Batten Disease (Juvenile Neuronal Ceroid Lipofuscinosis)
What is Batten Disease (Juvenile Neuronal Ceroid Lipofuscinosis)? Neuronal ceroid lipofuscinoses (NCLs) are a collection of …
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Lysosomal Storage Diseases
Back to Genetic Disorders
Metachromatic Leukodystrophy
What is Metachromatic Leukodystrophy? Lysosomal storage diseases (LSDs) are a set of inherited diseases that interfere …
Mucopolysaccharidosis Type II (Hunter Syndrome )
What is Mucopolysaccharidosis Type II (Hunter Syndrome )? Hunter syndrome is a condition passed down through …
Hurler Syndrome
What is Hurler Syndrome? Hurler syndrome, first talked about by German pediatrician Gertrud Hurler in 1919, …
Genu Valgum
What is Genu Valgum? “Genu valgum”, also known as “knocked knees”, refers to a condition where …
Gaucher Disease
What is Gaucher Disease? Gaucher disease (pronounced as GO-SHEY) is a genetic condition that occurs when …
Fabry Disease
What is Fabry Disease? Fabry disease is a condition that impacts multiple systems in the body. …