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30 Cards in this Set
- Front
- Back
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Lysosomal acid alpha-1,4-glucosidase Deficiency
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Pompe Disease
Glyogen Storage Disease ype II Autosomal Recessive |
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Defective glucose-6-phosphatase
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von Gierke
Glyogen Storage Disease ype I Autosomal Recessive |
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glycogen debranching enzyme deficiency
(Alpha 1,6-glucosidase) |
Cori Disease
Glyogen Storage Disease ype III Autosomal Recessive |
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Muscle Glycogen phosporylase deficiency
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McArdles Disease
Glyogen Storage Disease ype V Autosomal Recessive |
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Glucose-6-Phosphate Dehydrogenase Deficiency
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Glucose-6-Phosphate Dehydrogenase Deficiency
X-Linked Recessive |
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Fructokinase Deficiency
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Essential Fructosuria
Autosomal Recessive Benign |
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Fruc 1,6 BP aldolase B deficiency
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Fructose Intolerance
Autosomal Recessive |
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galactose-1-phosphate uridyl transferase deficiency
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Classic Galactosemia
Autosomal Recessive |
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Galactokinase deficiency
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Galactokinase deficiency
Autosomal Recessive Benign |
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Alpha-L-Iduronidase
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Hurler Disease
Autosomal Recessive |
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Iduronate Sulfatase Deficiency
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Hunter Disease
X-Linked Recessive |
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Hepran N-Sulfatase Deficiency
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Sanfilippo Disease
Autosomal Recessive |
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Beta-Glucuronidase Deficiency
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Sly Disease
Autosomal Recessive |
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Hexosaminidase A Deficiency
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Tay-Sachs Disease
Autosomal Recessive Ashkenazi Jews |
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Hexoaminidase A &B Deficiency
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Sandhoff Disease
Autosomal Recessive |
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Alpha-Galactosidase A deficiency
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Fabry Disease
X-Linked Recessive |
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Acid Beta-glucosidase Deficiency
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Gaucher Disease
Autosomal Recessive |
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Sphingomyelinase Deficiency
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Niemann-Pick Disease
Autosomal Recessive |
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N-Acetylglucosamine-1-phospotransferase deficiency
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I-Cell Diseased
Autosomal Recessive |
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Galacosylceramidase Deficiency
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Krabbe Disease
Autosomal Recessive |
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Ayrlsulfatase A Deficiency
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Metachromic Leukodystrophy
Autosomal Recessive |
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Non Polar Aliphatic AAs
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Glycine
Alanine Valine Leucine Isoleucine Proline |
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Non Polar Aromatic AAs
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Phenylalanine
Tryptophan |
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Non Polar Sulfur Containing AAs
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Methionine
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Polar Basic AAs
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Lysine
Arginine Histadine |
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Polar Acidic AAs
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Aspartic Acid
Glutamic Acid |
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Polar Uncharged AAs
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Serine
Threonine Cysteine Tyrosine Glutamine Asparagine |
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Strictly Ketogenic AAs
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Lysine and Leucine
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Ketogenic & glucogenic AAs
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Isoleucine, phenylalanine, tryptophan, and tyrosine
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Glucogenic AAs
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All except Lysine, leucine, isoleucine, phenylalanine, tryptophan, and tyrosine
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