Spinal Muscular Atrophy Type 2
What's New
Last Posted: Apr 21, 2024
- Metabolomics of cerebrospinal fluid reveals candidate diagnostic biomarkers to distinguish between spinal muscular atrophy type II and type III.
Mengnan Lu, et al. CNS neuroscience & therapeutics 2024 0 (4) e14718 - Spinal muscular atrophy type 1 with congenital bone fractures
From NCATS Genetic and Rare Diseases Information Center - Spinal muscular atrophy type 2
From NCATS Genetic and Rare Diseases Information Center - Spinal muscular atrophy type 3
From NCATS Genetic and Rare Diseases Information Center - Spinal muscular atrophy type 4
From NCATS Genetic and Rare Diseases Information Center - Preliminary results in a study regarding the relationship between perlecan gene polymorphism and spinal muscular atrophy type I disease.
Stavarachi Monica, et al. Genetic testing and molecular biomarkers 2009 12 (6) 821-4
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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
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