Nicola Longo
Professor and Chief, Division of Clinical Genetics/Human Genetics · UCLA David Geffen School of Medicine/UCLA Medical Center
Credentials: · · · · · · · ·
History
PresentDivision of Clinical Genetics/Human Genetics · UCLA David Geffen School of Medicine/UCLA Medical Center
- Present
Division of Clinical Genetics · UCLA David Geffen School of Medicine/UCLA Medical Center
- 1995–1996
- 1982–1983
Emory University Affiliated Hospital
Research
Carnitine transport and fatty acid oxidation
Review · Biochimica et Biophysica Acta · 2016 · First of 3 authors · Corresponding · 725 citations
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat
New England Journal of Medicine · 2016 · 425 citations
Disorders of carnitine transport and the carnitine cycle
Review · American journal of medical genetics. Part C · 2006 · First of 3 authors · Corresponding · 392 citations
- CH
27 papers
26 papers
25 papers
- LE
22 papers
- RZ
20 papers
13 papers
12 papers
- GD
11 papers
Grants
- 2019–2026
Hyperphenylalaninemia Disorders Consortium of the Rare Disease Clinical Research Network
National Institute of Child Health and Human Development · U54
Project lead · $376.6K · Oregon Health & Science University
- 2009–2023
Society for Inherited Metabolic Disorders Annual Meeting
National Institute of Child Health and Human Development · R13
Contact PI · $124K · Utah State Higher Education System--University of Utah
- 2000–2013
The Carnitine Transporter in Human Disease
National Institute of Diabetes and Digestive and Kidney Diseases · R01
Contact PI · $2.3M · Utah State Higher Education System--University of Utah
- 2007–2010
Anaplerotic Therapy in Propionic Acidemia
National Institute of Diabetes and Digestive and Kidney Diseases · R21
Contact PI · $408.6K · Utah State Higher Education System--University of Utah
Clinical trials
- 2008–2010
- 2025–2028
A Study of JNT-517 in Participants With Phenylketonuria (PKU)
Site PI · Recruiting · Phase 3
Otsuka Pharmaceutical Development & Commercialization, Inc.