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Autosomal Recessive Disorders and Lysosomal storage diseases
Autosomal Recessive Disorders and Lysosomal storage diseases
15
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3rd Grade
05/19/2012

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Cards

Term
Definition
Albinism
Term
Definition
ARPKD
Term
Defect in CFTR gene
Definition
cystic fibrosis


Treatment: N-acetylcysteine
Term
Definition
glycogen storage diseases
Term
Definition
PKU
Term
Definition
sickle cell
Term
Definition
thalassemias
Term
Definition
mucopolysaccharidoses
Term
Causes infertility, bronchiectasis, meconium ileus, fat soluable vitamin deficiency
Definition
Cystic fibrosis


Treatment: N-acetylcysteine
Commonly infected with pseudomonas
Term
Diagnosed via chloride sweat test >60mg/ml
Definition
Cystic fibrosis

Treatment: N-acetylcysteine
Term
Definition
Lysosomal storage diseases
Term
Lysosomal storage disease that results in renal disease
Definition
Fabry's disease
Term
hepatosplenomegaly

Macrophages look like crumpled tissue paper
Definition
Gaucher
Term
Lysosomal storage disease Results in early death
Definition
Tay sach's
Neiman pick
Krabb
Term
Which lysosomal storage disease is a demyelinating disease?
Definition
Metachromatic leukodystrophy
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