Jose A. Camacho

Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Jose A. Camacho, Cassandra Obie, Barbara J. Biery et al. · Nature Genetics · 1999 · 204 citations

Mitochondrial Ornithine Transporter, Urology, Mendelian Disorder +8

BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms

Scott Barish, Tahsin Stefan Barakat, Brittany C. Michel et al. · The American Journal of Human Genetics · 2020 · 48 citations · Full text

Functional Genomics, Disease Mechanism, Genetic Disorder +10

Cloning and characterization of human ORNT2: a second mitochondrial ornithine transporter that can rescue a defective ORNT1 in patients with the hyperornithinemia–hyperammonemia–homocitrullinuria syndrome, a urea cycle disorder

Jose A. Camacho, Natalia Rioseco‐Camacho, Darío Andrade et al. · Molecular Genetics and Metabolism · 2003 · 41 citations

Urea Cycle Disorder, Urology, Mitochondrial Function +8

Clinical and Functional Characterization of a Human ORNT1 Mutation (T32R) in the Hyperornithinemia-Hyperammonemia-Homocitrullinuria (HHH) Syndrome

Jose A. Camacho, Rebecca Mardach, Natalia Rioseco‐Camacho et al. · Pediatric Research · 2006 · 34 citations · Full text

Urology, Mendelian Disorder, Genetic Disorder +7

Adult-Onset Presentation of a Hyperornithinemia-Hyperammonemia-Homocitrullinuria Patient Without Prior History of Neurological Complications

Kamer Tezcan, Kristal T. Louie, Yong Qu et al. · JIMD Reports · 2011 · 11 citations · Full text