Results 81 to 90 of about 1,071 (127)
Some of the next articles are maybe not open access.
Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy)
2022Christos P Panteliadis +2 more
exaly +2 more sources
INTRAVENOUS COPPER IN MENKES' KINKY-HAIR SYNDROME
Lancet, The, 1975H Wehinger, I Witt
exaly +2 more sources
Early osseous abnormalities in Menkes' Kinky Hair Syndrome
Pediatric Radiology, 1979Bone changes in a 4 m.o. infant with Menkes' Kinky Hair Syndrome, who also had a skeletal survey as a newborn, are reported. Whereas the late bone changes were diagnostic, the neonatal ones were similar to congenital rubella and cytomegalic virus infection. However the distribution of the metaphyseal changes were different.
K, Kozlowski, R, McCrossin
openaire +2 more sources
Menkes Kinky-Hair Syndrome (Trichopoliodystrophy)
American Journal of Diseases of Children, 1973Kinky-hair syndrome, a progressive neurodegenerative disorder which affects infant males and is characterized by unusual hair, seizures, psychomotor retardation, growth failure, and early death, was first described by Menkes et al. 1 Since the original description, 11 more cases have been reported from this country.
S, Singh, M J, Bresnan
openaire +2 more sources
Menkes Kinky Hair Syndrome in a Black Infant
Archives of Pediatrics & Adolescent Medicine, 1974Copper deficiency has been shown to be characteristic of kinky hair syndrome, and it is postulated to be responsible for the clinicopathological features of this sex-linked, recessive, neurodegenerative disorder. The syndrome includes seizures, mental retardation, abnormal hair, skeletal deformities, abnormally tortuous arteries, hypothermia, and early
openaire +2 more sources
Difficulties in the Neonatal Diagnosis of Menkes' Kinky Hair Syndrome—Trichopoliodystrophy
Clinical Pediatrics, 1984The recognition of Menkes' kinky hair syndrome, trichopoliodystrophy, may present problems in the early neonatal period. The serum copper, and ceruloplasmin levels are within the range of normal infants in the first week of life; they are higher than normal in the cord blood of affected infants and fall gradually.
T R, Gunn, S, Macfarlane, L I, Phillips
openaire +2 more sources
Menkes kinky hair disease (Menkes syndrome). A case report.
Acta dermatovenerologica Alpina, Pannonica, et Adriatica, 2006Menkes disease (MD) is a rare genetic neurodegenerative disorder. It is caused by a mutation in the ATP7A gene, which codes for the copper-transporting ATPase in the cell organelles. Dysfunction of many copper-dependent enzymes results in low concentrations of copper in some tissues and accumulation of copper in others.
Fister, Petja +3 more
openaire +2 more sources
Menkes' Kinky Hair Syndrome: Ultrastructural Cutaneous Alterations of the Elastic Fibers
Pediatric Dermatology, 1997Abstract: Menkes' kinky hair syndrome is associated with the defecive functioning of several copper‐dependent enzymes due to impaired copper absorption, transport, or metabolism. Lysyl oxidase is a copper‐requiring enzyme that catalyzes the oxidative deamination of lysyl residues linking two adjacent chains of tropoelastin polypeptides into an ...
C, Martins +5 more
openaire +2 more sources