Zobrazeno 1 - 10 of 19 pro vyhledávání: '"Hernán, Eiroa"'
1
Akademický článek
Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico
Autor: Ana Chiesa, Norma Spécola, Monique Poubel, Marcela Vela-Amieva, Elaina Jurecki, Daniel RF Vilela, Débora Mesojedovas, Giovanna Cavalcanti Carneiro, Hernán Eiroa, Keila Hayashi Nakamura, Marcela Lopes de Almeida, Roberta Brandão Cunha, Tatiana Amorim, Ida Vanessa Doederlein Schwartz
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101026- (2024)
Objective: To characterize adherence to Phenylketonuria (PKU) management practices among PKU patients treated at reference sites around Argentina, Brazil, and Mexico. Methods: This is a retrospective, observational, multicenter, and multinational sur
Externí odkaz: https://doaj.org/article/b038d5ca4f6549c78195a752e821b2b7
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2
Akademický článek
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele
Autor: Carolina Crespo, Hernán Eiroa, María Inés Otegui, Mara Cecilia Bonetto, Lilien Chertkoff, Luis Pablo Gravina
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 25, Iss , Pp 100695- (2020)
Background: Classical galactosemia is an autosomal recessive inherited metabolic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. GALT enzyme deficiency leads to the accumulation of galactose-1-phosphate in var
Externí odkaz: https://doaj.org/article/068457ff54c743868ab8415cdf1925cf
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3
Initial management of acute hyperammonemia in pediatrics
Autor: Hernán, Eiroa, Consuelo, Durand, Marina, Szlago, Marcela, Pereyra, Mariana, Nuñez, Norberto, Guelbert, Gabriela, Pacheco, Soledad, Kleppe
Publikováno v: Archivos argentinos de pediatria.
Hyperammonemia is a medical emergency. There are no publications regarding the availability of resources, supplies, and knowledge necessary for the initial management of hyperammonemia by pediatricians in Argentina; however, according to the authors'
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::706621a491ebe482318e5bf5cd90d9b1
https://pubmed.ncbi.nlm.nih.gov/36287611
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4
Clinical and Genetic Characterization and Biochemical Correlation at Presentation in 48 Patients Diagnosed with Urea Cycle Disorders at the Hospital Juan P Garrahan, Argentina
Autor: Carolina Crespo, Hernán Eiroa, Ana Clara Bernal, Maria Cruz Tubio
Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200026, Published: 04 AUG 2021
The clinical and biochemical findings in a cohort of 51 patients with urea cycle disorders followed at the Hospital Garrahan, Buenos Aires, Argentina were analyzed at the time of diagnosis (3 female patients were excluded). Of this cohort, 13/48 pati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f3dce0008c3c4f5efa861c5f93aa7ab
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100320&tlng=en
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5
Algunos desafíos en mucopolisacaridosis tipo I
Autor: Graciela Zuccaro, Hernán Eiroa, Hernan Amartino, Mariana Cazalas, Claudia Arberas, Adriana Berretta, Claudio A S Parisi, Guillermo Drelichman, Marcela Pereyra, Carmen De Cunto, Luisa Bay, Adriana Copiz, Alberto Maffey, Hugo Botto, Alejandro Fainboim, Virginia Fano, Graciela Espada, Andrea Schenone, Norberto Guelber, Alejandra Antacle, Rodrigo Remondino, Raquel Staciuk, Norma Spécola
Publikováno v: Archivos Argentinos de Pediatria. 119
Here we describe the current challenges of mucopolysaccharidosis type I: the need for an adequate classification, establishing its relationship to therapeutic indications; an early diagnosis, from neonatal screening, its advantages and barriers, to c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::27199487412c5fa7d22223a634696872
https://doi.org/10.5546/aap.2021.e193
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6
Clinical, Biochemical and Molecular Characterization of a Cohort of Glycogen Storage Disease Type I Patients in a High Complexity Hospital in Argentina
Autor: María Martinez, Verónica Bindi, Carolina Crespo, Luisa Bay, Hernán Eiroa
Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Glycogen storage disease type I is an autosomal recessive disorder of carbohydrate metabolism that manifests mainly by hepatomegaly and hypoglycemia with short fasts. Despite strict therapy, patients present long-term renal and liver complications. D
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c56d6a9df990cfd6f8b8981cc8d9e1b
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100307&tlng=en
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7
New recommendations for the care of patients with mucopolysaccharidosis type I
Autor: Hernán Eiroa, Hugo Botto, Alberto Maffey, Carmen De Cunto, Raquel Staciuk, Mariana Cazalas, Graciela Espada, Claudia Arberas, Adriana Copiz, Andrea Schenone, Rodrigo Remondino, Rorberto Guelber, Graciela Zuccaro, Norma Spécola, Alejandro Fainboim, Virginia Fano, Claudio A S Parisi, Marcela Pereyra, Alejandra Antacle, Guillermo Drelichman, Hernan Amartino, Adriana Berretta, Luisa Bay
Publikováno v: Archivos Argentinos de Pediatria. 119
Considering the advances made on mucopolysaccharidosis type I after the consensus study published by a group of experts in Argentina in 2008, recommendations about genetic testing, cardiological follow-up, airway care, hearing impairment detection, s
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78f00fce87e6c35ad4a0f761a7b43b27
https://doi.org/10.5546/aap.2021.eng.e121
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8
Clinical and molecular characterization of mitochondrial DNA disorders in a group of Argentinian pediatric patients
Autor: Cristina N. Alonso, Maria Saccoliti, Hernán Eiroa, Hilda Verónica Aráoz, Ana Lia Taratuto, Maria Gabriela Obregon, Gimena Gomez, Mariana Loos, Carlos Rugilo, Lía Mayorga, Fabiana Lubieniecki, Roberto Caraballo
Publikováno v: Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 27, Iss, Pp 100733-(2021)
Objective To describe the clinical and molecular features of a group of Argentinian pediatric patients with mitochondrial DNA (mtDNA) disorders, and to evaluate the results of the implementation of a classical approach for the molecular diagnosis of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e9cb593f34ea269824d9d582ab495c00
http://europepmc.org/articles/PMC7933530
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9
Molecular analysis of GALT gene in Argentinian population: Correlation with enzyme activity and characterization of a novel Duarte-like allele
Autor: María Inés Otegui, Lilien Chertkoff, Luis Pablo Gravina, Carolina Crespo, Mara Cecilia Bonetto, Hernán Eiroa
Publikováno v: Molecular Genetics and Metabolism Reports, Vol 25, Iss, Pp 100695-(2020)
Molecular Genetics and Metabolism Reports
Background Classical galactosemia is an autosomal recessive inherited metabolic disorder caused by mutations in the galactose-1-phosphate uridyltransferase (GALT) gene. GALT enzyme deficiency leads to the accumulation of galactose-1-phosphate in vari
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fc1d6bf7a92485f98307eab36ca2a772
http://www.sciencedirect.com/science/article/pii/S2214426920301415
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