Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Cristina Cáceres-Marzal"'
Autor:
María-Luisa Moreno-Tejero, Julián Vaquerizo-Madrid, Ana Guerrero-Rico, Juan J. Cardesa-García, Ana-María Grande-Tejada, Cristina Cáceres-Marzal, Moises Zambrano-Castaño, Enrique Galán-Gómez, Santiago Fernández-Hernández
Publikováno v:
European Journal of Medical Genetics. 51:268-271
We present a 3-year-old boy affected with Hunter syndrome. When we first evaluated the patient glycosaminoglycans (GAG) in urine were elevated (94.6 ng/nmol/creatinine); the enzyme activity determined in serum was decreased (3.9 nmol/hxml) and the mu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a71680c0fe86301a8932462433098593
https://doi.org/10.1016/j.ejmg.2008.02.005
https://doi.org/10.1016/j.ejmg.2008.02.005
Autor:
Jorge Solana, Julián Vaquerizo, Enrique Galán, Bernardo de Arévalo, Cristina Cáceres-Marzal, Mercedes García-Reymundo
Publikováno v:
American Journal of Medical Genetics Part A. :1768-1770
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::88f5a2425e99f0811d1e42fe02acc34d
https://doi.org/10.1002/ajmg.a.32317
https://doi.org/10.1002/ajmg.a.32317
Publikováno v:
Pediatric neurology. 35(4)
Alexander disease is a neurodegenerative disorder characterized by macrocephaly and progressive demyelination with frontal lobe preponderance. The infantile form, the most frequent variant, appears between birth and 2 years of age and involves a seve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e27ede90ff8d5f8da308f74da9d1f883
https://pubmed.ncbi.nlm.nih.gov/16996408
https://pubmed.ncbi.nlm.nih.gov/16996408