Publicaciones en las que colabora con Lidia Castro Feijoo (11)
2011
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Congenital hypothyroidism with neurological and respiratory alterations: A case detected using a variable diagnostic threshold for Tsh
JCRPE Journal of Clinical Research in Pediatric Endocrinology, Vol. 3, Núm. 4, pp. 208-211
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Evolutionary analyses of entire genomes do not support the association of mtdna mutations with ras/mapk pathway syndromes
PLoS ONE, Vol. 6, Núm. 4
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Genetic diagnosis of X-linked dominant hypophosphatemic rickets in a cohort study: Tubular reabsorption of phosphate and 1,25(OH)2D serum levels are associated with PHEX mutation type
BMC Medical Genetics, Vol. 12
2008
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Hypochondroplasia and acanthosis nigricans: A new syndrome due to the p.Lys650Thr mutation in the fibroblast growth factor receptor 3 gene?
European Journal of Endocrinology, Vol. 159, Núm. 3, pp. 243-249
2007
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Hipoglucemia neonatal
Anales de Pediatria
2005
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Genetic basis of short stature
Journal of Endocrinological Investigation
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Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein
Journal of Pediatric Endocrinology and Metabolism, Vol. 18, Núm. 6, pp. 545-548
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Papillary thyroid carcinoma after recombinant GH therapy for Turner syndrome
European Journal of Endocrinology, Vol. 153, Núm. 4, pp. 499-502
2004
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Therapeutic optimization of growth hormone deficiency in children and adolescents
Journal of Pediatric Endocrinology and Metabolism, Vol. 17, Núm. SUPPL. 3, pp. 401-410
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Tratamiento combinado con análogos de GnRH y GH
Anales de Pediatria, Vol. 60, pp. 15-23
2003
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Optimización terapéutica del déficit de hormona de crecimiento en niños y adolescentes
Anales de Pediatria, Vol. 58, Núm. SUPPL. 2, pp. 3-11