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Menkes disease

Menkes kinky-hair syndrome
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Review Articles from PubMed

Review articles summarize what is currently known about a disease. They discuss research previously published by others. The terms "Menkes disease" returned 12 free, full-text review articles. First few results:
Osseous Metaplasia in a Bladder Diverticulum in a Patient with Mosaic Menkes Disease.
Last Updated: Feb 27, 2020

Menkes disease, or Kinky Hair Syndrome, is a rare disorder of copper metabolism that causes fatal neurodegenerative disease in infancy. This X-linked disorder results from mutations in the ATP7A gene. Along with neurological decline, characteristic coarse appearance of the hair is ...

Neuroimaging findings in Menkes disease: a rare neurodegenerative disorder.
Last Updated: May 22, 2020

Menkes disease is a rare neurodegenerative metabolic disease with a reported incidence of 1 per 300‚ÄČ000 live births. It occurs due to mutations in ATP7A gene located on X-chromosome leading to deficiency of several copper-containing enzymes. The patient presents with history of ...

Neuroimaging Changes in Menkes Disease, Part 1.
Last Updated: Dec 02, 2018

Menkes disease is a rare multisystem X-linked disorder of copper metabolism. Despite an early, severe, and progressive neurologic involvement, our knowledge of brain involvement remains unsatisfactory. The first part of this retrospective and review MR imaging study aims to define ...

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Editorials from PubMed

Editorial articles describe the outcome of a single study. They are the published results of original research. The terms "Menkes disease" returned 0 free, full-text editorial articles. First 0 results:
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Research Articles from PubMed

Research articles describe the outcome of a single study. They are the published results of original research. The terms "Menkes disease" returned 90 free, full-text research articles. First few results:
A severe case of Menkes disease with repeated bone fracture during the neonatal period, followed by multiple arterial occlusion.
Last Updated: Apr 08, 2020

Menkes disease (MD) is a lethal infantile neurodegenerative disorder with X-linked inheritance, characterized by progressive neurodegenerative symptoms caused by pathogenic variants in the ATP7A. Early diagnosis and treatment are important, although the diagnosis is difficult prior ...

Menkes disease complicated by concurrent Koolen-de Vries syndrome (17q21.31 deletion).
Last Updated: Jun 29, 2020

Koolen-de Vries (KdV) syndrome is caused by a 17q21.31 deletion leading to clinical symptoms of hypotonia and developmental delay and can present with abnormal hair texture. Menkes disease is an X-linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads ...

Long surviving classical Menkes disease treated with weekly intravenous copper therapy.
Last Updated: Nov 21, 2019

Menkes diseases (MD) is an X-linked recessive neurodegenerative disorder of copper metabolism, characterized by progressive multisystemic involvement. Death in the early childhood is usually observed in classical patients. Although a definite cure has not been established, copper ...

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90 Free Research Articles 311 Research Articles