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Med Gen Section 2

This class was created by Brainscape user Shay Guetz. Visit their profile to learn more about the creator.

By: Shay Guetz
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Decks in this class (13)

Confirmatory Testing of Metabolic Diseases and NBS
What is the asocarnitine profile ...,
What is the asocarnitine profile ...,
What is the asocarnitine profile ...
23  cards
Lysosomal Diseases
What are clinical manifestations ...,
What distinguishes lysosomal stor...,
How are lysosomal storage disease...
27  cards
Introduction to Inborn Errors of Metabolism
What can trigger episodes of acut...,
What cause hyperammonemia,
What are metabolic causes for ele...
10  cards
Congenital Disorders of Glycosylation
Name the two types of glycosylation,
What is n glycosylation,
What are the functions of n glyca...
21  cards
Peroxisomal Disorders
What physiological functions of t...,
What are peroxisomal biosynthesis...,
What is zellweger syndrome
14  cards
Glycogen Storage Diseases and Inborn Errors of Galactose and Fructose
What defects of liver glycogenesi...,
What defects of liver glycogenesi...,
What defects of muscle and heart ...
46  cards
Aminoacidopathies, Organic Acidemias, and Defects of Urea Cycle
Name the aminoacidopathies,
Name the organic acidemias discus...,
Name the urea cycle defects
37  cards
Gaucher Disease
What are the clinical manifestati...,
What causes gaucher disease,
What is the clinical spectrum of ...
17  cards
Fabry Disease
Describe fabry disease in general,
Describe fabry type 1 classical p...,
What are the major sites of early...
13  cards
The Porphyrias
Which acute hepatic porphyrias ar...,
Which acute hepatic porphyrias ar...,
What do patients with acute hepat...
16  cards
Cystic Fibrosis
What classes of cf mutations are ...,
What classes of cf mutations are ...,
What do class i cf mutations impact
16  cards
Genetic Immunodeficiency Disorders
When should you consider a pi,
How do pis normally manifest in g...,
What are the categories of immuno...
19  cards
Fatty Acid Oxidation/ Mitochondrial Diseases
Describe the chain length classif...,
How do fatty acids enter the mito...,
Why is beta oxidation important
38  cards

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Med Gen Section 2

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