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Summary
GLYCOGEN STORAGE DISEASE TYPE XV
GSD15
613507
OMIM = Online Medalian Inheritance of Men
263297
3q24
rare
autosomal recessive
symptoms
cardiac arrhythmia, dysrhythmia
cardiomyopathy, hypertrophic
muscle weakness
onset, adult
pain, chest
shortness of breath
laboratory finding
Glycogen decreasedmuscle
Literature
Debray FGet al.Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseasesPediatrics1194722-7332007
Debray FGet al.Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseasesPediatrics1194722-7332007
Debray FGet al.Diagnostic Accuracy of Blood Lactate-to-Pyruvate Molar Ratio in the Differential Diagnosis of Congenital Lactic AcidosisClin Chem535916-9212007
Debray FGet al.Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseasesPediatrics1194722-7332007