Healthcare
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Understanding Hemophilia: A Guide for Everyone
What Is Hemophilia? Hemophilia is a rare genetic condition where the blood doesn’t clot properly, causing people to bleed more…
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Hemophilia Uncovered: Stories, Science, and Steps to Thrive
Introduction: Emma’s Story At just six months old, Emma’s parents noticed unusual bruises after her first steps. A simple fall…
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Acute Appendicitis
Key Points Acute inflammation of the vermiform appendix, a common surgical emergency. Peak incidence in…
Hereditary Tyrosinemia Type I (Hypertyrosinemia)
Key Points Rare autosomal recessive disorder due to fumarylacetoacetate hydrolase (FAH) deficiency (Hereditary Tyrosinemia Type…
Galactosemia (Classic Galactosemia)
Key Points Inherited deficiency of galactose-1-phosphate uridyltransferase (GALT), leading to toxic accumulation of galactose-1-phosphate and…
Glycogen Storage Diseases: Overview and Type I (Von Gierke Disease)
Key Points Glycogen storage diseases (GSDs) are inherited enzyme defects in glycogen synthesis or breakdown…
Wilson’s Disease (Hepatolenticular Degeneration)
Key Points Autosomal recessive disorder of copper metabolism leading to toxic copper accumulation. Presents with…