NicolaLongoMDPhD
Medical Genetics • Los Angeles, CAClinical Biochemical Genetics, Clinical Genetics
Professor of Pediatrics, Chief, Division of Medical Genetics
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Office
10833 Le Conte Ave
Center for Health Sciences CHS 12-138
Los Angeles, CA 90095Phone+1 310-923-0473Fax+1 310-206-8417
Education & Training
Univ Parma- Fac MedClass of 1982
Certifications & Licensure
AK State Medical License 2020 - 2026
CA State Medical License 2024 - 2026
UT State Medical License 2001 - 2026
NV State Medical License 2008 - 2025
WY State Medical License 2011 - 2025
GA State Medical License 1995 - 2001- American Board of Medical Genetics and Genomics Clinical Biochemical Genetics
- American Board of Medical Genetics and Genomics Clinical Genetics and Genomics
Clinical Trials
- Study of GA-GCB Enzyme Replacement Therapy in Type 1 Gaucher Disease Patients Previously Treated With Imiglucerase Start of enrollment: 2007 Jul 25
- Anaplerotic Therapy in Propionic Acidemia Start of enrollment: 2008 Jul 01
- Safety Study of Replagal® Therapy in Children With Fabry Disease Start of enrollment: 2011 May 12
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Publications & Presentations
PubMed
- Response to therapy of creatine transporter deficiency caused by a hypomorphic variant in SLC6A8.Nicola Longo, Laura Alane Voss, Marta Frigeni, Bijina Balakrishnan, Marzia Pasquali
Molecular Genetics and Metabolism. 2024-11-01 - 3 citationsPegvaliase for the treatment of phenylketonuria: Final results of a long-term phase 3 clinical trial program.Cary O Harding, Nicola Longo, Hope Northrup, Stephanie Sacharow, Rani Singh
Molecular Genetics and Metabolism Reports. 2024-06-01 - 15 citationsHead-to-head trial of pegunigalsidase alfa versus agalsidase beta in patients with Fabry disease and deteriorating renal function: results from the 2-year randomised p...Eric L Wallace, Ozlem Goker-Alpan, William R Wilcox, Myrl Holida, John Bernat
Journal of Medical Genetics. 2024-05-21
Press Mentions
Utah DOH Identifies First Baby with Inherited Disorder That Primarily Affects Brain, MusclesDecember 30th, 2020
Consensus Guideline for the Diagnosis and Treatment of Tetrahydrobiopterin (BH4) DeficienciesMay 26th, 2020
Horizon Pharma Plc Announces FDA Approval to Expand the Age Range for RAVICTI® (Glycerol Phenylbutyrate) Oral Liquid to Include NewbornsDecember 27th, 2018- Join now to see all
Other Languages
- Italian
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