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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.
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- Hormone Research in Paediatrics, 2024, v. 97, n. 3, p. 233, doi. 10.1159/000531865
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- Article
Management of RANKL-mediated Disorders With Denosumab in Children and Adolescents: A Global Expert Guidance Document.
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- Journal of Clinical Endocrinology & Metabolism, 2024, v. 109, n. 5, p. 1371, doi. 10.1210/clinem/dgad657
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- Publication type:
- Article
Effectiveness of asfotase alfa for treatment of adults with hypophosphatasia: results from a global registry.
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- Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03048-6
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- Article
Growth reference charts for children with hypochondroplasia.
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- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 2, p. 243, doi. 10.1002/ajmg.a.63431
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- Article
Burosumab vs conventional therapy in children with X-linked hypophosphatemia: results of the open-label, phase 3 extension period.
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- JBMR Plus, 2024, v. 8, n. 1, p. 1, doi. 10.1093/jbmrpl/ziad001
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- Article
Burosumab vs Phosphate/Active Vitamin D in Pediatric X-Linked Hypophosphatemia: A Subgroup Analysis by Dose Level.
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- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 11, p. 2990, doi. 10.1210/clinem/dgad230
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- Article
The Growth Hormone Deficiency (GHD) Reversal Trial: effect on final height of discontinuation versus continuation of growth hormone treatment in pubertal children with isolated GHD—a non-inferiority Randomised Controlled Trial (RCT).
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- Trials, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s13063-023-07562-z
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- Article
Investigating the role of ASCC1 in the causation of bone fragility.
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- Frontiers in Endocrinology, 2023, p. 1, doi. 10.3389/fendo.2023.1137573
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- Article
Real-world evidence in achondroplasia: considerations for a standardized data set.
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- Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02755-w
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- Article
Bi‐allelic mutation in SEC16B alters collagen trafficking and increases ER stress.
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- EMBO Molecular Medicine, 2023, v. 15, n. 4, p. 1, doi. 10.15252/emmm.202216834
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- Article
Early childhood allergy prevention behaviors: Trends in Germany from 2015 to 2020.
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- Pediatric Allergy & Immunology, 2023, v. 34, n. 4, p. 1, doi. 10.1111/pai.13948
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- Article
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.
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- Frontiers in Endocrinology, 2023, v. 14, p. 1, doi. 10.3389/fendo.2023.1138599
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- Article
Osteoporosis in children and adolescents: how to treat and monitor?
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- 2023
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- Publication type:
- journal article
High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench.
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- Journal of Bone & Mineral Research, 2023, v. 38, n. 2, p. 229, doi. 10.1002/jbmr.4715
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- Article
Breast satisfaction in adult women with Turner syndrome—An international survey employing the BREAST‐Q questionnaire.
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- Clinical Endocrinology, 2023, v. 98, n. 1, p. 82, doi. 10.1111/cen.14755
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- Article
Establishing the Prevalence of Osteomalacia in Arab Adolescents Using Biochemical Markers of Bone Health.
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- Nutrients, 2022, v. 14, n. 24, p. 5354, doi. 10.3390/nu14245354
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- Article
Prevalences of cardiometabolic risk and lifestyle factors in young parents: evidence from a German birth cohort study.
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- BMC Cardiovascular Disorders, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12872-022-02915-z
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- Article
Influence of maternal socioeconomic deprivation and living environment on newborn bloodspot 25-hydroxyvitamin D levels.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.978580
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- Article
To Supplement or Not to Supplement With the Sunshine Vitamin in Sunny Countries?
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- Indian Pediatrics, 2022, v. 59, n. 11, p. 835, doi. 10.1007/s13312-022-2638-7
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- Article
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
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- Journal of Bone & Mineral Research, 2022, v. 37, n. 9, p. 1642, doi. 10.1002/jbmr.4639
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- Article
The burden of vitamin D deficiency in household members of children presenting with symptomatic vitamin D deficiency.
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- Frontiers in Endocrinology, 2022, v. 13, p. 1, doi. 10.3389/fendo.2022.958422
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- Article
The landscape of retesting in childhood-onset idiopathic growth hormone deficiency and its reversibility: a systematic review and meta-analysis.
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- European Journal of Endocrinology, 2022, v. 187, n. 2, p. 265, doi. 10.1530/EJE-21-1179
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- Article
Effect of Burosumab Compared With Conventional Therapy on Younger vs Older Children With X-linked Hypophosphatemia.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 8, p. e3241, doi. 10.1210/clinem/dgac296
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- Publication type:
- Article
Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry.
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- 2022
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- Publication type:
- journal article
Clinical profiles of treated and untreated adults with hypophosphatasia in the Global HPP Registry.
- Published in:
- Orphanet Journal of Rare Diseases, 2022, v. 17, n. 1, p. 1, doi. 10.1186/s13023-022-02393-8
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- Publication type:
- Article
Osteoporosis in children and adolescents: when to suspect and how to diagnose it.
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- European Journal of Pediatrics, 2022, v. 181, n. 7, p. 2549, doi. 10.1007/s00431-022-04455-2
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- Publication type:
- Article
Utilisation of supplementary prenatal screening and diagnostics in Germany: cross-sectional study using data from the KUNO Kids Health Study.
