Genetic Disorders and Biochemical Pathology — Flashcards

The difference between clinical presentation of Cori's disease vs Her's disease is that _____ disease will present with growth retardation

A rare variant genotype of 1-antitrypsin deficiency with no detectable serum alpha-1 antitrypsin is known as _____

An assay for plasma _____ concentration is done for the diagnosis of Hanhart syndrome

Germline mutation in polycythemia paraganglioma syndrome is gain of function mutation seen in _____ gene.

The gene for atopy is located on chromosome _____

Diagnosis of Hartnup's disease is via detection of increased excretion of indole compounds by _____ test

Trichorrhexis nodosa and longitudinal breaks are seen in _____

In both sporadic and familial pseudogout, there is germline mutations in the _____ gene

What enzyme deficiency is seen in Farber's disease?_____

Pearson syndrome is a mitochondrial inheritence disorder characterised by _____ insufficiency, pancytopenia and lactic acidosis