Search Results - "Labarta Aizpun, J I"

Delphi consensus on the diagnosis and treatment of patients with short stature in Spain: GROW-SENS study by Corripio-Collado, R., Fernández-Ramos, C., González-Casado, I., Moreno-Macián, F., López-Siguero, J.-P., Labarta-Aizpún, J.-I.

“…Purpose To identify consensus aspects related to the diagnosis, monitoring, and treatment of short stature in children to promote excellence in clinical…”
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Different expression of the Asn264LysfsX35 mutation of the GNAS gene in a family with pseudohypoparathyroidism. by de Arriba Muñoz, A, Labarta Aizpún, J I, Dehesa, E Mayayo, Calvo, M T, Pérez de Nanclares, G, Ferrández-Longás, A

“…Pseudohypoparathyroidism (PHP) is a heterogeneous group of endocrine diseases characterised by hypocalcaemia, hyperphosphataemia and resistance to PTH. There…”
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Autosomal dominant osteopetrosis: a presentation of 3 cases and a new gene mutation by Janer Subías, E, de Arriba Muñoz, A, García Iñiguez, J P, Ferrer Lozano, M, Sanchez Del Pozo, J, Labarta Aizpun, J I

“…Osteopetrosis (OP) is a congenital bone disease which is caused by a functional disorder in osteoclasts with inability for normal bone resorption, leading to…”
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Type 1 polyglandular autoimmune syndrome associated with C322fsx372 mutation by Roncalés-Samanes, P, de Arriba Muñoz, A, Lou Francés, G M, Ferrer Lozano, M, Justa Roldán, M L, Labarta Aizpun, J I

“…Polyglandular autoimmune syndromes are rare diseases based on autoimmune mechanisms in which endocrine and non-endocrine disorders coexist. In type 1 the…”
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Diferente expresividad de la mutacion Asn264LysfsX35 del gen GNAS en una familia afecta de pseudohipoparatiroidismo by de Arriba Muñoz, A, Labarta Aizpún, J.I, Dehesa, E. Mayayo, Calvo, M.T, Pérez de Nanclares, G, Ferrández-Longás, A

“…Resumen El pseudohipoparatiroidismo (PHP) comprende un grupo heterogéneo de enfermedades endocrinológicas que se caracterizan por la existencia de…”
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Cleft palate and cleft lip. Clinical review by García Romero, R, Martín de Vicente, C, Gracia Cervero, E, Gros Esteban, D, Ureña Hornos, T, Labarta Aizpun, J I, Altemir, Hernández, Escartín Villacampa, R, Rebage Moisés, V

“…The aim of this study is to do an analytical study of cleft palate and cleft lip in our hospital. 85 clinical charts of patients attended in our hospital born…”
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Congenital adrenal hyperplasia due to lack of 17α-hydroxylase: a report of a new mutation in the gene CYP17A1 by Perales Martínez, J I, Pina Marqués, B, de Arriba Muñoz, A, Mayayo Dehesa, E, Labarta Aizpún, J I, Loidi Fernández, L

“…P450c17 enzyme catalyses two different reactions: the 17α-hydroxylation of progesterone and pregnenolone, and segmenting the carbon 17-20 binding from the…”
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Síndrome del lactante zarandeado y osteogénesis imperfecta by Cabrerizo de Diago, Raquel, Ureña Hornos, Trinidad, Conde Barreiro, S., Labarta Aizpun, J.I., Peña Segura, José Luis, López Pisón, Javier

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Shaken baby syndrome and osteogenesis imperfecta by Cabrerizo de Diago, R, Ureña-Hornos, T, Conde-Barreiro, S, Labarta-Aizpun, J, Peña-Segura, J L, López-Pisón, J

