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Juan Alberto Aguayo

5 posts
My Odyssey

My Odyssey #13: Diagnosed with Ataxia with Vitamin E Deficiency (AVED)

A Long Journey of Mysterious Disease Gets Right Back on Track One day in summer, it was a simple routine day doing my clinical demonstration for…

Rare Disease Series

Rare disease series #26: Lysosomal storage diseases (LSDs)

Lysosomal storage diseases (LSD) are a group of over 70 diseases that are distinguished by lysomal dysfunction and mostly inherited as autosomal recessive traits with some…

Rare Disease Series

Rare disease series #25: Spinal Muscular Atrophy

Let’s continue our series of rare genetic diseases by looking more closely at Spinal Muscular Atrophy (SMA). This disease affects 1 per 8,000 to…

Insights

How do you decide between blood or buccal swab collection?

DNA is contained in and can be extracted from blood, saliva, semen, skin cells, tissues, organs, bones, hair, mucus, perspiration, and fingernails among others1. DNA is…

Insights

What is Variant Specific Testing?

Once a patient is diagnosed, it can be recommended for family members such as parents or siblings to be tested using a Variant Specific Test. What…

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