Last Posted: Apr 14, 2023
- The D409H variant in GBA1: Challenges in predicting the Gaucher phenotype in the newborn screening era.
Adenrele M Gleason et al. Am J Med Genet A 2023
- Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1.
Dardis A et al. Orphanet journal of rare diseases 2022 17(1) 442
- Targeted Screening for Gaucher Disease in High Suspicion Patients and Clinical Profile of Screen Positives in a Large Pediatric Multispecialty Hospital.
Magar Suvarna et al. Cureus 2022 14(10) e29868
- Patients' view on gene therapy development for lysosomal storage disorders: a qualitative study.
Eskes Eline C B et al. Orphanet journal of rare diseases 2022 17(1) 383
- Screening for potential undiagnosed Gaucher disease patients: Utilisation of the Gaucher earlier diagnosis consensus point-scoring system (GED-C PSS) in conjunction with electronic health record data, tissue specimens, and small nucleotide polymorphism (SNP) genotype data available in Finnish biobanks.
Pehrsson Minja et al. Molecular genetics and metabolism reports 2022 33100911
- 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
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
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- 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:Feb 1, 2023
- Page last updated:Jun 02, 2023
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