NicolaLongoMDPhD
Medical Genetics • Salt Lake City, UTClinical Biochemical Genetics, Clinical Genetics
Professor of Pediatrics, Chief, Division of Medical Genetics
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Office
295 Chipeta Way
Salt Lake City, UT 84108Phone+1 801-585-2457Fax+1 801-585-7252- Is this information wrong?
Education & Training
Univ Parma- Fac MedClass of 1982
Certifications & Licensure
UT State Medical License 2001 - 2026
NV State Medical License 2008 - 2025
AK State Medical License 2020 - 2024
WY State Medical License 2011 - 2024
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
- ClinGen variant curation expert panel recommendations for classification of variants in GAMT, GATM and SLC6A8 for cerebral creatine deficiency syndromes.Jennifer Goldstein, Amanda Thomas-Wilson, Emily Groopman, Vimla Aggarwal, Simona Bianconi, Raquel Fernandez, Kim Hart, Nicola Longo, Nicole Liang, Daniel Reich, Heidi ...> ;Molecular Genetics and Metabolism. 2024 Mar 2
- 3 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, Nicola Longo, Aleš Linhart, Derralynn A Hughes, Robert J Hopkin, Camilla Tøndel, Mirjam ...> ;Journal of Medical Genetics. 2023 Nov 8
- 1 citationsExpert Consensus on the Long-Term Effectiveness of Medical Nutrition Therapy and Its Impact on the Outcomes of Adults with Phenylketonuria.Júlio César Rocha, Kirsten K Ahring, Heather Bausell, Deborah A Bilder, Cary O Harding, Anita Inwood, Nicola Longo, Ania C Muntau, André L Santos Pessoa, Fran Rohr, Se...> ;Nutrients. 2023 Sep 11
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Press Mentions
Utah DOH Identifies First Baby with Inherited Disorder That Primarily Affects Brain, MusclesDecember 30th, 2020
Total Pelvic Exenteration, Cytoreductive Surgery, and Hyperthermic Intraperitoneal Chemotherapy for Rectal Cancer with Associate Peritoneal Metastases: Surgical Strategies to Optimize SafetyNovember 23rd, 2020
Consensus Guideline for the Diagnosis and Treatment of Tetrahydrobiopterin (BH4) DeficienciesMay 26th, 2020- Join now to see all
Hospital Affiliations
Primary Children's HospitalSalt Lake City, Utah
University of Utah HealthSalt Lake City, Utah- Eastern Idaho Regional Medical CenterIdaho Falls, Idaho
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