Results 31 to 40 of about 5,184,226 (184)

Menkes disease: what a multidisciplinary approach can do

Journal of Multidisciplinary Healthcare, 2016
Rahul Ojha,1 Asuri N Prasad1–4 1Department of Pediatrics, 2Section of Pediatric Neurology, 3Division of Clinical Neurological Sciences, 4Child Health Research Institute, Schulich School of Medicine and Dentistry, University of Western Ontario ...
Ojha R, Prasad AN
doaj   +1 more source

Oxidative abnormalities in Menkes disease

Journal of Inherited Metabolic Disease, 2000
Menkes disease (MD; McKusick 309400) is an X-linked neurodegenerative disorder secondary to extrahepatic copper accumulation, caused by mutations of the gene encoding for the intracellular copper transporter ATPase alpha polypeptide (ATP7A). The clinical
C. Dionisi‐Vici, V. Leuzzi, E. Bertini, C. Dionisi Vici, G. Sabetta, G. Federici, A. Luchetti, F. Piemonte, C. Rizzo, LEUZZI, Vincenzo   +9 more
core   +4 more sources

Animal models of menkes disease

, 1999
Animal models of menkes ...
Julian Mercer (13076475), S Gazeas (13293852), S Horton (9938018), L Ambrosini (14575652), A Grimes (13652287)   +4 more
core   +3 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, Kam Lun Hon, Alexander K. C. Leung, Kristine Kit Yi Pang, Michael Wai Yip Leung   +4 more
doaj   +1 more source

Emergence of kinky hair in Menkes disease [PDF]

Arquivos de Neuro-Psiquiatria
Hannah A. Oppenheim, Maria A. Montenegro
doaj   +2 more sources

Menkes disease. [PDF]

Journal of Medical Genetics, 1995
The Menkes or kinky hair disease is a rare, sex-linked systemic disorder of the copper metabolism. It is lethal in the first three years due to cerebral and cerebellar degeneration. Apropos of their case the authors summarise the knowledge on the diagnosis, pathogenesis and therapy.
R, Simkó, B, Lombay, I, Velkey, A, Kiss, A, Gyurcsik, K, Váradi, K, Nagy   +6 more
openaire   +4 more sources

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, Carla da Silva Teixeira, Luiz Celso Pereira Vilanova, Cecilia Micheletti, Carmem Silvia Curiati Mendes, Maria Lucia Borri, Ana Maria Martins   +6 more
doaj   +1 more source

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

Infantile Neurodegeneration and Hair Changes: A Rare Case of Menkes Disease

Dubai Medical Journal, 2022
A 4-month-old, previously healthy boy presented with acute onset of prolonged, recurrent seizure activity followed by neurodevelopmental deterioration and concurrent hair shaft hypopigmentation with fragility.
Nikhil Vikas Pawar, Fatima Farid Mir
doaj   +1 more source

Menkes disease – An important cause of early onset refractory seizures

Journal of Pediatric Neurosciences, 2014
Context: Menkes disease is an X-linked multisystem disorder characterized by early onset of cerebral and cerebellar neurodegeneration, fair skin, hypopigmented sparse hair and connective tissue abnormalities.
Puneet Jain, Lakshminarayanan Kannan, Biswaroop Chakrabarty, Atin Kumar, Neerja Gupta, Madhulika Kabra, Sheffali Gulati   +6 more
doaj   +1 more source