Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience

Autor: Laura E. Laróvere BSc, PhD, Silene M. Silvera Ruiz BSc, PhD, José A. Arranz MD, PhD, Raquel Dodelson de Kremer MD, PhD

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)

X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Hemizygous males with complete deficiency manifest neonatal acute hyperammonemia, while those with partial deficiency have a late presentation. The symptoma

Externí odkaz: https://doaj.org/article/3e7cea10808345dcacb8d9b72e7e6415

Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report

Autor: Silene M. Silvera-Ruiz, Corinne Gemperle, Natalia Peano, Valentina Olivero, Adriana Becerra, Johannes Häberle, Adriana Gruppi, Laura E. Larovere, Ruben D. Motrich

Publikováno v: Frontiers in Immunology, Vol 13 (2022)

The hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare autosomal recessive inborn error of the urea cycle caused by mutations in the SLC25A15 gene. Besides the well-known metabolic complications, patients often present interc

Externí odkaz: https://doaj.org/article/c92001fc03194901a78006c1af473c3c

Eficácia da suplementação de citrulina para diminuir o risco de hipertensão pulmonar após cirurgia de cardiopatia congênita. Uma experiência local

Autor: Marcelo Cabrera, Laura E. Laróvere, Margot Tablada, Raquel Dodelson de Kremer, Ernesto Juaneda, Silene M. Silvera Ruiz, Carola Grosso

Publikováno v: Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNC
Revista de la Facultad de Ciencias Médicas de Córdoba, Vol 77, Iss 4, Pp 249-253 (2020)
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET

Pulmonary hypertension (PH) is a major cause of morbi-mortality among patients with congenital heart disease (CHD) and also a potentially severe complication after surgical repair. Oral citrulline, a precursor to NO synthesis, is safe and efficacious

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::084f8a3b8000f91978a1da896deff7fa
https://pubmed.ncbi.nlm.nih.gov/33351387

Mutation Spectrum and Genotype–Phenotype Correlation in a Cohort of Argentine Patients with Ornithine Transcarbamylase Deficiency: A Single-Center Experience

Autor: Silene M. Silvera Ruiz, Raquel Dodelson de Kremer, José Antonio Arranz, Laura E. Laróvere

Publikováno v: Journal of Inborn Errors of Metabolism and Screening v.6 2018
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 6, Article number: e18009, Published: 28 FEB 2019
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Journal of Inborn Errors of Metabolism and Screening, Vol 6 (2018)

X-linked ornithine transcarbamylase deficiency (OTCD) is the most common urea cycle disorder. Hemizygous males with complete deficiency manifest neonatal acute hyperammonemia, while those with partial deficiency have a late presentation. The symptoma

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95a3e2376885c8b39872afb0d6eea566
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942018000100313

Impact of CPS1 Gene rs7422339 Polymorphism in Argentine Patients With Hyperhomocysteinemia

Autor: Carola Grosso, Silene M. Silvera-Ruiz, Laura E. Laróvere, Raquel Dodelson de Kremer

Publikováno v: Journal of Inborn Errors of Metabolism and Screening. 3:232640981558625

Carbamoyl phosphate synthetase 1 (CPS1) is a key gene in the first step of urea cycle and has been correlated with nitric oxide level and vascular smooth muscle activity. A functional single-nucleotide polymorphism C/A at position 4217 in CPS1 (Natio

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3bc28cde29deaef22891f9d1a5d20b44
https://doi.org/10.1177/2326409815586253