharidoses. This episode was written by Dr. Dustin Jacobson, a 2nd year pediatrics resident from the University of Toronto and Dr.
This podcast is the second in a three-part series on inborn errors of metabolism. Part 1 can be found here, and Part 3 can be found here. This podcast reviews a wide range of small molecule diseases including amino and organic acidemias, urea cycle disorders, fatty acid oxidation defects, carbohydrate metabolism defects, mitochondrial oxidative phosphorylation disorders, purine and pyrimidine metabolism disorders and pyruvate metabolism disorders.
This podcast is the first in a three-part series on inborn errors of metabolism. Part 2 can be found here and the Part 3 can be found here. This podcast develops a general approach to inborn errors of metabolism, reviewing basic epidemiology, presentations, and inital investigations and management. This episode was written by Dr. Dustin Jacobson, a 2nd year pediatrics resident from the University of Toronto and Dr.
This podcast is an approach to diagnosis and management of FASD, Fetal Alcohol Spectrum Disorder. This podcast was written by Ying Ling, a medical student at the University of Alberta with the help of Dr. Gail Andrew. Dr. Andrew is a professor in the Department of Pediatrics and the medical director of the FASD Clinical and Research Services at the Glenrose Rehabilitation Hospital.
This episode gives an overview of the diagnostic criteria, clinical features, and management strategies for patients with Turner Syndrome. This podcast was written by Rhea D’Costa and Dr. Mary Ann Thomas. Rhea is a second year medical student at McMaster University. Dr. Thomas is an assistant professor with the Department of Medical Genetics at the University of Calgary.
This episode covers an approach to the types, diagnosis, features, and management of Down Syndrome. This podcast was written by Grayson Beecher and Dr. Melanie Lewis. Grayson is a medical student at the University of Alberta. Dr. Lewis is an Associate Professor in the Department of Pediatrics, Associate Dean of Learner Advocacy & Wellness at the University of Alberta, and the Medical Director of the Down syndrome Medical Clinic in Edmonton, Alberta.