X-Linked Hypophosphatemia Management in Children: An International Working Group Clinical Practice Guideline This important resource provides healthcare practitioners with expert recommendations that will help guide the…
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Publication of impact on health-related quality of life from 3 year data with vosoritide. These data suggest that after 3 years of treatment, vosoritide demonstrates a…
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Since the approval of vosoritide in 2021, a need was created for a treatment guideline for support clinicians. An international collaborative of leading experts and patient…
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Despite the recognized expertise of pediatric endocrinologists, children with skeletal dysplasias have not been consistently managed by these physicians. Growth-altering treatments have broadened the role of…
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What is DiGeorge Syndrome? DiGeorge syndrome is a genetic condition where a small part of chromosome 22 is missing. A patient with DiGeorge syndrome is missing…
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Turner Syndrome: A Guide for Families What is Turner Syndrome? Turner syndrome is a genetic condition that affects 1 in every 2,000 to 2,500 live-born girls.…
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Klinefelter Syndrome: A Guide for Families What is Klinefelter Syndrome? It is a condition in boys caused by the presence of an extra X chromosome. Boys…
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Genetic Testing: A Guide for Families What is Genetic Testing? Genetic testing looks for changes in the structure of an individual’s genes. Genes are the DNA…
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