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Matthew A. Lines
Matthew A. Lines
Alberta Children's Hospital
Internal medicine
Exome sequencing
Medicine
Endocrinology
Mitochondrial disease
2
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2
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PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only
2021
American Journal of Medical Genetics Part A
Anne Benner
Yazeid Alhaidan
Matthew A. Lines
Klaus Brusgaard
Diva D. De León
Rebecca Sparkes
Anja Lisbeth Frederiksen
Henrik Thybo Christesen
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A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency.
2021
European Journal of Human Genetics
Matthew A. Lines
Alexanne Cuillerier
Pranesh Chakraborty
Turaya Naas
M Laura Duque Lasio
Jean Michaud
Chantal A. Pileggi
Mary-Ellen Harper
Yan Burelle
Tomi L. Toler
Neal Sondheimer
Heather P. Crawford
Francisca Millan
Michael T. Geraghty
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