Fatal infantile form of muscle phosphofructokinase deficiency
Serenella Servidei(Università Cattolica del Sacro Cuore), Salvatore DiMauro(Columbia University), Shobbana Vora(NewYork–Presbyterian Hospital), Mario Kornfeld(Navajo Technical University), Eduardo Bonilla(Columbia University), Richard G. Diedrich(NewYork–Presbyterian Hospital), Mercy M. Davidson, James D. Oates(NewYork–Presbyterian Hospital)
Cited by 77
Related Papers
Mitochondrial diseases
|Nature Reviews Disease Primers|2016|1.5k
Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease)
|Nature|2000|941
Human mitochondrial DNA: roles of inherited and somatic mutations
|Nature Reviews Genetics|2012|747
Collagenase-induced intracerebral hemorrhage in rats.
|Stroke|1990|607
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
|Genetics in Medicine|2014|605