Gaucher Disease
What's New
Last Posted: Jan 14, 2021
- 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 - A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders.
Sanders Karen A et al. International journal of neonatal screening 2020 Jun 6(2) - Early detection of lysosomal diseases by screening of cases of idiopathic splenomegaly and/or thrombocytopenia with a next-generation sequencing gene panel.
Muñoz Gloria et al. JIMD reports 2020 Jan 51(1) 53-61 - Newborn screening for Morquio disease and other lysosomal storage diseases: results from the 8-plex assay for 70,000 newborns.
Chien Yin-Hsiu et al. Orphanet journal of rare diseases 2020 Feb 15(1) 38 - Budget Impact Analysis of Eliglustat for the Treatment of Gaucher Disease Type 1 in the United States.
Nalysnyk Luba et al. Journal of managed care & specialty pharmacy 2018 Oct 24(10) 1002-1008 - Recent advances in the diagnosis and management of Gaucher disease.
Gary Sam E et al. Expert review of endocrinology & metabolism 2018 Mar 13(2) 107-118 - Children with type 1 Gaucher disease: Changing profiles in the 21st century.
Elstein Deborah et al. Blood cells, molecules & diseases 2018 Feb 6893-96 - Fetal gene therapy for neurodegenerative disease of infants.
Massaro Giulia et al. Nature medicine 2018 Jul - A pilot screening of high-risk Gaucher disease children using dried blood spot methods in Shandong province of China.
Lei Ke et al. Orphanet journal of rare diseases 2018 Apr 13(1) 48 - Diagnosis and Management of Gaucher Disease in India - Consensus Guidelines of the Gaucher Disease Task Force of the Society for Indian Academy of Medical Genetics and the Indian Academy of Pediatrics.
et al. Indian pediatrics 2018 Feb 55(2) 143-153
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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 (4)
- Human Genome Epidemiologic Studies (82)
- GWAS Studies (1)
- Human Genomics Translation/Implementation Studies (23)
- Genomic Tests Evidence Synthesis (4)
- Genomic Tests Guidelines (2)
- State Public Health Genomics Programs (1)
- Reviews/Commentaries (6)
- 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:Oct 1, 2020
- Page last updated:Jan 26, 2021
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