-thalassemia _____ is the most severe form of the disease; causes severe anemia a few months after birth
#2
SCID is characterized by an absent _____ on CXR
#3
-thalassemia due to a four gene deletion causes _____ (lethal in utero)
#4
Spinal muscular atrophy presents with _____-lateral symmetric weakness
#5
What lysosomal storage disease presents with optic atrophy? _____
#6
Rett syndrome presents with _____, including loss of development and verbal abilities
#7
HIV is considered a ToRCHeS infection and can be transmitted through the _____
#8
The infantile type (Werdnig-Hoffman) of Spinal Muscular Atrophy has a median age of death of _____
#9
Hunter's syndrome
#10
Hurler's syndrome
Gene therapy updates US Medical PG Flashcards - Medical Study Cards
Master Gene therapy updates with OnCourse flashcards. These spaced repetition flashcards are designed for medical students preparing for NEET PG, USMLE Step 1, USMLE Step 2, MBBS exams, and other medical licensing examinations.
Gene therapy updates Flashcard Deck - 10 Cards
Flashcard 1: -thalassemia _____ is the most severe form of the disease; causes severe anemia a few months after birth
Answer: major (0/0)
Flashcard 2: SCID is characterized by an absent _____ on CXR
Answer: thymic shadow
Flashcard 3: -thalassemia due to a four gene deletion causes _____ (lethal in utero)
Answer: hydrops fetalis
Flashcard 4: Spinal muscular atrophy presents with _____-lateral symmetric weakness
Answer: bi
Flashcard 5: What lysosomal storage disease presents with optic atrophy? _____
Answer: Krabbe disease
Flashcard 6: Rett syndrome presents with _____, including loss of development and verbal abilities
Answer: regression
Flashcard 7: HIV is considered a ToRCHeS infection and can be transmitted through the _____
Answer: placenta
Flashcard 8: The infantile type (Werdnig-Hoffman) of Spinal Muscular Atrophy has a median age of death of _____
