O01: Efficacy and safety outcomes of JNT-517, a first-in-class SLC6A19 inhibitor, in adults with phenylketonuria: A randomized study
Cary O. Harding, Nicola Longo, Andreu Viader, Toby Vaughn et autres
0 citationsGenetics in Medicine Open
Fernanda Leal‐Pardinas
Informations fournies par OpenAlex. Research Africa ne déduit ni nationalité, ni poste, ni coordonnées personnelles.
12Publications signalées
61Citations signalées
1Affiliations récentes
Institutions déclarées
Domaines associés
Lysosomal Storage Disorders ResearchGlycogen Storage Diseases and MyoclonusEpilepsy research and treatmentTrypanosoma species research and implicationsCystic Fibrosis Research Advances
Publications récentes
Value of genetic testing for pediatric epilepsy: Driving earlier diagnosis of ceroid lipofuscinosis type 2 Batten disease
Fernanda Leal‐Pardinas, Rebecca Truty, Dianalee McKnight, Britt Johnson et autres
15 citationsEpilepsia
DETECT LYSOSOMAL STORAGE DISEASES, A NO-CHARGE SPONSORED TESTING PROGRAM, ENABLES ACCESS TO GENETIC TESTING, TREATMENT, AND CLINICAL TRIALS FOR INDIVIDUALS WITH SUSPECTED LYSOSOMAL STORAGE DISORDERS
Britt Johnson, Kathleen Crosby, Matthew Furgerson, Fernanda Leal‐Pardinas et autres
0 citationsMolecular Genetics and Metabolism
Detect Lysosomal Storage Diseases: A no-charge, sponsored, testing program that enables access to genetic testing, treatment, and clinical trials for individuals with suspected lysosomal disorders
Heather M. McLaughlin, Michele V. Clarke, Kathleen Crosby, Matthew Furgerson et autres
0 citationsMolecular Genetics and Metabolism
Connect: Designing a first-in-human gene replacement therapy clinical trial for CLN1
Fernanda Leal‐Pardinas, Andy Cunningham, Kome Okposo, Dominic Marchese et autres
0 citationsMolecular Genetics and Metabolism
Clinical utility of a sponsored gene panel testing program for pediatric epilepsy and CLN2 disease diagnosis: Results from 4246 tests
Tiffany W. Pang, Fernanda Leal‐Pardinas, Rebecca Truty, Dianalee McKnight et autres
0 citationsMolecular Genetics and Metabolism
Cerliponase Alfa for the Treatment of Atypical Phenotypes of CLN2 Disease: A Retrospective Case Series
Eva Wibbeler, Raymond Wang, Emily de los Reyes, Nicola Specchio et autres
17 citationsJournal of Child Neurology
Intracerebroventricular Cerliponase Alfa for Neuronal Ceroid Lipofuscinosis Type 2 Disease: Clinical Practice Considerations From US Clinics
Emily de los Reyes, Lenora Lehwald, Erika F. Augustine, Elizabeth Berry‐Kravis et autres
26 citationsPediatric Neurology
Shortening the time between symptom onset and diagnosis for CLN2 disease: Results from Behind the Seizure™, a no-cost epilepsy gene panel testing program
Ashley Volz, Dorna Chu, Stephanie Gurnon, Tiara Johnson et autres
0 citationsMolecular Genetics and Metabolism
Update on a no-cost epilepsy gene panel for seizure onset between 2 and 4 years of age: Results from 682 tests
Tiffany Pang, Fernanda Leal‐Pardinas, Mitch Bailey, Sookyong Koh et autres
0 citationsMolecular Genetics and Metabolism
Cerliponase alfa for the treatment of atypical phenotypes of CLN2 disease: A retrospective case series
Eva Wibbeler, Raymond Wang, Emily de los Reyes, Nicola Specchio et autres
3 citationsMolecular Genetics and Metabolism
Intracerebroventricular cerliponase alfa for CLN2 disease: Clinical practice considerations from US clinics
Raymond Wang, Emily de los Reyes, Lenora Lehwald, Erika F. Augustine et autres
0 citationsMolecular Genetics and Metabolism
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