Nicola Longo

Research interests

Publications

• Phenylketonuria

  Nature Reviews Disease Primers · 2021 · https://doi.org/10.1038/s41572-021-00267-0

• Safety and efficacy of avalglucosidase alfa versus alglucosidase alfa in patients with late-onset Pompe disease (COMET): a phase 3, randomised, multicentre trial

  The Lancet Neurology · 2021 · https://doi.org/10.1016/s1474-4422(21)00241-6

• Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL): an international, randomised, double-blind, parallel-group, phase 3 trial

  The Lancet Neurology · 2021 · https://doi.org/10.1016/s1474-4422(21)00331-8

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

  Cell Metabolism · 2017 · https://doi.org/10.1016/j.cmet.2017.08.006

• Carnitine transport and fatty acid oxidation

  Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · 2016 · https://doi.org/10.1016/j.bbamcr.2016.01.023

• Treatment of Fabry’s Disease with the Pharmacologic Chaperone Migalastat

  New England Journal of Medicine · 2016 · https://doi.org/10.1056/nejmoa1510198

• Impaired PIEZO1 function in patients with a novel autosomal recessive congenital lymphatic dysplasia

  Nature Communications · 2015 · https://doi.org/10.1038/ncomms9329

• Single-dose, subcutaneous recombinant phenylalanine ammonia lyase conjugated with polyethylene glycol in adult patients with phenylketonuria: an open-label, multicentre, phase 1 dose-escalation trial

  The Lancet · 2014 · https://doi.org/10.1016/s0140-6736(13)61841-3

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

  Journal of Medical Genetics · 2013 · https://doi.org/10.1136/jmedgenet-2013-101658

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

  Molecular Genetics and Metabolism · 2013 · https://doi.org/10.1016/j.ymgme.2013.10.018

• Mutations in ABCD4 cause a new inborn error of vitamin B12 metabolism

  Nature Genetics · 2012 · https://doi.org/10.1038/ng.2386

• A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency

  Molecular Genetics and Metabolism · 2009 · https://doi.org/10.1016/j.ymgme.2008.09.008

• Efficacy of Sapropterin Dihydrochloride in Increasing Phenylalanine Tolerance in Children with Phenylketonuria: A Phase III, Randomized, Double-Blind, Placebo-Controlled Study

  The Journal of Pediatrics · 2009 · https://doi.org/10.1016/j.jpeds.2008.11.040

• Disorders of biopterin metabolism

  Journal of Inherited Metabolic Disease · 2009 · https://doi.org/10.1007/s10545-009-1067-2

• Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase

  Human Mutation · 2008 · https://doi.org/10.1002/humu.9519

• A Novel Mutation in FGFR3 Causes Camptodactyly, Tall Stature, and Hearing Loss (CATSHL) Syndrome

  The American Journal of Human Genetics · 2006 · https://doi.org/10.1086/508433

• Glutaric acidemia type 1

  American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2006 · https://doi.org/10.1002/ajmg.c.30088

• Disorders of carnitine transport and the carnitine cycle

  American Journal of Medical Genetics Part C Seminars in Medical Genetics · 2006 · https://doi.org/10.1002/ajmg.c.30087

• Mutations in the organic cation/carnitine transporter OCTN2 in primary carnitine deficiency

  Proceedings of the National Academy of Sciences · 1999 · https://doi.org/10.1073/pnas.96.5.2356

• Functional characterization of an EGF receptor with a truncated extracellular domain expressed in glioblastomas with EGFR gene amplification.

  PubMed · 1994

Current projects

No projects listed.