Zobrazeno 1 - 10 of 33 pro vyhledávání: '"F, Castelló Girona"'
1
Enfermedad de Gaucher (homozigoto D409H/D409H): evolución con tratamiento enzimático sustitutivo
Autor: M. del Toro Riera, A. Chabas Bergón, C. Domínguez Luengo, F. Castelló Girona
Publikováno v: Anales de Pediatría, Vol 54, Iss 3, Pp 310-312 (2001)
La enfermedad de Gaucher se debe a mutaciones en el gen que codifica la glucocerebrosidasa. La mutación D409H es la tercera más frecuente en España y produce un fenotipo particular con apraxia oculomotora y calcificaciones cardiovasculares de pres
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::900ff2a3fba806831fea02fce483a6b2
https://doi.org/10.1016/s1695-4033(01)77532-7
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2
[Gaucher's disease with D409H/D409H genotype. evolution with enzyme replacement therapy]
Autor: F, Castelló Girona, C, Domínguez Luengo, M, del Toro Riera, A, Chabás Bergon
Publikováno v: Anales espanoles de pediatria. 54(3)
Gaucher's disease is caused by mutations in the gene encoding glucocerebrosidase. The D409H mutation is the third most frequent mutation in Spain and has been associated with a particular phenotype, including oculomotor apraxia and cardiac valvular c
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5e207bfa3b3ac7861dd3de5db709dae5
https://pubmed.ncbi.nlm.nih.gov/11262263
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4
[Renovascular hypertension due to unilateral renal artery stenosis with hypokalemic alkalosis, the salt-losing syndrome and reversible hyperechogenicity of the contralateral kidney. A study of 2 infants]
Autor: F, Castelló Girona, D, Yeste Fernández, R, Porta Ribera, G, Enríquez Cívicos
Publikováno v: Anales espanoles de pediatria. 45(1)
This report describes two infants with severe arterial hypertension secondary to unilateral renal artery stenosis which was manifested by polyuria, polydipsia, hypokalemic alkalosis, hyponatremia, increased natriuresis and increased plasma values of
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::e6c8f7fa3e583f5131398b8d9e5ec4fc
https://pubmed.ncbi.nlm.nih.gov/8849130
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8
[Evolution and treatment of 19 cases of pertussis in infants under 4 months of age]
Autor: F, Castillo Salinas, E, Soler Mir, U, Aguilera Jacobsen, M, Martín González, F, Castelló Girona, M, Olsina García, A, Ferrer Marcelles
Publikováno v: Anales espanoles de pediatria. 36(4)
We present 19 cases of pertussis in infants under 4 months of age. In all cases, Bordetella pertussis was isolated from nasopharyngeal swabs. A whooping cough, cyanotic episodes and eating disturbances were the most characteristic clinical findings.
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::cab43fb0c8c154db03268b314c67a684
https://pubmed.ncbi.nlm.nih.gov/1605413
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10
[Vesicoureteral reflux in the first year of the life (author's transl)]
Autor: F, Castelló Girona, L, Callis Bracons, R, Gosálbez Jordá
Publikováno v: Anales espanoles de pediatria. 16(1)
A group of 50 children in the first year of life with vesicoureteric reflux (VUR) has been followed-up for a period of two-eleven years. VUR has been classified in four grades according to Hertz's criteria. Clinical evolution and renal scarring have
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::256703e3a150f0811384e6230ac0390c
https://pubmed.ncbi.nlm.nih.gov/7081855
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