Results 131 to 140 of about 1,418 (198)
Menkes' Kinky Hair Syndrome: Ultrastructural Cutaneous Alterations of the Elastic Fibers
Pediatric Dermatology, 1997 Abstract: 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 ...
César Martins +5 more
openalex +3 more sources
Menkes Kinky Hair Syndrome: Is it a treatable disorder?
Clinical Genetics, 1977 A male infant with Menkes Kinky Hair Syndrome was treated with a 3‐week course of cupric acetate infusions, which was terminated when he developed aminoaciduria. The lack of improvement seen in this infant is representative of the reported experience with parenteral copper therapy in this condition, and may be attributable to the presence of a ...
Adolfo D. Garnica +2 more
openalex +3 more sources
Menkes' kinky hair syndrome: a genetic disease involving copper.
Federation proceedings, 1976 The kinky hair syndrome (KHS) is an X-linked defect of copper transport in man. An animal model is available in mutants at the X-linked mottled locus in mice. The defect does not involve the uptake of copper from the intestinal lumen but rather the transport of copper from intestinal cells.
Holtzman Na
openalex +3 more sources
Oral manifestations of Menkes' kinky hair syndrome.
The Journal of clinical pediatric dentistry, 2001 Menkes' Kinky Hair Syndrome (MKHS) comprises an array of clinical manifestations including hair shaft abnormalities, epidermal hypopigmentation, and progressive cerebral degeneration that are transmitted as an X-linked recessive disorder affecting copper transport pathways in primarily young males.
Jeffrey N. Brownstein, R E Primosch
openalex +2 more sources
MENKES‘ KINKY‐HAIR (STEELY‐HAIR) SYNDROME
Developmental Medicine & Child Neurology, 1974 Neil Gordon
openalex +3 more sources
Difficulties in the Neonatal Diagnosis of Menkes' Kinky Hair Syndrome—Trichopoliodystrophy
Clinical Pediatrics, 1984 The 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. Pili torti may only develop later, as
Tania R. Gunn +2 more
openalex +3 more sources
Menkes Syndrome (Kinky Hair Disease; Trichothiodystrophy)
, 2022 Christos P. Panteliadis, Christian Hagel
openalex +2 more sources
[Kinky hair disease (Menkes' syndrome)].
Nihon rinsho. Japanese journal of clinical medicine, 1978 Minoru OHTAKE, Kurisu Tada
openalex +2 more sources