“…Shaken baby syndrome (SBS) is a form of physical abuse that includes the presence of a subdural or subarachnoid haematoma or diffuse cerebral oedema, retinal…”
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Hipopituitarismo. Una causa poco frecuente de retraso psicomotor by López Úbeda, M, de Arriba Muñoz, A, Abenia Usón, P, Labarta Aizpún, J.I

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Study of bone mass in patients with growth hormone deficiency by Cancer Gaspar, E, Ruiz-Echarri Zelaya, M, Labarta Aizpún, J I, Mayayo Dehesa, E, Ferrández Longás, A

“…To evaluate bone mineral density by radiogrametric study of metacarpal bone diameter and cortical thickness in patients with growth hormone deficiency (GHD)…”
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Study of bone mass in Turner syndrome by Cancer Gaspar, E, Ruiz-Echarri Zelaya, M, Labarta Aizpún, J I, Mayayo Dehesa, E, Ferrández Longás, A

“…To evaluate bone mass in patients with Turner syndrome by measuring metacarpal cortical thickness and bone diameter before and after treatment with…”
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Dog bites in children. Epidemiologic and clinical study of 144 cases by Gracia Romero, J, Labarta Aizpun, J I, Monreal Gálvez, M J, Elías Pollina, J

“…We have done a prospective study of 144 cases of dog bites in children between 1 and 13 years of age that were attended at the Emergency Department of the…”
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Estudio de la masa ósea en el déficit de hormona de crecimiento by Cancer Gaspar, E., Ruiz-Echarri Zelaya, M., Labarta Aizpún, J.I., Mayayo Dehesa, E., Ferrández Longás, A.

“…Evaluar la masa ósea con la medida de la cortical y el diámetro metacarpianos en pacientes con déficit de hormona de crecimiento (GH), antes y durante el…”
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Estudio de la masa ósea en el síndrome de Turner by Cancer Gaspar, E., Ruiz-Echarri Zelaya, M., Labarta Aizpún, J.I., Mayayo Dehesa, E., Ferrández Longás, A.

“…Evaluar la masa ósea con la medida de la cortical y diámetro metacarpianos en pacientes con síndrome de Turner, antes y durante el tratamiento con hormona de…”
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Hypopituitarism: An uncommon cause of developmental delay by López Úbeda, M, de Arriba Muñoz, A, Abenia Usón, P, Labarta Aizpún, J I

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Hormonal reference values for adrenocortical function in healthy children from Zaragoza by Cortés-Blanco, A, Ferrández Longás, A, Mayayo Dehesa, E, Labarta Aizpún, J I, Martínez-Lázaro, R

“…Estimation of reference values for basal serum concentrations of adrenocorticotropic hormone (ACTH), cortisol, 11-deoxycortisol, 17-OH-progesterone (17-OHP),…”
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Reference values for thyroid hormones, thyrotropin and thyroglobulin in healthy children of Zaragoza by Cortés-Blanco, A, Mayayo Dehesa, E, Ferrández Longás, A, Labarta Aizpún, J I, Martínez-Lázaro, R

“…The purpose of this study was to estimate the basal serum concentration reference values for total T3 (T3), total T4 (T4), free T4 (FT4), thyrotropin (TSH) and…”
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Reference values for IGF-I, IGFBP-1, IGFBP-3 and osteocalcin in healthy children in Zaragoza by Cortés Blanco, A, Labarta Aizpún, J I, Ferrández Longás, A, Mayayo Dehesa, E

“…Our aim was to estimate reference values for basal serum concentrations of insulin-like growth factor (IGF)-I, IGF binding protein (IGFBP)-1, IGFBP-3 and…”
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Reference values of FSH, LH, total testosterone, free testosterone, 17-beta-estradiol and SHBG in healthy children in Zaragoza by Cortés Blanco, A, Ferrández Longás, A, Mayayo Dehesa, E, Labarta Aizpún, J I

“…Our purpose was to estimate reference values for basal serum concentrations of follicle-stimulating hormone (FSH), luteinizing hormone (LH), total…”
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