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26. SEX-LINKED ANOMALIES

Оглавление

Keyboard Associations

Condition ⇔ Deficiency

•Duchenne muscular dystrophy ⇔ Dystrophin defect, pseudohypertrophy of calf

•Becker muscular dystrophy ⇔ dystrophin deficiency

•Wiskott-Aldrich Syndrome ⇔ B and T defect, thrombocytopenia, see Immune deficiency

•Lesch-Nyhan ⇔ Hypoxanthine-guanine phosphoribosyl transferase deficiency, self-mutilation, mental retardation

•Hunter’s ⇔ L-Iduronosulfate sulfatase

•Glucose-6-phosphate dehydrogenase deficiency ⇔ Hemolytic anemia, oxidative injury, antimalarial, sulfonamide

•Hemophilia A (Classic) ⇔ Factor VIII

•Fabry’s ⇔ α-galactosidase A

•Fragile X ⇔ Dominant, Folate deficiency, CGG trinucleotide repeat, mental retardation

•Bruton’s agammaglobulinemia ⇔ B cell defect

Primary Care for COMLEX Level 1

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