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Treatment of Wilson disease

What is the aim of treatment of Wilson disease? Removal or copper deposited in…

WILSON DISEASE

Aka Hepatolenticular degeneration  Autosomal Recessive inheritance  What is t…

VACTERL/VATER ASSOCIATION

Why not syndrome and why association? VATER or VACTERL is not a syndrome as …

Gitelman

Autosomal Recessive condition  More common than Bartter syndrome  Mimics chron…

Bartter Syndrome

Autosomal Recessive disorder. Characterized by defect in the Na-K-Cl channel i…

Lissencephaly

Also known as agyria Some 65% are associated with mutations in the LIS1 gene…

Moebius syndrome

Congenital unilateral or bilateral paralysis of VII and VI nerve  Hypoplasia of…

NOONAN SYNDROME

Introduction Autosomal Dominant condition  Ras-MAPK pathway Defect  Due to muta…

Androgen insensitivity syndrome

What happens in AIS? Type of DSD - Disorder of sexual differentiation  Androgen…

Monobactams  Monobactams are a group of beta lactam antibiotics since it has t…

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