Читать книгу Primary Care for COMLEX Level 1 - Dr. Jahan Eftekar - Страница 29
26. SEX-LINKED ANOMALIES
ОглавлениеKeyboard 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