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48 Cards in this Set
- Front
- Back
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Peroxisomes
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Zellweger syndrome
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a-1,6-glucosidase
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Cori's - GSD type III
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a1-antitrypsin
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Panacinar emphysema
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a-Galactosidase A
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Fabry's
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a-ketoacid dehydrogenase
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Maple syrup urine
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a-L-Iduronidase
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Hurler's
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11-b-hydroxylase deficiency
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Congenital adrenal hyperplasia:
- decreased Aldosterone - decreased Cortisol - Increased Androgens (DHEA) (Increased BP - weak mineralcorticoid works) |
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17-a-hydroxylase deficiency
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Congenital adrenal hyperplasia:
- Increased Aldosterone - decreased Cortisol - decreased Androgens (DHEA) |
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21-hydroxylase deficiency
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Congenital adrenal hyperplasia:
- decreased Aldosterone - decreased Cortisol - Increased Androgens (DHEA) (decreased BP) |
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5a-reductase deficiency
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causes a lack of DHT
(& increase in Testosterone) |
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Adenosine deaminase deficiency
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Severe Combined Immunodeficiency
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Cystathionine synthetase
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Homocystinuria
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Galactose-1-phos uridyl transferase
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Galactosemia
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Glucocerebrosidase
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Gauchers
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Glucose-6-phosphatase
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Von Gierke's - GSD type I
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Hexosaminidase
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Tay-Sachs
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HGPRTase
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Lesch-Nyhan
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Homogentisic acid oxidase
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Alkaptonuria
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Lactase
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Lactose intolerence
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L-Iduronosulfate sulfatase
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Hunter's
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Lysosomal acid maltase
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Pompe's - GSD type II
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Lysosomal hydrolase deficiency
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Mucopolysaccharidoses
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Muscle phosphorylase
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McArdle's - GSD type V
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NADPH oxidase deficiency
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Chronic Granulomatous Disease
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Phenylalanine hydroxylase
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Phenylketonuria [PKU]
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Superoxide dismutase
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Amyltropic Lateral Sclerosis
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Sphingomyelinase
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Niemann-Pick
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Tyrosinase increase
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Albinism
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Tyrosinase deficiency
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Vitiligo
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UDP gluronyl transferase
(2) |
- Gilbert's
- Crigler-Najjar |
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Uroporphyrinogen synthase
or PBG deaminase |
Acute intermittent porphyria
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b amyloid
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Alzheimer's
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Ankyrin &/or Spectrin
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Hereditary Spherocytosis
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CFTR
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Cystic fibrosis
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Crystallins
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Cataracts
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Dystrophin
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Duchenne's muscular dystrophy
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Factor VIII
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Classic hemophilia (Hem. A)
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Fibrillin
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Marfan
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Insulin receptor
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Leprechaunism
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LDL receptor
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familial Hypercholesterolemia
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Prion
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Creutzfeldt-Jakob
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Procollagen
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Osteogenesis imperfecta
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Rhodopsin
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Retinitis pigmentosa
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dipalmitoyl phosphatidylcholine
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Respiratory Distress Syndrome
(surfactant) |
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Transthyretin
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Cardiac amyloidosis
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Amyloid-Associated Protein
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Chronic Infammatory conditions causing amyloidosis
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Amyloid light chain
(2) |
- Multiple myeloma
- B-cell problems |
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Beta-2-microglobulin
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Amyloidosis due to long term Hemodialysis
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