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Hugo Hernan Abarca-Barriga

Explore the profile of Hugo Hernan Abarca-Barriga including associated specialties, affiliations and a list of published articles. Areas
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Recent Articles
1.
Barba A, Meza P, Abarca-Barriga H
Intractable Rare Dis Res . 2024 Dec; 13(4):236-244. PMID: 39628625
Osteogenesis imperfecta (OI) is a genetic disorder of the connective tissue that is characterized by high bone fragility. It has a worldwide incidence of 1 in 10,000. The diagnosis is...
2.
Abarca-Barriga H, Laso-Salazar M, Orihuela-Tacuri D, Chirinos-Saire J, Venero-Nunez A
BMC Pediatr . 2024 Mar; 24(1):161. PMID: 38454379
Background: Fanconi-Bickel syndrome is characterized by hepatorenal disease caused by anomalous glycogen storage. It occurs due to variants in the SLC2A2 gene. We present a male patient of 2 years...
3.
Vasquez Sotomayor F, Abarca-Barriga H
J Pediatr Genet . 2019 Aug; 8(3):147-152. PMID: 31406621
We report the first case in Peru of cystic fibrosis caused by a homozygous deletion of the cystic fibrosis transmembrane conductance regulator ( ) gene. A 10-month-old child who presented...