Lista de obras -

A proteomic approach to obesity and type 2 diabetes

artículo científico publicado en 2015

Clinical management of childhood hyperthyroidism with and without Down syndrome: a longitudinal study at a single center

artículo científico publicado en 2018

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

article by Giovanna Mantovani et al published August 2018 in Nature Reviews Endocrinology

Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study

scientific article published on 01 July 2019

Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

scientific article published on 25 April 2019

Frequent and Rare HABP2 Variants Are Not Associated with Increased Susceptibility to Familial Nonmedullary Thyroid Carcinoma in the Spanish Population

artículo científico publicado en 2018

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

artículo científico publicado en 2018

Heterozygous rare genetic variants in non-syndromic early-onset obesity

artículo científico publicado en 2019

Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options

artículo científico publicado en 2017

Insulin Resistance in Obese Children: What Can Metabolomics and Adipokine Modelling Contribute?

artículo científico publicado en 2020

Insulin resistance in prepubertal obese children correlates with sex-dependent early onset metabolomic alterations.

artículo científico publicado en 2016

LZTR1: Genotype Expansion in Noonan Syndrome

artículo científico publicado en 2019

Metabolomics allows the discrimination of the pathophysiological relevance of hyperinsulinism in obese prepubertal children.

artículo científico publicado en 2017

Metabolomics changes in patients with PAPP-A2 deficiency in response to rhIGF1 treatment

artículo científico publicado en 2018

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

artículo científico publicado en 2017

Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability

artículo científico publicado en 2016

Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study

artículo científico publicado en 2019

Proteomic analysis allows for early detection of potential markers of metabolic impairment in very young obese children

artículo científico publicado en 2014

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

artículo científico publicado en 2020

Response to growth hormone in patients with mutations

artículo científico publicado en 2018

SUN-529 Burden of Illness in Adults with Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry.

artículo científico publicado en 2019

Sex, puberty, and ethnicity have a strong influence on growth and metabolic comorbidities in children and adolescents with obesity: Report on 1300 patients (the Madrid Cohort)

artículo científico publicado en 2019

Skeletal dysplasias: New medical treatments

artículo científico publicado en 2016

The impact of intrauterine and extrauterine weight gain in premature infants on later body composition.

artículo científico publicado en 2017

Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency

artículo científico publicado en 2016

Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children

artículo científico publicado en 2014

Wind of change in pseudohypoparathyroidism and related disorders: New classification and first international management consensus

scientific article published on 01 October 2018

[Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders]

artículo científico publicado en 2018

[Influence of neonatal anthropometry on the comorbidities of the obese patient]

artículo científico publicado en 2018

[Parental obesity is associated with the severity of childhood obesity and its comorbidities]

artículo científico publicado en 2018

[The importance of socioeconomic factors in obesity studies. Authors reply]

scientific article published on 19 July 2019

[X-linked hypophosphatemic rickets due to mutations in PHEX: Clinical and evolutionary variability]

artículo científico publicado en 2016

Lista de obras de

A proteomic approach to obesity and type 2 diabetes

Clinical management of childhood hyperthyroidism with and without Down syndrome: a longitudinal study at a single center

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international Consensus Statement

Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study

Frequency and age at occurrence of clinical manifestations of disease in patients with hypophosphatasia: a systematic literature review

Frequent and Rare HABP2 Variants Are Not Associated with Increased Susceptibility to Familial Nonmedullary Thyroid Carcinoma in the Spanish Population

Heterozygous aggrecan variants are associated with short stature and brachydactyly: Description of 16 probands and a review of the literature

Heterozygous rare genetic variants in non-syndromic early-onset obesity

Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options

Insulin Resistance in Obese Children: What Can Metabolomics and Adipokine Modelling Contribute?

Insulin resistance in prepubertal obese children correlates with sex-dependent early onset metabolomic alterations.

LZTR1: Genotype Expansion in Noonan Syndrome

Metabolomics allows the discrimination of the pathophysiological relevance of hyperinsulinism in obese prepubertal children.

Metabolomics changes in patients with PAPP-A2 deficiency in response to rhIGF1 treatment

Molecular and clinical analysis of ALPL in a cohort of patients with suspicion of Hypophosphatasia.

Mutations in pregnancy-associated plasma protein A2 cause short stature due to low IGF-I availability

Natural History of Perinatal and Infantile Hypophosphatasia: A Retrospective Study

Proteomic analysis allows for early detection of potential markers of metabolic impairment in very young obese children

Recommendations for Diagnosis and Treatment of Pseudohypoparathyroidism and Related Disorders: An Updated Practical Tool for Physicians and Patients

Response to growth hormone in patients with mutations

SUN-529 Burden of Illness in Adults with Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry.

Sex, puberty, and ethnicity have a strong influence on growth and metabolic comorbidities in children and adolescents with obesity: Report on 1300 patients (the Madrid Cohort)

Skeletal dysplasias: New medical treatments

The impact of intrauterine and extrauterine weight gain in premature infants on later body composition.

Treatment With Recombinant Human Insulin-Like Growth Factor-1 Improves Growth in Patients With PAPP-A2 Deficiency

Underdiagnosed Beckwith-Wiedemann syndrome among early onset obese children

Wind of change in pseudohypoparathyroidism and related disorders: New classification and first international management consensus

[Implication in Paediatrics of the First International Consensus Statement for the Diagnosis and management of pseudohypoparathyroidism and related disorders]

[Influence of neonatal anthropometry on the comorbidities of the obese patient]

[Parental obesity is associated with the severity of childhood obesity and its comorbidities]

[The importance of socioeconomic factors in obesity studies. Authors reply]

[X-linked hypophosphatemic rickets due to mutations in PHEX: Clinical and evolutionary variability]