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About 430 results

ALLMedicine™ Menkes Disease Center

Research & Reviews  215 results

The M1311V variant of ATP7A is associated with impaired trafficking and copper homeosta...
https://doi.org/10.1016/j.nbd.2020.105228
Neurobiology of Disease; Bakkar N, Starr A et. al.

Dec 28th, 2020 - Disruption in copper homeostasis causes a number of cognitive and motor deficits. Wilson's disease and Menkes disease are neurodevelopmental disorders resulting from mutations in the copper transporters ATP7A and ATP7B, with ATP7A mutations also c...

Effect of homeostatic iron regulator protein gene mutation on Wilson's disease clinical...
https://doi.org/10.1080/00207454.2020.1849190
The International Journal of Neuroscience; Gromadzka G, Wierzbicka DW et. al.

Nov 11th, 2020 - Wilson's disease (WD) is a hereditary disorder of copper metabolism. The metabolic pathways of copper and iron are interrelated. Our goal was to determine the frequency of the two most common mutations in the coding region of the human iron homeos...

Updated guidance on the management of COVID-19: from an American Thoracic Society/Europ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3416770
European Respiratory Review : an Official Journal of the ... Wang Y, Zhu S et. al.

Oct 6th, 2020 - The transition metal, copper (Cu), is an enzymatic cofactor required for a wide range of biochemical processes. Its essentiality is demonstrated by Menkes disease, an X-linked copper deficiency disorder characterized by defects in nervous-, cardio...

Visual Dermatology: Menkes Disease.
https://doi.org/10.1177/1203475420932516
Journal of Cutaneous Medicine and Surgery; Fernandez Ballesteros MD, Gómez-Moyano E

Jun 4th, 2020 - Visual Dermatology: Menkes Disease.|2020|Fernandez Ballesteros MD,Gómez-Moyano E,|

Occipital horn syndrome
https://rarediseases.info.nih.gov/diseases/4017/occipital-horn-syndrome

May 13th, 2020 - Occipital horn syndrome (OHS) is a genetic condition that affects the connective tissue, skeleton, and nervous system. Symptoms of OHS usually begin in early childhood. They may include wedge-shaped calcium deposits at the base of the skull (occip...

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Clinicaltrials.gov  215 results

The M1311V variant of ATP7A is associated with impaired trafficking and copper homeosta...
https://doi.org/10.1016/j.nbd.2020.105228
Neurobiology of Disease; Bakkar N, Starr A et. al.

Dec 28th, 2020 - Disruption in copper homeostasis causes a number of cognitive and motor deficits. Wilson's disease and Menkes disease are neurodevelopmental disorders resulting from mutations in the copper transporters ATP7A and ATP7B, with ATP7A mutations also c...

Effect of homeostatic iron regulator protein gene mutation on Wilson's disease clinical...
https://doi.org/10.1080/00207454.2020.1849190
The International Journal of Neuroscience; Gromadzka G, Wierzbicka DW et. al.

Nov 11th, 2020 - Wilson's disease (WD) is a hereditary disorder of copper metabolism. The metabolic pathways of copper and iron are interrelated. Our goal was to determine the frequency of the two most common mutations in the coding region of the human iron homeos...

Updated guidance on the management of COVID-19: from an American Thoracic Society/Europ...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3416770
European Respiratory Review : an Official Journal of the ... Wang Y, Zhu S et. al.

Oct 6th, 2020 - The transition metal, copper (Cu), is an enzymatic cofactor required for a wide range of biochemical processes. Its essentiality is demonstrated by Menkes disease, an X-linked copper deficiency disorder characterized by defects in nervous-, cardio...

Visual Dermatology: Menkes Disease.
https://doi.org/10.1177/1203475420932516
Journal of Cutaneous Medicine and Surgery; Fernandez Ballesteros MD, Gómez-Moyano E

Jun 4th, 2020 - Visual Dermatology: Menkes Disease.|2020|Fernandez Ballesteros MD,Gómez-Moyano E,|

Occipital horn syndrome
https://rarediseases.info.nih.gov/diseases/4017/occipital-horn-syndrome

May 13th, 2020 - Occipital horn syndrome (OHS) is a genetic condition that affects the connective tissue, skeleton, and nervous system. Symptoms of OHS usually begin in early childhood. They may include wedge-shaped calcium deposits at the base of the skull (occip...

see more →