Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Carlos Robles-Valdés"'
Autor:
Mabel Cerrillo-Hinojosa, Nelly Altamirano-Bustamante, Carlos Robles-Valdés, María Teresa Tusié-Luna, Raúl Calzada-León, Antonio Ulises López-Gutierrez, F. Mendoza-Morfin, María Luisa Ordóñez-Sánchez, Salvador Ramírez-Jiménez, Salvador Gamboa-Cardiel, Laura Riba
Publikováno v:
Human Genetics. 102:170-177
Steroid 21-hydroxylase deficiency is the underlying cause in over 90% of patients with congenital adrenal hyperplasia, an inherited metabolic disorder of adrenal steroidogenesis. We have characterized 94 mutant alleles from 47 unrelated Mexican patie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1586d8ce8cb223d2ff5867435e21fd10
https://doi.org/10.1007/s004390050672
https://doi.org/10.1007/s004390050672
Autor:
Nelly, Altamirano-Bustamante, Laura, Islas-Ortega, Carlos, Robles-Valdés, Juan, Garduño-Espinosa, Gabriela, Morales-Cisneros, Alejandro, Valderrama, Raúl, Calzada-León, M Luisa, Cuevas, José Luis, Xancopinca, Myriam M, Altamirano-Bustamante
Publikováno v:
Journal of pediatric endocrinologymetabolism : JPEM. 21(12)
To appraise the economic burden for families of patients with type 1 diabetes mellitus (DM1) at the Instituto Nacional de Pediatria in Mexico City.DM1 family direct costs were obtained from a standardized economic survey in 59 children with no chroni
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e4fd0885d4b3d37df46ceb2f875b7922
https://pubmed.ncbi.nlm.nih.gov/19189690
https://pubmed.ncbi.nlm.nih.gov/19189690
Autor:
Juan Garduño-Espinosa, Myriam M. Altamirano-Bustamante, Laura Islas-Ortega, Ma. Luisa Cuevas, Alejandro Valderrama, José Luis Xancopinca, Nelly F. Altamirano-Bustamante, Raúl Calzada-León, Gabriela Morales-Cisneros, Carlos Robles-Valdés
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 21
AIM To appraise the economic burden for families of patients with type 1 diabetes mellitus (DM1) at the Instituto Nacional de Pediatria in Mexico City. PATIENTS AND METHODS DM1 family direct costs were obtained from a standardized economic survey in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::48e9dcf798cdf7bd57097f6e8ea20520
https://doi.org/10.1515/jpem.2008.21.12.1163
https://doi.org/10.1515/jpem.2008.21.12.1163
Autor:
Aarón, Domínguez-López, Angel, Miliar-García, Yayoi X, Segura-Kato, Laura, Riba, Riba, Esparza-López, Salvador, Ramírez-Jiménez, Maribel, Rodríguez-Torres, Samuel, Canizales-Quinteros, Siraam, Cabrera-Vásquez, Verónica, Fragoso-Ontiveros, Carlos A, Aguilar-Salinas, Nelly, Altamirano-Bustamante, Raúl, Calzada-León, Carlos, Robles-Valdés, Luz E, Bravo-Ríos, Maria Teresa, Tusié-Luna
Publikováno v:
JOP : Journal of the pancreas. 6(3)
Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes mellitus characterized by autosomal dominant inheritance, early age of onset and a primary insulin secretion defect. Certain MODY gene sequence variants may be involved in po
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::3f5b8075ea7239617c6e4d85e8ac13bd
https://pubmed.ncbi.nlm.nih.gov/15883474
https://pubmed.ncbi.nlm.nih.gov/15883474
Autor:
Raúl Calzada León, Joel Oyoqui, María de la Luz Ruiz Reyes, Nelly Altamirano Bustamante, Victoria Del Castillo Ruiz, Carlos Robles Valdés
Publikováno v:
Journal of Pediatric Endocrinology and Metabolism. 16
This was a prospective, longitudinal and descriptive study of 117 Mexican girls with Turner's syndrome (TS) followed from diagnosis to 18 years old. Height, weight and growth velocity were evaluated every 4-6 months, and bone age was assessed annuall
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e643b9d02651e56a3d2ef8224c637ac8
https://doi.org/10.1515/jpem.2003.16.8.1165
https://doi.org/10.1515/jpem.2003.16.8.1165
Autor:
F. Mendoza-Morfin, Ma. Luisa Ordonez-Sanchez, Salvador Ramírez-Jiménez, Juan Pablo Méndez, Nelly Altamirano-Bustamante, Carlos Robles-Valdés, Javier Cabello-Villegas, Raúl Calzada-León, Ma. Teresa Tusié-Luna, Margarita Teran-Garcia
Publikováno v:
Human genetics. 98(3)
Steroid 21-hydroxylase deficiency is caused by mutations in the CYP21 gene. Approximately 95% of mutant alleles are generated by recombination events between the acitve gene CYP21 and its highly homologous pseudogene, CYP21P. Deletion alleles are gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::efaf846d8ebaf57892e5e4a7bc2e0572
https://pubmed.ncbi.nlm.nih.gov/8707311
https://pubmed.ncbi.nlm.nih.gov/8707311
Publikováno v:
The Journal of Pediatrics. 94:631-632
1. Dancis J, Hurzler J, Snyderman SE, and Cox RP: Enzyme activity in classical and variant forms of maple syrup urine disease, J PEDIATR 81:312, 1972. 2. Fischer MH, and Gerritsen T: Biochemical studies on a variant of branched-chain ketoaciduria in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17dc2c4cfd990b0e77a98095daf78c3c
https://doi.org/10.1016/s0022-3476(79)80037-2
https://doi.org/10.1016/s0022-3476(79)80037-2