Nephropathic Cystinosis
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Last Posted: Mar 13, 2023
- Genetic Landscape of Nephropathic Cystinosis in Russian Children.
Savostyanov K V, et al. Frontiers in genetics 2022 0 863157 - The Clinical and Mutational Spectrum of Turkish Patients with Cystinosis.
Topaloglu Rezan, et al. Clinical journal of the American Society of Nephrology : CJASN 2017 0 (10) 1634-1641 - A 57 kB Genomic Deletion Causing CTNS Loss of Function Contributes to the CTNS Mutational Spectrum in the Middle East.
Najafi Maryam, et al. Frontiers in pediatrics 2019 0 89 - Hierarchical processing of visual stimuli in nephropathic cystinosis.
Sathappan Aakash, et al. Journal of inherited metabolic disease 2019 0 (3) 545-552 - Newborn Screening: Review of its Impact for Cystinosis.
Hohenfellner Katharina et al. Cells 2022 11(7) - 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 - CTNS molecular genetics profile in a Persian nephropathic cystinosis population.
Ghazi Farideh, et al. Nefrologia : publicacion oficial de la Sociedad Espanola Nefrologia 2017 2 - Nephropathic cystinosis
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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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