Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Ana E. Paschini-Capra"'
Autor:
Chi Jiunn Pan, Raquel Dodelson de Kremer, Carlos E. Argaraña, Ana E. Paschini-Capra, Celia J. Angaroni, Janice Y. Chou, Roberto J. Pezza, Alicia N. Giner-Ayala
Publikováno v:
Molecular Genetics and Metabolism. 83:276-279
Glycogen storage disease type Ia (GSD-Ia) is caused by deleterious mutations in the glucose-6-phosphatase gene (G6PC). A molecular study of this gene was carried out in 11 Argentinean patients from 8 unrelated families. Four missense (p.Gln54Pro, p.A
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::722488d4345d8d97e9fe3cdd13a4101b
https://doi.org/10.1016/j.ymgme.2004.06.010
https://doi.org/10.1016/j.ymgme.2004.06.010
Autor:
Gabriel Civallero, Carlos Quiroga Mayor, Catalina Depetris-Boldini, E. Regula Baumgartner, Terttu Suormala, Norberto Guelbert, Ana E. Paschini-Capra, Laura E. Laróvere, Raquel Dodelson de Kremer, Alexandra Latini
Publikováno v:
Metabolic Brain Disease. 17:13-18
We report the first case of isolated biotin resistant 3-methylcrotonyl-CoA carboxylase (MCC) deficiency in Argentina. The diagnosis was established at 14 months of age by urinary organic-acid analysis and confirmed by enzyme assay in fibroblasts. The
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::4167b330885ad5070a38ca4816b8d177
https://doi.org/10.1023/a:1014096112916
https://doi.org/10.1023/a:1014096112916
Autor:
Richard I. Kelley, Ana María Oller-Ramírez, Ricardo Theaux, Inés Noher de Halac, Ana E. Paschini-Capra, E. Hliba, Iris Gonzalez, Raquel Dodelson de Kremer, Ernesto Juaneda, Alicia N. Giner-Ayala, Gabriel Civallero, Celia J. Angaroni, Norberto Guelbert, Roy Proujansky, Carlos E. Argaraña, Alexandra Latini, Sandra Bacman, Catalina Depetris-Boldini, Jennifer Johnston
Publikováno v:
American Journal of Medical Genetics. 99:83-93
An Argentine male child died at 4.5 years of age of a lethal mitochondrial disease associated with a MELAS mutation and a Barth syndrome-like presentation. The child had severe failure to thrive from the early months and for approximately two years t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::81ba60e110de38cd31417d525368a488
https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1136>3.0.co
https://doi.org/10.1002/1096-8628(2001)9999:9999<::aid-ajmg1136>3.0.co
Autor:
Norberto Guelbert, Ana María Oller-Ramírez, Gabriel Civallero, Celia J. Angaroni, Catalina Depetris-Boldini, Alicia N. Giner-Ayala, R. Dodelson de Kremer, Laura E. Laróvere, Ana E. Paschini-Capra, Alexandra Latini
Publikováno v:
Acta Paediatrica. 91:117-117
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a65f2b4fcef3fd1a0c16730382a0269f
https://doi.org/10.1111/j.1651-2227.2002.tb03125.x
https://doi.org/10.1111/j.1651-2227.2002.tb03125.x