Gangliosidosis
What's New
Last Posted: Jan 14, 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 - [Increased use of genetic health care in Iceland 2012-2017].
Hognason Hakon Bjorn et al. Laeknabladid 2021 108(1) 11-16 - Assessing Lysosomal Disorders in the NGS Era: Identification of Novel Rare Variants.
Encarnação Marisa et al. International journal of molecular sciences 2020 Sep 21(17) - 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 - How do you toast a gene therapy trial? With tea.
T Carey, NHGRI, July 23, 2019 - Rapid Targeted Genomics in Critically Ill Newborns.
van Diemen Cleo C et al. Pediatrics 2017 Oct 140(4) - Gangliosidosis
From NCATS Genetic and Rare Diseases Information Center - GM1 gangliosidosis
From NCATS Genetic and Rare Diseases Information Center - GM1 gangliosidosis type 1
From NCATS Genetic and Rare Diseases Information Center - GM1 gangliosidosis type 2
From NCATS Genetic and Rare Diseases Information Center - GM1 gangliosidosis type 3
From NCATS Genetic and Rare Diseases Information Center - GM2 gangliosidosis, 0 variant
From NCATS Genetic and Rare Diseases Information Center - GM2-gangliosidosis, B, B1, AB variant
From NCATS Genetic and Rare Diseases Information Center
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:Apr 21, 2024
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