Cystinosis
What's New
Last Posted: Apr 21, 2022
- Newborn Screening: Review of its Impact for Cystinosis.
Hohenfellner Katharina et al. Cells 2022 11(7) - FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis.
Garbade Sven F et al. PloS one 2020 15(4) e0230898 - Molecular based newborn screening in Germany: Follow-up for cystinosis.
Hohenfellner Katharina et al. Molecular genetics and metabolism reports 2019 Dec 21100514 - Next generation sequencing as second-tier test in high-throughput newborn screening for nephropathic cystinosis.
Fleige Tobias et al. European journal of human genetics : EJHG 2019 Sep - Using two smartphones to look for corneal cystine crystals.
Bose Swaha et al. Digital journal of ophthalmology : DJO 2019 Jan 25(1) 12-15 - CLINGEN Actionability Report for Cystinosis-CTNS
ClinGen Actionability Working Group - Clinical utility gene card for: cystinosis.
- Cystinosis
From NCATS Genetic and Rare Diseases Information Center - Cystinosis, ocular nonnephropathic
From NCATS Genetic and Rare Diseases Information Center - Nephropathic cystinosis
From NCATS Genetic and Rare Diseases Information Center
More
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 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 07, 2023
- Content source: