_____ is a tumor suppressor gene that encodes for the protein Hamartin
#2
_____ is caused by inactivating mutations of the Ca2+-sensing receptors that regulate PTH secretion
#3
An assay for plasma _____ concentration is done for the diagnosis of Hanhart syndrome
#4
Diagnosis of Hartnup's disease is via detection of increased excretion of indole compounds by _____ test
#5
How is the diagnosis of HGPRT deficiency made?_____
#6
The ratio of BH4 loading test 2nd or 3rd-hour post-load value with urine _____ level has high sensitivity and specificity, for diagnosing Segawa syndrome
#7
A _____ syndrome is a rare inherited absence of peroxisomes (not a mitochondrial disorder).
#8
Which epileptic syndrome has been associated with mutations in genes:
?
_____
#9
The following symbol represents _____zygotic twins on a pedigree chart
#10
The enzyme _____ is deficient in metachromatic leukodystrophy
Biochemical Markers for Disease Diagnosis Indian Medical PG Flashcards - Medical Study Cards
Master Biochemical Markers for Disease Diagnosis 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.
Biochemical Markers for Disease Diagnosis Flashcard Deck - 10 Cards
Flashcard 1: _____ is a tumor suppressor gene that encodes for the protein Hamartin
Answer: TSC1
Flashcard 2: _____ is caused by inactivating mutations of the Ca2+-sensing receptors that regulate PTH secretion
Flashcard 3: An assay for plasma _____ concentration is done for the diagnosis of Hanhart syndrome
Answer: tyrosine
Flashcard 4: Diagnosis of Hartnup's disease is via detection of increased excretion of indole compounds by _____ test
Answer: Obermeyer
Flashcard 5: How is the diagnosis of HGPRT deficiency made?_____
Answer: measuring enzyme activity in erythrocyte
Flashcard 6: The ratio of BH4 loading test 2nd or 3rd-hour post-load value with urine _____ level has high sensitivity and specificity, for diagnosing Segawa syndrome
Answer: neopterin
Flashcard 7: A _____ syndrome is a rare inherited absence of peroxisomes (not a mitochondrial disorder).
Answer: cerebrohepatorenal
Flashcard 8: Which epileptic syndrome has been associated with mutations in genes:
?
_____
Answer: Juvenile myoclonic epilepsy
Flashcard 9: The following symbol represents _____zygotic twins on a pedigree chart
Answer: di
Flashcard 10: The enzyme _____ is deficient in metachromatic leukodystrophy
Answer: arylsulfatase A
Keywords: Biochemical Markers for Disease Diagnosis flashcards, medical flashcards, NEET PG preparation, USMLE Step 1 flashcards, Anki alternative, spaced repetition medical, OnCourse flashcards
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