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Journal of Inherited Metabolic Disease|July 21, 2018
Outcome measures for children with mitochondrial disease: consensus recommendations for future studies from a Delphi-based international workshopSaskia Koene, Lara van Bon, Enrico Bertini, et al.Journal of Inherited Metabolic Disease|May 19, 2017
Short-chain acyl-CoA dehydrogenase deficiency: from gene to cell pathology and possible disease mechanismsZahra Nochi, Rikke Katrine Jentoft Olsen, Niels GregersenJournal of Inherited Metabolic Disease|April 29, 2017
A novel conditional Sgsh knockout mouse model recapitulates phenotypic and neuropathic deficits of Sanfilippo syndromeAdeline A Lau, Barbara M King, Carly L Thorsen, et al.Journal of Inherited Metabolic Disease|May 27, 2018
Role of continuous glucose monitoring in the management of glycogen storage disordersMrudu Herbert, Surekha Pendyal, Mugdha Rairikar, et al.Journal of Inherited Metabolic Disease|July 12, 2017
Heterozygous carriers of succinyl-CoA:3-oxoacid CoA transferase deficiency can develop severe ketoacidosisHideo Sasai, Yuka Aoyama, Hiroki Otsuka, et al.Journal of Inherited Metabolic Disease|May 10, 2018
Sirtuin signaling controls mitochondrial function in glycogen storage disease type IaJun-Ho Cho, Goo-Young Kim, Brian C Mansfield, et al.Journal of Inherited Metabolic Disease|January 6, 2010
Abnormal nonstoring capillary endothelium: a novel feature of Gaucher disease. Ultrastructural study of dermal capillariesHelena Hůlková, Helena Poupetová, Klaus Harzer, et al.Journal of Inherited Metabolic Disease|January 6, 2010
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availabilityShanti Balasubramaniam, Frank Bowling, Kevin Carpenter, et al.Journal of Inherited Metabolic Disease|January 6, 2010
Fatty acid oxidation disorders: outcome and long-term prognosisBridget WilckenPageof 429