Hypophosphatasia
What's New
Last Posted: Apr 21, 2023
- Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.
Wei Zhou et al. J Bone Miner Res - High frequency of heterozygous rare variants of the SLC34A1 and SLC9A3R1 genes in patients with atypical femur fracture.
Francesca Marini et al. European journal of endocrinology 2023 188(1) - Not just a carrier: Clinical presentation and management of patients with heterozygous disease-causing alkaline phosphatase (ALPL) variants identified through expanded carrier screening.
Beck Natalie M et al. Molecular genetics & genomic medicine 2022 e2056 - Clinical trials in skeletal dysplasia: a paradigm for treating rare diseases.
Sabir Ataf et al. British medical bulletin 2021 - Phenotypic Profiling in Subjects Heterozygous for 1 of 2 Rare Variants in the Hypophosphatasia Gene ( ALPL ).
Tilden Daniel R et al. Journal of the Endocrine Society 2020 Aug 4(8) bvaa084 - Clinical Practice Guidelines for Hypophosphatasia.
Michigami Toshimi et al. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2020 29(1) 9-24 - The $6 Million Drug Claim- New treatments for rare diseases are changing the lives of patients, but the price can reach millions of dollars for a single person.
K Thomas et al, NY Times, August 25, 2019 - Is Genetic Medicine Making the World Less Fair?
L Hercher, the Nation, August 23, 2019 - Hypophosphatasia: the patient's and patient's family's point of view.
Ursprung S et al. Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2017 May 24(5S2) 5S96-5S101 - Genetic Hypercalcemia.
Cormier Catherine et al. Joint, bone, spine : revue du rhumatisme 2018 Oct
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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:Apr 21, 2024
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