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

Orphanet journal of rare diseases, 2019-04, Vol.14 (1), p.85-85, Article 85

2019

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Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry

Journal of bone and mineral research, 2020-11, Vol.35 (11), p.2171-2178

2020

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Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry

Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.1-277, Article 277

2022

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Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry

Orphanet journal of rare diseases, 2024-03, Vol.19 (1), p.109-109, Article 109

2024

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New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry

American journal of medical genetics. Part A, 2024-06, p.e63781-e63781

2024

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LZTR1: Genotype Expansion in Noonan Syndrome

Hormone research in paediatrics, 2020-03, Vol.92 (4), p.269-275

2020

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Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry

Frontiers in endocrinology (Lausanne), 2023-03, Vol.14, p.1138599-1138599

2023

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Growth and disease burden in children with hypophosphatasia

Endocrine Connections, 2023-05, Vol.12 (5), p.1-12

2023

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The N221D variant in PCSK1 is highly prevalent in childhood obesity and can influence the metabolic profile

Journal of Pediatric Endocrinology and Metabolism, 2023-12, Vol.36 (12), p.1140-1145

2023

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Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency

Endocrinology, diabetes & metabolism case reports, 2021-09, Vol.2021 (1), p.1-6

2021

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The Global ALPL gene variant classification project: Dedicated to deciphering variants

Bone (New York, N.Y.), 2024-01, Vol.178, p.116947-116947, Article 116947

2024

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Clinical Profiles of Children with Hypophosphatasia Prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry

Hormone research in paediatrics, 2023-07, Vol.97 (3), p.1-10

2023

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Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism

Journal of Pediatric Endocrinology and Metabolism, 2020-11, Vol.33 (11), p.1501-1505

2020

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Adult height and long-term outcomes after rhIGF-1 therapy in two patients with PAPP-A2 deficiency

Growth hormone & IGF research, 2021-10, Vol.60-61, p.101419-101419, Article 101419

2021

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

Anales de Pediatría, 2019-04, Vol.90 (4), p.224-231

2019

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

Anales de pediatria, 2019-02, Vol.90 (2), p.125.e1-125.e12

2019

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Influence of neonatal anthropometry on the comorbidities of the obese patient

Anales de Pediatría, 2019-06, Vol.90 (6), p.362-369

2019

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Regional fat distribution in adolescents with anorexia nervosa: effect of duration of malnutrition and weight recovery

European journal of endocrinology, 2007-10, Vol.157 (4), p.473-479

2007

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The importance of socioeconomic factors in obesity studies. Authors reply

Anales de Pediatría, 2019-12, Vol.91 (6), p.424-424

2019

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

Journal of Pediatric Endocrinology and Metabolism, 2018-07, Vol.31 (7), p.743-750

2018

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Implicaciones en pediatría del primer consenso internacional para el diagnóstico y asistencia a pacientes con pseudohipoparatiroidismo y enfermedades relacionadas

Anales de pediatría (Barcelona, Spain : 2003), 2019-02, Vol.90 (2), p.125.e1-125.e12

2019

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Importancia de los factores socioeconómicos en estudios de obesidad. Repuesta de los autores

Anales de pediatría (Barcelona, Spain : 2003), 2019-12, Vol.91 (6), p.424-424

2019

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Adipokines in Childhood Obesity

Vitamins and Hormones, 2013, Vol.91, p.107-142

2013

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Influencia de la antropometría neonatal sobre las comorbilidades del paciente obeso

Anales de pediatría (Barcelona, Spain : 2003), 2019-06, Vol.90 (6), p.362-369

2019

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La obesidad parental se asocia con la gravedad de la obesidad infantil y de sus comorbilidades

Anales de pediatría (Barcelona, Spain : 2003), 2019-04, Vol.90 (4), p.224-231

2019

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

Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry

Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry

Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry

New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry

LZTR1: Genotype Expansion in Noonan Syndrome

Impact of muscular symptoms and/or pain on disease characteristics, disability, and quality of life in adult patients with hypophosphatasia: A cross-sectional analysis from the Global HPP Registry

Growth and disease burden in children with hypophosphatasia

The N221D variant in PCSK1 is highly prevalent in childhood obesity and can influence the metabolic profile

Missplicing due to a synonymous, T96= exonic substitution in the T-box transcription factor TBX19 resulting in isolated ACTH deficiency

The Global ALPL gene variant classification project: Dedicated to deciphering variants

Clinical Profiles of Children with Hypophosphatasia Prior to Treatment with Enzyme Replacement Therapy: An Observational Analysis from the Global HPP Registry

Aldosterone deficiency with a hormone profile mimicking pseudohypoaldosteronism

Adult height and long-term outcomes after rhIGF-1 therapy in two patients with PAPP-A2 deficiency

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

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

Regional fat distribution in adolescents with anorexia nervosa: effect of duration of malnutrition and weight recovery

The importance of socioeconomic factors in obesity studies. Authors reply

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

Implicaciones en pediatría del primer consenso internacional para el diagnóstico y asistencia a pacientes con pseudohipoparatiroidismo y enfermedades relacionadas

Importancia de los factores socioeconómicos en estudios de obesidad. Repuesta de los autores

Adipokines in Childhood Obesity

Influencia de la antropometría neonatal sobre las comorbilidades del paciente obeso

La obesidad parental se asocia con la gravedad de la obesidad infantil y de sus comorbilidades

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