What is the mode of inheritence of Imerslund-Grasbeck syndrome?_____
#2
Achondroplasia is associated with _____cephaly.
#3
The type of screening done in a newborn to rule out metabolic disorders like phenylketonuria is _____ screening.
#4
Alagille syndrome is associated with mutations in _____ gene in 90% of patients
#5
Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis
#6
Which mucopolysaccharidosis is characterised by absence of hepatosplenomegaly and preservation of intelligence?_____
#7
_____ syndrome is associated with a WT1 gene mutation
#8
What is the most common cause of genetic mental retardation?
#9
Characteristic clinical findings in Phenylketonuria: No answer _____
#10
The abnormality of _____ syndrome is arterio-hepatic dysplasia
Disorders of Lipid Metabolism US Medical PG Flashcards - Medical Study Cards
Master Disorders of Lipid Metabolism 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.
Disorders of Lipid Metabolism Flashcard Deck - 10 Cards
Flashcard 1: What is the mode of inheritence of Imerslund-Grasbeck syndrome?_____
Answer: Autosomal recessive
Flashcard 2: Achondroplasia is associated with _____cephaly.
Answer: macro
Flashcard 3: The type of screening done in a newborn to rule out metabolic disorders like phenylketonuria is _____ screening.
Answer: prescriptive
Prescriptive screening is a targeted approach to identifying individuals who are most likely to benefit from specific interventions or treatments. This type of screening uses data, algorithms, or evidence-based guidelines to recommend personalized actions for prevention, early detection, or management of conditions. It goes beyond simply detecting risk factors and focuses on actionable outcomes tailored to the individual’s needs.
Flashcard 4: Alagille syndrome is associated with mutations in _____ gene in 90% of patients
Answer: JAG1
Flashcard 5: Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis
Answer: pancreatic
Flashcard 6: Which mucopolysaccharidosis is characterised by absence of hepatosplenomegaly and preservation of intelligence?_____
Answer: Morquios disease
Flashcard 7: _____ syndrome is associated with a WT1 gene mutation
Answer: Denys-Drash
Flashcard 8: What is the most common cause of genetic mental retardation?
Answer: Down syndrome (trisomy 21)
Flashcard 9: Characteristic clinical findings in Phenylketonuria: No answer _____
Answer: :)
Flashcard 10: The abnormality of _____ syndrome is arterio-hepatic dysplasia
Answer: Alagille
Keywords: Disorders of Lipid Metabolism flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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