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#17 - Inborn Errors of Metabolism

Author
Christopher Anghel
Published
Wed 14 Dec 2022
Episode Link
https://podcasters.spotify.com/pod/show/christopher-anghel/episodes/17---Inborn-Errors-of-Metabolism-e1s8asq

Q-BANK: https://www.patreon.com/highyieldfamilymedicine

Intro 0:35,

Galactosemia 1:41,

Hereditary fructose intolerance 3:42,

Essential fructosuria 4:26,

Glycogen storage diseases 4:48,

Period Acid Schiff and Diastase test (PAS-D) 6:02,

Von Gierke disease 5:18,

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

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