Longo, Nicola

Disorders of carnitine transport and the carnitine cycle

Longo, N., Amat di San Filippo, C., & Pasquali, M. (2006) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 543

Global Analysis of Plasma Lipids Identifies Liver-Derived Acylcarnitines as a Fuel Source for Brown Fat Thermogenesis

Simcox, J., Geoghegan, G., Maschek, J. A., Bensard, C. L., Pasquali, M., Miao, R., Lee, S., Jiang, L., Huck, I., Kershaw, E. E., et al. (2017) · Cell Metabolism

Adipose Tissue and MetabolismLipid metabolism and biosynthesis

Cited by 277

Efficacy of sapropterin dihydrochloride in increasing phenylalanine tolerance in children with phenylketonuria: a phase III, randomized, double-blind, placebo-controlled study

Trefz, F. K., Burton, B. K., Longo, N., Casanova, M. M.-P., Gruskin, D. J., Dorenbaum, A., Kakkis, E. D., Crombez, E. A., Grange, D. K., Harmatz, P., et al. (2009) · The Journal of Pediatrics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 196

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency

van de Kamp, J. M., Betsalel, O. T., Mercimek-Mahmutoglu, S., Abulhoul, L., Grünewald, S., Anselm, I., Azzouz, H., Bratkovic, D., de Brouwer, A., Hamel, B., et al. (2013) · Journal of Medical Genetics

Metabolism and Genetic DisordersGenetics and Neurodevelopmental Disorders

Cited by 164

Guanidinoacetate methyltransferase (GAMT) deficiency: outcomes in 48 individuals and recommendations for diagnosis, treatment and monitoring

Stockler-Ipsiroglu, S., van Karnebeek, C., Longo, N., Korenke, G. C., Mercimek-Mahmutoglu, S., Marquart, I., Barshop, B., Grolik, C., Schlune, A., Angle, B., et al. (2014) · Molecular Genetics and Metabolism

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 145

Disorders of creatine transport and metabolism

Longo, N., Ardon, O., Vanzo, R., Schwartz, E., & Pasquali, M. (2011) · American Journal of Medical Genetics Part C Seminars in Medical Genetics

Metabolism and Genetic DisordersAmino Acid Enzymes and Metabolism

Cited by 101

Use of steroid profiling by UPLC-MS/MS as a second tier test in newborn screening for congenital adrenal hyperplasia: the Utah experience

Schwarz, E., Liu, A., Randall, H., Haslip, C., Keune, F., Murray, M., Longo, N., & Pasquali, M. (2009) · Pediatric Research

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 97