McArdle Disease
What is McArdle Disease? McArdle disease, also known as glycogen storage disorder (GSD) type V, is …
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Medium-Chain Acyl-CoA Dehydrogenase Deficiency
What is Medium-Chain Acyl-CoA Dehydrogenase Deficiency? Fatty acid oxidation disorders (FAODs) are a type of rare …
Gaucher Disease
What is Gaucher Disease? Gaucher disease (pronounced as GO-SHEY) is a genetic condition that occurs when …
Neonatal Seizure
What is Neonatal Seizure? Neonatal seizures refer to sudden and irregular changes in brain activity in …
Cerebrotendinous Xanthomatosis
What is Cerebrotendinous Xanthomatosis? Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder that interferes with the …