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- 2022
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- Publication type:
- journal article
Sustained Efficacy and Safety of Burosumab, a Monoclonal Antibody to FGF23, in Children With X-Linked Hypophosphatemia.
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- Journal of Clinical Endocrinology & Metabolism, 2022, v. 107, n. 3, p. 813, doi. 10.1210/clinem/dgab729
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- Publication type:
- Article
Bone Phenotyping Approaches in Human, Mice and Zebrafish – Expert Overview of the EU Cost Action GEMSTONE ("GEnomics of MusculoSkeletal traits TranslatiOnal NEtwork").
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- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.720728
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- Article
Case Report: Severe Neonatal Course in Paternally Derived Familial Hypocalciuric Hypercalcemia.
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- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.700612
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- Article
The effect of vitamin D supplementation and nutritional intake on skeletal maturity and bone health in socio-economically deprived children.
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- European Journal of Nutrition, 2021, v. 60, n. 6, p. 3343, doi. 10.1007/s00394-021-02511-5
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- Article
A Roadmap to Gene Discoveries and Novel Therapies in Monogenic Low and High Bone Mass Disorders.
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- Frontiers in Endocrinology, 2021, v. 12, p. 1, doi. 10.3389/fendo.2021.709711
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- Article
A Three-Year Longitudinal Study Comparing Bone Mass, Density, and Geometry Measured by DXA, pQCT, and Bone Turnover Markers in Children with PKU Taking L-Amino Acid or Glycomacropeptide Protein Substitutes.
- Published in:
- Nutrients, 2021, v. 13, n. 6, p. 2075, doi. 10.3390/nu13062075
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- Article
Patient-Reported Outcomes from a Randomized, Active-Controlled, Open-Label, Phase 3 Trial of Burosumab Versus Conventional Therapy in Children with X-Linked Hypophosphatemia.
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- 2021
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- Publication type:
- journal article
Clinical characteristics and treatment requirements of children with autosomal recessive pseudohypoaldosteronism.
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- European Journal of Endocrinology, 2021, v. 184, n. 5, p. K15, doi. 10.1530/EJE-20-0152
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- Article
Activating mutations in BRAF disrupt the hypothalamo-pituitary axis leading to hypopituitarism in mice and humans.
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- Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-21712-4
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- Publication type:
- Article
Growth and Body Composition in PKU Children—A Three-Year Prospective Study Comparing the Effects of L-Amino Acid to Glycomacropeptide Protein Substitutes.
- Published in:
- Nutrients, 2021, v. 13, n. 4, p. 1323, doi. 10.3390/nu13041323
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- Article
Mechanisms of Bone Fragility: From Osteogenesis Imperfecta to Secondary Osteoporosis.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 2, p. 625, doi. 10.3390/ijms22020625
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- Article
Burden of Illness in Adults With Hypophosphatasia: Data From the Global Hypophosphatasia Patient Registry.
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- Journal of Bone & Mineral Research, 2020, v. 35, n. 11, p. 2171, doi. 10.1002/jbmr.4130
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- Article
Nutritional rickets & osteomalacia: A practical approach to management.
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- Indian Journal of Medical Research, 2020, v. 152, n. 4, p. 356, doi. 10.4103/ijmr.IJMR_1961_19
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- Article
Vitamin D supplementation in pregnancy, lactation and infancy: why is it fundamental?
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- British Journal of Midwifery, 2020, v. 28, n. 5, p. 315, doi. 10.12968/bjom.2020.28.5.315
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- Article
Micronutrient deficiencies and health-related quality of life: the case of children with vitamin D deficiency.
- Published in:
- 2020
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- Publication type:
- journal article
New Developments in the Treatment of X-Linked Hypophosphataemia: Implications for Clinical Management.
- Published in:
- Pediatric Drugs, 2020, v. 22, n. 2, p. 113, doi. 10.1007/s40272-020-00381-8
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- Publication type:
- Article
Oral Iron for Prevention and Treatment of Rickets and Osteomalacia in Autosomal Dominant Hypophosphatemia.
- Published in:
- Journal of Bone & Mineral Research, 2020, v. 35, n. 2, p. 226, doi. 10.1002/jbmr.3941
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- Article
A Contemporary View of the Definition and Diagnosis of Osteoporosis in Children and Adolescents.
- Published in:
- 2019
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- Publication type:
- journal article
Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2019, v. 104, n. 7, p. 2735, doi. 10.1210/jc.2018-02335
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- Publication type:
- Article
Causes, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal children.
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- European Journal of Endocrinology, 2019, v. 180, n. 3, p. 213, doi. 10.1530/EJE-18-0854
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- Publication type:
- Article
Efficacy and Safety of Asfotase Alfa in Infants and Young Children With Hypophosphatasia: A Phase 2 Open-Label Study.
- Published in:
- 2019
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- Publication type:
- journal article
Diagnostic delay is common among patients with hypophosphatasia: initial findings from a longitudinal, prospective, global registry.
- Published in:
- 2019
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- Publication type:
- journal article
Cardiac, bone and growth plate manifestations in hypocalcemic infants: revealing the hidden body of the vitamin D deficiency iceberg.
- Published in:
- 2018
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- Publication type:
- journal article