Results 41 to 50 of about 9,332,063 (205)
Novel ATP7A gene mutation in a patient with Menkes disease. [PDF]
Appl Clin Genet, 2018 Background Menkes disease is a congenital neurodegenerative disorder caused by ATP7A gene mutations. Clinical features include epilepsy, growth delay, reduced muscle strength, skin laxity, abnormal hair, and urologic abnormalities.
Caicedo-Herrera G +5 more
europepmc +2 more sources
Neuroimaging Changes in Menkes Disease, Part 1. [PDF]
AJNR Am J Neuroradiol, 2017 SUMMARY: 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.
Manara R +16 more
europepmc +2 more sources
Tubular Dysfunction and Ruptured Ureter in a Child with Menkes Syndrome
Case Reports in Pediatrics, 2021 Children with Menkes disease may develop various urological and renal problems that evolve as the disease progresses. A 4-year-old boy with Menkes disease had multiple bladder diverticula and a history of recurrent urinary tract infection caused by urea ...
Wun Fung Hui +4 more
doaj +1 more source
Neuroimaging Changes in Menkes Disease, Part 2. [PDF]
AJNR Am J Neuroradiol, 2017 SUMMARY: This is the second part of a retrospective and review MR imaging study aiming to define the frequency rate, timing, imaging features, and evolution of gray matter changes in Menkes disease, a rare multisystem X-linked disorder of copper ...
Manara R +16 more
europepmc +2 more sources
The copper-transporting capacity of ATP7A mutants associated with Menkes disease is ameliorated by COMMD1 as a result of improved protein expression [PDF]
Cellular and Molecular Life Sciences, 2011 Willianne I M Vonk +2 more
exaly +2 more sources
Metabolism of copper and possibilities for its regulation [PDF]
Proceedings of the Estonian Academy of Sciences, 2023 Copper is an indispensable biometal participating as a redox catalyst in many important biochemical processes. However, if uncontrolled, copper ions induce the formation of reactive oxygen species and become toxic.
Peep Palumaa
doaj +1 more source
Menkes disease: case report of an uncommon presentation with white matter lesions [PDF]
Arquivos de Neuro-Psiquiatria, 2001 Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities ...
Lúcia Maria Guimarães Santos +6 more
doaj +1 more source
Pediatric Neurology Briefs, 1994 Fibroblast cultures from 12 unrelated patients with classical Menkes disease, an X-linked disorder of copper metabolism, were analyzed for mutations in the MNK gene at the Howard Hughes Medical Institute, University of California, San Francisco.
J Gordon Millichap
doaj +1 more source
Menkes Disease: Copper-Histidine Therapy
Pediatric Neurology Briefs, 1993 The response to subcutaneous copper-histidine treatment (50 - 150 mcg Cu/kgm/daily) in seven children with Menkes disease (Kinky-Hair disease) is reported from the Hospital for Sick Children and University of Toronto, Canada.
J Gordon Millichap
doaj +1 more source