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6 Cell fraction Centrifuge tube Slice Tissue Buffer Potter homo- genizer Gauze Whole cells, connective tissue g 300 000 120' Centrifuge g 100 000 60' g 15 000 15' g 600 10' Ribosomes Viruses Macromolecules Plasma membrane ER fragments Small vesicles Microsomal fraction Nucleus DNA Mitochondria Lysosomes Peroxisomes (Plants: chloroplasts) Ribosomes rRNA Nucleus Cytoskeleton Plasma membrane NaK ATPase 3.
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000 g. The type schemas of the constructors null and cons are parameterized over the element 172 Disease Clinical features Genes Phenylketonuria Galactosemia Mental retardation, seizures, developmental delay, autistic behavior Phenylalanine hydroxylase, dihydropteri- dine reductase Homocystinuria Cataracts in infancy Lens dislocation, thrombosis, mental Galactokinase Cystathionine β-synthetase Maple syrup urine disease Congenital adrenal hyperplasia marfanoid habitus, scoliosis, osteoporosis Lethargy, irritability, ketoacidosis, metabolic Branched chain ketoacid decarboxylase (not monogenic because of subunits) Congenital hypothyroidism Biotinidase deficiency females Virilization of affected females, hypertension Cretinism Steroid 11β-hydroxylase (CYP11B) Usually non-genetic or complex genetic, Sickle cell anemia Medium-chain acyl-CoA dehydrogenase Anemia, sickling crises, infections Hypoglycemia, hyperammonemia β-Globin MCAD, SCAD, LCAD deficiency (and other fatty acid oxidation defects caused by deficiencies of acyl-CoA dehydrogenases) hepatomegaly, metabolic crisis, elevated acylcarnitine Table 8 Tests Performed in Newborn Screening Programs Hepatomegaly, liver failure, cataracts, mental retardation, E.
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