This class was created by Brainscape user Dena Winchester. Visit their profile to learn more about the creator.
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Dena Winchester
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Decks in this class (13)
Glycogen Storage Diseases and Inborn Errors of Galactose and Fructose Metabolism
Gsd i symptoms,
Gsd 1b symptoms,
Gsd i complications
33
cards
Inborn Errors of Galactose and Fructose Metabolism
Galt deficiency neonatal symptoms...,
Galactosemia consequences,
Galactosemia suspected what to do
13
cards
Aminoacidopathies
Classic pku treated vs untreated,
Treatment of pku,
Maternal pku syndrome
15
cards
Organic acidemias
Typical presentation of organic a...,
Methylmalonic acidemia,
Methylmalonic acidemia complications
14
cards
Urea Cycle Defects
Clinical presentation of neonatal...,
Differential diagnosis of letharg...,
Urea cycle defects treatment
6
cards
Lysosomal Storage Disorders
70 lysosomal storage disorders ge...,
How are lsds different from other...,
Common lsd clinical manifestations
34
cards
Mitochondrial Diseases
Kearns sayre syndrome kss main sy...,
Pearson syndrome,
Progressive external opthalmoplegia
9
cards
Fatty acid oxidation
3 steps of fatty acid beta oxidation,
Carnitine transporter defectcarni...,
Carnitine transporter defect diag...
13
cards
Gaucher disease
N370s,
Type 1 gaucher disease overview,
Type 1 gaucher disease symptoms
13
cards
Porphyrias
Primary features of acute attacks,
Diagnostic testing options for ac...,
Common misdiagnoses of porphyrias
17
cards
Some boring details that are probably important
0
cards
Immunodeficiency disorders
Antibody production defects prese...,
X linked ammunoglobulinemia xla,
Common variable immunodeficiency
14
cards
Fabry Disease
Type 1 fabry disease overview,
Type 1 fabry phenotype,
Major sites of gl 3 accumulation
4
cards
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MedGen 2
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