Alberto Burlina
- The Genetic Landscape and Epidemiology of Phenylketonuria
2020/07/14 by Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana +57 · 31 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Metabolism and Genetic Disorders #Folate and B Vitamins Research #Amino Acid Enzymes and Metabolism
- Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision
2019/05/15 by Johannes Häberle, Alberto Burlina, Anupam Chakrapani +13 · 6 citations
- Guidelines for diagnosis and management of the cobalamin‐related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
2016/11/30 by Martina Huemer, Daria Diodato, Bernd Schwahn +20 · 7 citations
Medicine · Biochemistry, Genetics and Molecular Biology · Agricultural and Biological Sciences · #Folate and B Vitamins Research #Porphyrin Metabolism and Disorders #Cassava research and cyanide
- Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis
2012/05/17 by Daniele Ghezzi, Enrico Baruffini, Tobias B. Haack +13 · 28 citations
Biochemistry, Genetics and Molecular Biology · Medicine · #Mitochondrial Function and Pathology #ATP Synthase and ATPases Research #Cardiomyopathy and Myosin Studies
- Quality of analytical performance in inherited metabolic disorders: the role of ERNDIM
2008/11/18 by Brian Fowler, B. Fowler, Alberto Burlina +5 · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Clinical Laboratory Practices and Quality Control #Genomics and Rare Diseases #Molecular Biology Techniques and Applications