Your account is not claimed yet. You can sign up with ORCID to claim your account.

Nicola Longo

ORCID

Publication Activity (10 Years)

Years Active: 2017-2022
Publications (10 Years): 7

Top Venues

Human mutation

Journal of inherited metabolic disease

Genetics in medicine : official journal of the American College of Medical Genetics

Orphanet journal of rare diseases

University of Utah School of Medicine

Università degli Studi di Parma (PHD)

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Utah School of Medicine Sep 1o 2001

United States

Professor and Chief :: Pediatrics/Medical Genetics

Education History

Università degli Studi di Parma Jan 1o 1983 - Oct 10o 1988

Italy

PHD :: Pathology

Publications

Sangwoo T Han, Katherine J Anderson, Hans Tomas Bjornsson, Nicola Longo, David Valle
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia. Journal of inherited metabolic disease 45 (4) (2022)
Johannes Häberle, Marvin B Moore, Nantaporn Haskins, Véronique Rüfenacht, Dariusz Rokicki, Estela Rubio-Gozalbo, Mendel Tuchman, Nicola Longo, Mark Yandell, Ashley Andrews, Nicholas AhMew, Ljubica Caldovic
Noncoding sequence variants define a novel regulatory element in the first intron of the N-acetylglutamate synthase gene. Human mutation 42 (12) (2021)
Kirill Gorshkov, Amy Q Wang, Wei Sun, Ethan Fisher, Marta Frigeni, Marc Singleton, Natasha Thorne, Bradley Class, Wenwei Huang, Nicola Longo, Minh-Ha T Do, Elizabeth A Ottinger, Xin Xu, Wei Zheng
Phosphocyclocreatine is the dominant form of cyclocreatine in control and creatine transporter deficiency patient fibroblasts. Pharmacology research & perspectives 7 (6) (2020)
Bobby G Ng, Paulina Sosicka, Satish Agadi, Mohammed Almannai, Carlos A Bacino, Rita Barone, Lorenzo D Botto, Jennifer E Burton, Colleen Carlston, Brian Hon-Yin Chung, Julie S Cohen, David Coman, Katrina M Dipple, Naghmeh Dorrani, William B Dobyns, Abdallah F Elias, Leon Epstein, William A Gahl, Domenico Garozzo, Trine Bjørg Hammer, Jaclyn Haven, Delphine Héron, Matthew Herzog, George E Hoganson, Jesse M Hunter, Mahim Jain, Jane Juusola, Shenela Lakhani, Hane Lee, Joy Lee, Katherine Lewis, Nicola Longo, Charles Marques Lourenço, Christopher Chun Yu Mak, Dianalee McKnight, Bryce A Mendelsohn, Cyril Mignot, Ghayda Mirzaa, Wendy Mitchell, Hiltrud Muhle, Stanley F Nelson, Mariusz Olczak, Christina G S Palmer, Arthur Partikian, Marc C Patterson, Tyler M Pierson, Shane C Quinonez, Brigid M Regan, Margaret Elizabeth Ross, Maria J Guillen Sacoto, Fernando Scaglia, Ingrid E Scheffer, Devorah Segal, Nilika Shah Singhal, Pasquale Striano, Luisa Sturiale, Joseph D Symonds, Sha Tang, Eric Vilain, Mary Willis, Lynne A Wolfe, Hui Yang, Shoji Yano, Zöe Powis, Sharon F Suchy, Jill A Rosenfeld, Andrew C Edmondson, Stephanie Grunewald, Hudson H Freeze
SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals. Human mutation 40 (7) (2019)
Nicola Longo, David Dimmock, Harvey Levy, Krista Viau, Heather Bausell, Deborah A Bilder, Barbara Burton, Christel Gross, Hope Northrup, Fran Rohr, Stephanie Sacharow, Amarilis Sanchez-Valle, Mary Stuy, Janet Thomas, Jerry Vockley, Roberto Zori, Cary O Harding
Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria. Genetics in medicine : official journal of the American College of Medical Genetics 21 (8) (2018)
Johannes Häberle, Anupam Chakrapani, Nicholas Ah Mew, Nicola Longo
Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories. Orphanet journal of rare diseases 13 (1) (2018)
Marta Frigeni, Bijina Balakrishnan, Xue Yin, Fernanda R O Calderon, Rong Mao, Marzia Pasquali, Nicola Longo
Functional and molecular studies in primary carnitine deficiency. Human mutation 38 (12) (2017)

Nicola Longo.css-eqlu8i{font-size:small;padding-left:4px;}

Publication Activity (10 Years)

Top Topics

Top Venues

Nicola Longo