Análises clínicas
Servicio
Publicacións nas que colabora con Jesús Barreiro Conde (13)
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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Pituitary stalk dysgenesis-induced hypopituitarism in adult patients: Prevalence, evolution of hormone dysfunction and genetic analysis
Neuroendocrinology, Vol. 93, Núm. 3, pp. 181-188
2009
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Perspectivas actuales en el tratamiento del hiperinsulinismo congénito
Acta pediátrica española, Vol. 67, Núm. 3, pp. 103-111
2007
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Hipoglucemia neonatal
Anales de Pediatria
2006
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High variability in CYP21A2 mutated alleles in Spanish 21-hydroxylase deficiency patients, six novel mutations and a founder effect
Clinical Endocrinology, Vol. 64, Núm. 3, pp. 330-336
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Mutation spectra of ABCC8 gene in Spanish patients with Hyperinsulinism of Infancy (HI).
Human mutation, Vol. 27, Núm. 2, pp. 214
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
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
2002
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Novel mutation involving the translation initiation codon of the growth hormone receptor gene (GHR) in a patient with Laron syndrome
Journal of Pediatric Endocrinology and Metabolism, Vol. 15, Núm. 7, pp. 1041-1045
1999
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The C494F variant in the CYP11B1 gene is a sequence polymorphism in the Spanish population [5]
Journal of Clinical Endocrinology and Metabolism