Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Laura Ventura-Espejo"'
Autor:
Laura Ventura-Espejo, Inés Gracia-Darder, Silvia Escribá-Bori, Eva Regina Amador-González, Ana Martín-Santiago, Jan Ramakers
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-7 (2021)
Abstract Background H syndrome (HS) is a rare autoinflammatory disease caused by a mutation in the solute carrier family 29, member 3 (SCL29A3) gene. It has a variable clinical presentation and little phenotype-genotype correlation. The pathognomonic
Externí odkaz:
https://doaj.org/article/3ef28ee92e6f4e1cb24842a11bb17c1d
Autor:
Silvia Escribá-Bori, Jan Ramakers, Eva Regina Amador-González, Laura Ventura-Espejo, Ana Martín-Santiago, Inés Gracia-Darder
Publikováno v:
Pediatric Rheumatology Online Journal
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-7 (2021)
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-7 (2021)
Abstract Background H syndrome (HS) is a rare autoinflammatory disease caused by a mutation in the solute carrier family 29, member 3 (SCL29A3) gene. It has a variable clinical presentation and little phenotype-genotype correlation. The pathognomonic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::82478946eb167fdbb23f94cef311c0a4
https://pubmed.ncbi.nlm.nih.gov/34193201
https://pubmed.ncbi.nlm.nih.gov/34193201
Autor:
Patricia Martínez-Cepas, Joana María Riera-Llodrá, Nadal Riutord-Arrom, Antonio Rosell-Camps, Laura Ventura-Espejo
Publikováno v:
Laboratory medicine. 51(4)
Benign pancreatic hyperenzymemia, also known as Gullo’s syndrome, is a little-known syndrome first described in 1996 in patients studied for an elevation of pancreatic enzymes while otherwise being asymptomatic. We describe the case of a 2-year-old
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9060d2836edf529da26c30ce61cff9fe
https://pubmed.ncbi.nlm.nih.gov/31860089
https://pubmed.ncbi.nlm.nih.gov/31860089