Mitochondrial cardiomyopathies

by Ayman W. El-Hattab, Fernando Scaglia
Published 2016-07-01

Titaniferous magnetite and barite from the San Gregorio de Polanco dike swarm, Paraná Magmatic Province, Uruguay

by Rossana Muzio, Fernando Scaglia, Henri Masquelin
Published 2013-07-01

Petrography descriptions and U-Pb zircon datasets from the Archean Pavas Block, Precambrian of Uruguay

by Henri Masquelin, Tahar Aïfa, Fernando Scaglia, Miguel A.S. Basei
Published 2021-08-01

Arginine and Citrulline for the Treatment of MELAS Syndrome

by Ayman W. El-Hattab MD, FACMG, Mohammed Almannai MD, Fernando Scaglia MD, FACMG
Published 2017-03-01

L-Cysteine supplementation prevents liver transplantation in a patient with TRMU deficiency

by Claudia Soler-Alfonso, Nishita Pillai, Erin Cooney, Krupa R. Mysore, Suzanne Boyer, Fernando Scaglia
Published 2019-06-01

Lithologies, structure and basement-cover relationships in the schist belt of the Dom Feliciano Belt in Uruguay

by Henri Masquelin, Hernán Silva Lara, Leda Sánchez Bettucci, Pablo Núñez Demarco, Sofía Pascual, Rossana Muzio, Elena Peel, Fernando Scaglia

Severe Generalized Epidermolysis Bullosa Simplex in Two Hong Kong Children due to De Novo Variants in KRT14 and KRT5

by Shuk Ching Chong, Kam Lun Hon, Fernando Scaglia, Chung Mo Chow, Yu Ming Fu, Tor WoChiu, Alexander K. C. Leung
Published 2020-01-01

Early onset and severe clinical course associated with the m.5540G>A mutation in MT-TW

by Jorge L. Granadillo, Timothy Moss, Richard A. Lewis, Elise G. Austin, Howard Kelfer, Jing Wang, Lee-Jun C. Wong, Fernando Scaglia
Published 2014-01-01

Sequencing data of cell-free DNA fragments in living-related liver transplantation for inborn errors of metabolism

by Xiaofan Zhu, Hoi Ioi Ng, Liming Xuan, Yan Long, Yan Mao, Yu Shi, Liying Sun, Bo Liang, Fernando Scaglia, Zhijun Zhu, Kwong Wai Choy
Published 2020-04-01

Characterization of the renal phenotype in RMND1‐related mitochondrial disease

by Brian J. Shayota, Nhon T. Le, Nasim Bekheirnia, Jill A. Rosenfeld, Amy C. Goldstein, Michael Moritz, Dennis W. Bartholomew, Matthew T. Pastore, Fan Xia, Christine Eng, Yaping Yang, Dolores J. Lamb, Fernando Scaglia, Michael C. Braun, Mir Reza Bekheirnia
Published 2019-12-01

Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study

by Robin P. Goin-Kochel PhD, Fernando Scaglia MD, Christian P. Schaaf MD, PhD, Leandra N. Berry PhD, Dianne Dang, Kerri P. Nowel PhD, Anna L. Laakman, Lauren R. Dowell, Charles G. Minard PhD, Alvin Loh MD, Arthur L. Beaudet MD
Published 2019-02-01

A mitogenomic timetree for Darwin’s enigmatic South American mammal Macrauchenia patachonica

by Michael Westbury, Sina Baleka, Axel Barlow, Stefanie Hartmann, Johanna L.A. Paijmans, Alejandro Kramarz, Analía M Forasiepi, Mariano Bond, Javier N. Gelfo, Marcelo A. Reguero, Patricio López-Mendoza, Matias Taglioretti, Fernando Scaglia, Andrés Rinderknecht, Washington Jones, Francisco Mena, Guillaume Billet, Christian de Muizon, José Luis Aguilar, Ross D.E. MacPhee, Michael Hofreiter
Published 2017-06-01