Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Giner-Ayala AN"'
Publikováno v:
Journal of Clinical and Scientific Research, Vol 10, Iss 4, Pp 197-201 (2021)
Background: Niemann-Pick disease type B is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid sphingomyelinase (ASM) coded by SMPD1 gene. Diagnostic assays for this enzyme were developed using fibroblasts, leukocytes, pl
Externí odkaz:
https://doaj.org/article/c529f8b8c75e49ff97bcd6c0072bc248
Autor:
Giner-Ayala, Alicia1, Juana Angaroni, Celia1, Dodelson de Kremer, Raquel1, Dora Martínez, Lidia1,2
Publikováno v:
Journal of Clinical & Scientific Research. Oct-Dec2021, Vol. 10 Issue 4, p197-201. 5p.
Autor:
Angaroni, Celia J., de Kremer, Raquel Dodelson, Argaraña, Carlos E., Paschini-Capra, Ana E., Giner-Ayala, Alicia N., Pezza, Roberto J., Pan, Chi-Jiunn, Chou, Janice Y.
Publikováno v:
In Molecular Genetics and Metabolism 2004 83(3):276-279
Publikováno v:
Journal of Clinical and Scientific Research, Vol 10, Iss 4, Pp 197-201 (2021)
Background: Niemann-Pick disease type B is an autosomal recessive lysosomal storage disorder caused by a deficiency of acid sphingomyelinase (ASM) coded by SMPD1 gene. Diagnostic assays for this enzyme were developed using fibroblasts, leukocytes, pl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9df91e2c49bfb642fae640d31a176ff5
https://doi.org/10.4103/jcsr.jcsr_95_20
https://doi.org/10.4103/jcsr.jcsr_95_20
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:
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:
Drelichman G, Fernández, Escobar N, Basack N, Aversa L, Kohan R, Watman N, Bolesina M, Elena G, Veber SE, Dragosky M, Annetta I, Feliu A, Sciuccati G, Cuello MF, Fynn A, Dodelson de Kremer R, Angaroni CJ, Giner-Ayala AN, Oller de Ramirez A, Guelbert NB, Delgado MA, Becerra A, Oliveri B, Larroudé MS, Masllorens FM, Szlago M, Schenone AB
Publikováno v:
Repositorio Digital Universitario (UNC)
Universidad Nacional de Córdoba
instacron:UNC
Universidad Nacional de Córdoba
instacron:UNC
La Enfermedad de Gaucher por su baja frecuencia está incluida dentro de las enfermedades huérfanas. En 1991 comenzó el ingreso de pacientes en el Registro Internacional de Gaucher. En 1992 se incorporaron los primeros dos pacientes de Latinoaméri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::7d9edca45c5f72f737645efa569b0b1d
Autor:
Dodelson De Kremer, Raquel, Paschini Capra, Ana, Bacman, Sandra, Argaraña, Carlos, Civallero, Gabriel, Kelley, Richard I., Guelbert, Norberto, Latini, Alexandra, Noher de Halac, Inés, Giner Ayala, Alicia, Johnston, Jennifer, Proujansky, Roy
Publikováno v:
Dodelson De Kremer, Raquel ORCID: https://orcid.org/0000-0003-4365-3661 , Paschini Capra, Ana, Bacman, Sandra ORCID: https://orcid.org/0000-0001-8701-6010 , Argaraña, Carlos ORCID: https://orcid.org/0000-0002-6169-3344 , Civallero, Gabriel, Kelley, Richard I. ORCID: https://orcid.org/0000-0001-9906-1345 , Guelbert, Norberto ORCID: https://orcid.org/0000-0003-3860-4750 , Latini, Alexandra ORCID: https://orcid.org/0000-0003-4255-3589 , Noher de Halac, Inés ORCID: https://orcid.org/0000-0003-2930-9282 , Giner Ayala, Alicia, Johnston, Jennifer and Proujansky, Roy (2001) Barth's syndrome-like disorder: A new phenotype with a maternally inherited A3243G substitution of mitochondrial DNA (MELAS mutation). American Journal of Medical Genetics, 99 (2). pp. 83-93. ISSN 0148-7299
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=od______2718::27f4868bc3979ab544de297014eaf576
http://pa.bibdigital.ucc.edu.ar/3930/
http://pa.bibdigital.ucc.edu.ar/3930/
Autor:
R D, De Kremer, A, Paschini-Capra, S, Bacman, C, Argaraña, G, Civallero, R I, Kelley, N, Guelbert, A, Latini, I, Noher de Halac, A, Giner-Ayala, J, Johnston, R, Proujansky, I, Gonzalez, C, Depetris-Boldini, A, Oller-Ramírez, C, Angaroni, R A, Theaux, E, Hliba, E, Juaneda
Publikováno v:
American journal of medical genetics. 99(2)
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=pmid________::490d351038f2e135c695550063309034
https://pubmed.ncbi.nlm.nih.gov/11241464
https://pubmed.ncbi.nlm.nih.gov/11241464
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