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Pediatric Research|April 28, 2006
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiencyStefan Kölker, Sven F Garbade, Cheryl R Greenberg, et al.Journal of Clinical Medicine|September 5, 2019
ADCK2 Haploinsufficiency Reduces Mitochondrial Lipid Oxidation and Causes Myopathy Associated with CoQ DeficiencyLuis Vázquez-Fonseca, Jochen Schaefer, Ignacio Navas-Enamorado, et al.American Journal of Human Genetics|October 15, 2021
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findingsMatthew P Wilson, Alejandro Garanto, Filippo Pinto E Vairo, et al.Journal of Inherited Metabolic Disease|July 18, 2020
Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH geneLaura Marti-Sanchez, Heidy Baide-Mairena, Anna Marcé-Grau, et al.Journal of Inherited Metabolic Disease|July 25, 2019
Clinical presentation and proteomic signature of patients with TANGO2 mutationsNadja Mingirulli, Angela Pyle, Denisa Hathazi, et al.Brain Communications|October 3, 2025
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new casesNatalia Juliá-Palacios, Gerard Muñoz-Pujol, Reza Maroofian, et al.Genome Medicine|April 5, 2022
Clinical implementation of RNA sequencing for Mendelian disease diagnosticsVicente A Yépez, Mirjana Gusic, Robert Kopajtich, et al.Mitochondrion|July 5, 2016
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disordersDelia Yubero, Raquel Montero, Miguel A Martín, et al.Journal of Inherited Metabolic Disease|February 12, 2019
Newborn screening for homocystinurias: Recent recommendations versus current practiceRebecca Keller, Petr Chrastina, Markéta Pavlíková, et al.Revista Espanola De Salud Publica|February 23, 2021
[Beginnings, evolution and current situation of the Newborn Screening Programs in Spain.]José Luis Marín Soria, José Manuel González de Aledo Castillo, Ana Argudo Ramírez, et al.Pageof 11