Menkes Disease: A Comprehensive Guide to the Copper Transport Disorder
Introduction & Background of Menkes Disease Menkes Disease, also known as Menkes syndrome or kinky hair disease, is a rare, […]
Fabry Disease: A Comprehensive Guide to the Genetic Fat Metabolism Disorder
Introduction & Background of Fabry Disease Fabry Disease is a rare, inherited genetic disorder that affects the body’s ability to […]
Gaucher Disease: A Complete Guide to the Genetic Fat Storage Disorder
Introduction & Background of Gaucher Disease – Fat buildup in organs Gaucher Disease (pronounced go-SHAY) is a rare, inherited genetic […]
Pompe Disease: A Comprehensive Guide to the Glycogen Storage Disorder
Introduction & Background of Pompe Disease Pompe disease is a rare, inherited genetic disorder that results in the progressive weakening […]
Phenylketonuria (PKU): A Complete Guide to the Metabolic Disorder
Introduction & Background of Phenylketonuria (PKU) – Affects Amino Acid Metabolism Phenylketonuria (PKU) is a rare, inherited metabolic disorder that […]
Maple Syrup Urine Disease (MSUD): A Complete Guide
Introduction & Background of Maple Syrup Urine Disease (MSUD) Maple Syrup Urine Disease (MSUD) is a rare, inherited metabolic disorder […]
Blue Rubber Bleb Nevus Syndrome (BRBNS): A Complete Guide
Introduction & Background of Blue Rubber Bleb Nevus Syndrome Blue Rubber Bleb Nevus Syndrome (BRBNS) is an exceedingly rare vascular […]
Understanding Polycythemia Vera: A Guide to the Overproduction of Red Blood Cells
Introduction & Background of Polycythemia Vera – Overproduction of red blood cells Polycythemia Vera (PV) is a rare, chronic blood […]
Takayasu’s Arteritis: The Complete Guide to the “Pulseless Disease”
Introduction & Background of Takayasu’s Arteritis Takayasu’s Arteritis (TAK), often called “pulseless disease,” is a rare and chronic form of […]
Kawasaki Disease: A Comprehensive Guide to the Childhood Vascular Inflammation
Introduction & Background of Kawasaki Disease Kawasaki Disease (KD), also known as mucocutaneous lymph node syndrome, is an acute illness […]