Menkes Disease
What's New
Last Posted: Mar 15, 2023
- ATP7A-related copper transport disorders: A systematic review and definition of the clinical subtypes.
De Feyter S, et al. Journal of inherited metabolic disease 2023 0 (2) 163-173 - Predictable and precise template-free CRISPR editing of pathogenic variants.
Shen Max W, et al. Nature 2018 0 (7733) 646-651 - Osseous Metaplasia in a Bladder Diverticulum in a Patient with Mosaic Menkes Disease.
Canalichio Katie L, et al. Urology 2019 0 238-240 - ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis.
Fujisawa Chie, et al. Pediatrics international : official journal of the Japan Pediatric Society 2019 0 (4) 345-350 - A Drosophila model of Menkes disease reveals a role for DmATP7 in copper absorption and neurodevelopment.
Bahadorani Sepehr, et al. Disease models & mechanisms 2009 0 (1-2) 84-91 - Copper transporting P-type ATPases and human disease.
Cox Diane W, et al. Journal of bioenergetics and biomembranes 2003 0 (5) 333-8 - Targeted next generation sequencing for newborn screening of Menkes disease.
Parad Richard B et al. Molecular genetics and metabolism reports 2020 Sep 24100625 - With time ticking away, clinicians scramble to save newborn twins from the disease that took their brother
R Robbins, Stat News, February 5, 2019 - Diagnostic yield of genetic testing in epileptic encephalopathy in childhood.
Mercimek-Mahmutoglu Saadet et al. Epilepsia 2015 Mar 25. - Menkes disease
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
- Content source: