Results 1 to 10 of about 1,055 (116)
Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease [PDF]
Case Reports in Radiology, 2012 Menkes kinky hair disease is a rare X-linked recessive disease nearly exclusively affecting males who present at 2-3 months of age due to abnormal functioning of copper-dependent enzymes due to deficiency of copper.
Rozil Gandhi +4 more
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PARENTERAL COPPER IN MENKES' KINKY-HAIR SYNDROME
Lancet, The, 1975 The Lancet 306 (1975) 659-660. doi:10.1016/S0140-6736(75)90140-3 ; Received by publisher: 0000-01-01 ; Harvest Date: 2016-01-04 12:21:14 ; DOI:10.1016/S0140-6736(75)90140-3 ; Page Range: 659 ...
Adolfo D Garnica
exaly +3 more sources
Low function of natural killer cells in treated classic Menkes disease
The Turkish Journal of Pediatrics, 2020 Background. Menkes disease (MD) is a rare lethal X-linked, multisystem disorder of copper metabolism resulting from mutations in the ATP7A gene.
Jayalakshmi Narayan Bhat, Paul Maertens
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Menkes’ Syndrome with Cerebellar Hypoplasia
Pediatric Neurology Briefs, 1997 A 14-month-old boy with Menkes’ kinky hair syndrome (MS) associated with deafness and inferior cerebellar vermian hypoplasia was admitted with convulsions and urinary infection at Karadeniz Technical University, Trabzon, Turkey.
J Gordon Millichap
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Menkes kinky hair syndrome: A case report
Dermatology Online Journal, 2012 Menkes kinky hair syndrome, also known as trichopoliodystrophy, is a rare X-linked recessive, progressive neurodegenerative disorder characterized clinically by progressive psychomotor impairment, treatment-refractory seizures, and hair shaft abnormalities, most commonly pilli torti. The condition is related to a mutation in a copper transporting gene,
Ghosh, Sangita, Chaudhuri, Soumik
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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
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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
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Teaching Neuro Images : Menkes kinky hair syndrome [PDF]
Neurology, 2013 Six-month-old twins, born to a consanguineous couple, presented with hypotonia, hypothermia, seizures, and developmental delay. The babies were fair complexioned; scalp hairs were sparse, light-colored, and fragile (figure 1), with regularly spaced twists (pili-torti) and nodes (trichorrhexis-nodosa).
Roopa, Seshadri, P S, Bindu, A K, Gupta
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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
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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
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