Gaucher Disease
What's New
Last Posted: Apr 14, 2022
- The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?
Weinreb Neal J et al. Molecular genetics and metabolism 2022 - Newborn screening for Gaucher disease in Japan.
Sawada Takaaki et al. Molecular genetics and metabolism reports 2022 31100850 - A cross-sectional survey of genetic counselors providing carrier screening regarding GBA variants and Parkinson disease susceptibility.
Jones Tara A et al. Journal of assisted reproduction and genetics 2022 - Lysosomal Storage Disorders: Clinical, Biochemical and molecular profile from Rare disease centre, India.
Goyal Manisha et al. Annals of Indian Academy of Neurology 2022 24(5) 686-692 - Screening, patient identification, evaluation, and treatment in patients with Gaucher disease: Results from a Delphi consensus.
Kishnani Priya S et al. Molecular genetics and metabolism 2022 - Investigation of a dysmorphic facial phenotype in patients with Gaucher disease types 2 and 3.
Daykin Emily et al. Molecular genetics and metabolism 2021 - Counseling for personal health implications identified during reproductive genetic carrier screening.
Gbur Samantha et al. Prenatal diagnosis 2021 - The Future of Newborn Screening for Lysosomal Disorders.
Wasserstein Melissa P et al. Neuroscience letters 2021 136080 - Screening for Gaucher Disease Using Dried Blood Spot Tests: A Japanese Multicenter, Cross-sectional Survey.
Miyamoto Toshihiro et al. Internal medicine (Tokyo, Japan) 2021 60(5) 699-707 - A charitable access program for patients with lysosomal storage disorders in underserved communities worldwide.
Mehta Atul et al. Orphanet journal of rare diseases 2021 Jan 16(1) 8
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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
- NIH Information (5)
- COVID-19 (10)
- Human Genome Epidemiologic Studies (88)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (27)
- Genomic Tests Evidence Synthesis (4)
- Genomic Tests Guidelines (2)
- Non-Genomics Precision Health (1)
- State Public Health Genomics Programs (1)
- Reviews/Commentaries (8)
- Tools/Methods (1)
- Ethical/Legal and Social Issues (ELSI) (1)
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 the CDC Office of Public Health Genomics 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:Jul 25, 2022
- Page last updated:Dec 01, 2022
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