#17 - Inborn Errors of Metabolism
High Yield Family Medicine - A podcast by Christopher Anghel
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Intro (0:35),
Galactosemia (1:41),
Hereditary fructose intolerance (3:42),
Essential fructosuria (4:26),
Glycogen storage diseases (4:48),
Von Gierke disease (5:18),
Period Acid Schiff and Diastase test (PAS-D) (6:02),
Pompe disease (6:38),
Cori disease (7:46),
Andersen disease (8:21),
McArdle disease (9:01),
Phenylketonuria (11:10),
Alkaptonuria (13:01),
Maple syrup urine disease (14:19),
Homocystinuria (16:01),
Urea cycle disorders (17:40),
Fatty acid metabolism disorders (19:14),
Lysosomal storage diseases (20:30),
Tay-Sachs disease (20:58),
Niemann-Pick disease (22:07),
Gaucher disease (22:44),
Metachromatic leukodystrophy (23:39),
Krabbe disease (24:41),
Hurler disease and Hunter disease (25:41),
Fabry disease (26:33),
Lesch-Nyhan syndrome (27:31),
Adenosine deaminase deficiency (28:20),
Practice questions (28:47)
