Concepedia

Author

Jose A. Camacho

University of California, Irvine

Also Known As

Jose A. Camacho, Jose Camacho, José A Camacho, José Angel Camacho

6

Publications

342

Citations

5

H-Index

17

Concepts

All Affiliations

University of California, IrvineUniversity of Oklahoma Health Sciences CenterHoward Hughes Medical InstituteKaiser Permanente
JA

About

Jose A. Camacho is an author at University of California, Irvine specializing in medicine, genetics, and urology.

Top Concepts

#ConceptH-IndexPublicationsCitations

1

Medicine

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4

327

2

Molecular Genetics

2

2

252

3

Metabolism

1

1

41

4

Molecular Medicine

1

1

34

5

Nephrology

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1

41

Jose A. Camacho

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5

Publications

338

Citations

5

H-Index

YearCitations

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

Jose A. Camacho, Cassandra Obie, Barbara J. Biery,

Nature Genetics

1999

204

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,

The American Journal of Human Genetics

2020

48

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,

Molecular Genetics and Metabolism

2003

41

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,

Pediatric Research

2006

34

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

Kamer Tezcan, Kristal T. Louie, Yong Qu,

JIMD Reports

2011

11

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