Hereditary Amyloidosis
What's New
Last Posted: Dec 24, 2023
- An ultra performance liquid chromatography method for transthyretin variants screening and heart failure assisting diagnosis.
Shuang Wang, et al. Clinica chimica acta; international journal of clinical chemistry 2023 0 117709 - Real-world utilization of guideline-directed genetic testing in inherited cardiovascular diseases.
Mauro Longoni et al. Front Cardiovasc Med 2023 101272433 - Structural determinants in ApoA-I amyloidogenic variants explain improved cholesterol metabolism despite low HDL levels.
Del Giudice Rita, et al. Biochimica et biophysica acta. Molecular basis of disease 2017 0 (12) 3038-3048 - Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting.
Lahuerta Carmen, et al. International journal of cardiology 2019 0 220-225 - Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data.
Lahuerta Pueyo Carmen, et al. European journal of human genetics : EJHG 2019 0 (5) 783-791 - A case of cardiac amyloidosis in an elderly Japanese patient with amyloidogenic transthyretin Val122Ile variant.
Ono Ryohei, et al. Journal of cardiology cases 2020 0 (5) 221-225 - Analyses Mutations in GSN, CST3, TTR, and ITM2B Genes in Chinese Patients With Alzheimer's Disease.
Jiang Yaling, et al. Frontiers in aging neuroscience 2020 0 581524 - Low Prevalence of Clinically Apparent Cardiac Amyloidosis Among Carriers of Transthyretin V122I Variant in a Large Electronic Medical Record.
Agbor-Etang Brian B, et al. The American journal of medicine 2020 0 (2) e98-e100 - The sensitivity of DPD scintigraphy to detect transthyretin cardiac amyloidosis in V30M mutation depends on the phenotypic expression of the disease.
Azevedo Coutinho Maria C, et al. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis 2020 0 (3) 174-183 - Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy.
Dugo Ketty et al. Biomedicines 2022 10(10)
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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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