Results 31 to 40 of about 1,418 (198)
Menkes disease – a rare disorder requiring interdisciplinary management
Pediatria PolskaMenkes disease is a rare, X-linked recessive neurodegenerative disorder caused by mutations in the ATP7A gene, resulting in defective copper transport. The clinical picture is dominated by early-onset neurological decline, connective tissue abnormalities,
Magdalena Jaworek +7 more
doaj +1 more source
Ocular Abnormalities in Menkes' Kinky-Hair Syndrome
American Journal of Ophthalmology, 1974 American Journal of Ophthalmology 77 (1974) 319-325.
Departments of Ophthalmology and Pediatrics, College of Medicine, University of Florida, Gainesville, FloridaDepartments of Ophthalmology and PediatricsCollege of MedicineUniversity of FloridazGainesvilleFlorida ( host institution ) +4 more
openaire +3 more sources
Congenital and Acquired Abnormalities of the Corpus Callosum: A Pictorial Essay
BioMed Research International, Volume 2013, Issue 1, 2013., 2013 The purpose of this review is to illustrate the wide spectrum of lesions in the corpus callosum, both congenital and acquired: developmental abnormalities, phakomatoses, neurometabolic disorders, demyelinating diseases, infection and inflammation, vascular lesions, neoplasms, traumatic and iatrogenic injury, and others. Cases include fetuses, children,
Katarzyna Krupa +2 more
wiley +1 more source
Inherited Copper Transport Disorders: Biochemical Mechanisms, Diagnosis, and Treatment [PDF]
, 2013 Copper is an essential trace element required by all living organisms. Excess amounts of copper, however, results in cellular damage. Disruptions to normal copper homeostasis are hallmarks of three genetic disorders: Menkes disease, occipital horn ...
Bhadhprasit, Wattanaporn +2 more
core +3 more sources
Diffusion-Weighted MR Imaging of Unusual White Matter Lesion in a Patient with Menkes Disease [PDF]
, 2007 We report here on the diffusion-weighted imaging of unusual white matter lesions in a case of Menkes disease. On the initial MR imaging, the white matter lesions were localized in the deep periventricular white matter in the absence of diffuse cortical ...
Blaser +15 more
core +2 more sources
Mottled mice and non-mammalian models of Menkes disease [PDF]
, 2015 Menkes disease is a multi-systemic copper metabolism disorder caused by mutations in the X-linked ATP7A gene and characterised by progressive neurodegeneration and severe connective tissue defects.
Grzmil, Paweł +6 more
core +2 more sources
Menke\u27s kinky hair syndrome--a rare medical condition. [PDF]
, 2005 The case of a 16-month-old boy is described who had typical clinical and radiological features and was proven biochemically to be a case of Menke\u27s disease.
Al-Bita, Yaseer +2 more
core +1 more source
Menkes kinky hair disease: A case report [PDF]
, 2008 An eight month old male infant with protein energy malnutrition was admitted in the hospital with the history of repeated attacks of convulsion since four months of age.
Asok K Datta +10 more
core +3 more sources
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
Epilepsy secondary to Menkes' disease: five cases report and review of literature
Chinese Journal of Contemporary Neurology and Neurosurgery, 2014 Objective To study the clinical features of patients with Menkes' disease (MD) that initiate from seizures, and to reinforce the knowledge of etiological diagnosis of secondary epilepsy.
Pei-yuan ZHANG, Yu-qin ZHANG
doaj