Severe central apnea in two siblings with ALG8-CDG
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Presenting Author - Danielle Luz, MD; Co-Author - Joyce Chung, MD; Co-Author - Alisa Corrado, MD; Co-Author - Mindy H. Li, MD, FACMG;
Meta Tag
Biochemical genetics
Brain/Nervous System
Cardiac/circulatory disorders
Cardiovascular System
Clinical History
Delineation of Diseases
Genetic Testing
Metabolic Disorder
Respiratory System
Co-Author Joyce Chung, MD
Co-Author Alisa Corrado, MD
Co-Author Mindy H. Li, MD, FACMG
Presenting Author Danielle Luz, MD
Keywords
ALG8-CDG
autosomal recessive disorder
glycosylation process
hypoglycosylation
endoplasmic reticulum
central apnea
epilepsy
QTc interval
tachycardia
consanguinity

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