Ataxia Telangiectasia

2023-08-01T17:06:51+00:00August 1, 2023|

Ataxia-telangiectasia (A-T) is an inherited condition that affects the coordination of movement (ataxia), weakens the immune system, and increases


2023-07-27T17:19:19+00:00July 27, 2023|

Aspartylglucosaminuria (AGU) leads to a deficiency of the aspartylglucosaminidase enzyme. This deficiency hinders the breakdown of glycoasparagines, resulting in


2023-07-27T14:45:24+00:00July 27, 2023|

Argininemia is classified as one of the urea cycle disorders, where individuals lack the vital enzyme arginase, resulting in

Andermann Syndrome

2023-07-27T13:50:39+00:00July 27, 2023|

Andermann syndrome is an inherited disorder that leads to progressive nervous system damage. Andermann syndrome presents early in life

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