Search | eNauka

Research outputs

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes [2016]

Anastasio, Natascia; Tarailo Graovac, Maja ; Al-Khalifah, Reem; Legault, Laurent; Drogemoller, Britt; Ross, Colin J.D.; Wasserman, Wyeth W.; van, Karnebeek Clara; Buhas, Daniela

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) [2016]

Balasubramaniam, Shanti; Lewis, B.; Mock, D. M.; Said, H. M.; Tarailo Graovac, Maja ; Mattman, A.; van, Karnebeek C. D.; Thorburn, D. R.; Rodenburg, R. J.; Christodoulou, J.

Molecular genetics and genotype-based estimation of BH4-responsiveness in serbian PKU patients: Spotlight on phenotypic implications of p.L48S [2012]

Đorđević, M. ; Klaassen, Kristel ; Sarajlija, A. ; Tošić, Nataša ; Zukić, Branka ; Kecman, B.; Radmilović Milena ; Spasovski, Vesna ; Pavlović, Sonja ; Stojiljković, Maja

Mitochondrial Complex III Deficiency with Ketoacidosis and Hyperglycemia Mimicking Neonatal Diabetes [2016]

Leigh-Like Syndrome Due to Homoplasmic m.8993T&gt;G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) [2016]

Molecular genetics and genotype-based estimation of BH4-responsiveness in serbian PKU patients: Spotlight on phenotypic implications of p.L48S [2012]

Filters

Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD) [2016]