Medical Genetics Clinical Guidelines

Mannitol dry powder for inhalation for treating cystic fibrosis

Nov 2012

Mannitol (Bronchitol, Pharmaxis) is a mucoactive agent that causes water to enter the airway lumen and hydrate airway..

EASL Clinical Practice Guidelines: Wilson’s disease

Feb 2012

This Clinical Practice Guideline (CPG) has been developed to assist physicians and other healthcare providers in the..

EFNS guidelines on diagnosis and treatment of primary dystonias

Jan 2011

This guideline makes evidence-based recommendations on the diagnosis and treatment of primary dystonias..

EASL Clinical Practice Guidelines for HFE Hemochromatosis

Apr 2010

Iron overload in humans is associated with a variety of genetic and acquired conditions. Of these, HFE hemochromatosis..

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