Rickets
What's New
Last Posted: Jan 26, 2023
- A Study on the CLCN5 Gene in Iranian Patients: A Report of Novel and Recurrent Mutations.
Mollataheri Ali et al. Nephron 2023 1-8 - Hereditary Rickets: A Quick Guide for the Pediatrician.
AlSubaihin Abdulmajeed et al. Current pediatric reviews 2022 - Benefits of Newborn Screening for Vitamin D-Dependant Rickets Type 1A in a Founder Population.
Fortin Carol-Ann et al. Frontiers in endocrinology 2022 13887371 - Clinical practice guidelines for paediatric X-linked hypophosphataemia in the era of burosumab.
Sandy Jessica L et al. Journal of paediatrics and child health 2022 - Molecular Diagnoses of X-linked and Other Genetic Hypophosphatemias: Results from a Sponsored Genetic Testing Program.
Rush Eric T et al. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 2021 - Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Sabir Ataf et al. British medical bulletin 2021 - Adaptation of an NLP System to a New Healthcare Environment to Identify Social Determinants of Health.
Reeves Ruth et al. Journal of biomedical informatics 2021 103851 - Consensus Recommendations for the Diagnosis and Management of X-Linked Hypophosphatemia in Belgium.
Laurent Michaël R et al. Frontiers in endocrinology 2021 12641543 - The international X-linked hypophosphataemia (XLH) registry (NCT03193476): rationale for and description of an international, observational study.
Padidela Raja et al. Orphanet journal of rare diseases 2020 Jun 15(1) 172 - Clinical practice recommendations for the diagnosis and management of X-linked hypophosphataemia.
Haffner Dieter et al. Nature reviews. Nephrology 2019 May
More
About Rare Diseases PHGKB
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Content Summary
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Eclampsia
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Glomerulonephritis
- Graves Disease
- Hemophilia
- Huntington Disease
- Microcephaly
- Myasthenia Gravis
- Phenylketonuria
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by Public Health Genomics Branch to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.
- Page last reviewed:Feb 1, 2024
- Page last updated:Mar 27, 2024
- Content source: