TY - JOUR
T1 - Copper Metabolism in the Steely-Hair Syndrome
AU - Lott, Ira T.
AU - Dipaolo, Ronald
AU - Schwartz, Daniel
AU - Janowska, Stanislawa
AU - Kanfer, Julian N.
PY - 1975/1/23
Y1 - 1975/1/23
N2 - STEELY-hair syndrome, described by Menkes et al. in 19621is characterized by pili torti, developmental regression, seizures, temperature instability, arterial intimal abnormalities, and scorbutic bone changes.2Danks et al. have suggested that these manifestations are due to systemic copper deficiency and have demonstrated severely diminished copper concentrations in blood, brain, and liver of patients with the syndrome.3The copper deficiency appears to result from an impaired intestinal absorption of copper which is probably related to a defective transport of the ion across the serosal cell membrane. In an attempt to clarify the nature of the absorption defect, we performed copper.
AB - STEELY-hair syndrome, described by Menkes et al. in 19621is characterized by pili torti, developmental regression, seizures, temperature instability, arterial intimal abnormalities, and scorbutic bone changes.2Danks et al. have suggested that these manifestations are due to systemic copper deficiency and have demonstrated severely diminished copper concentrations in blood, brain, and liver of patients with the syndrome.3The copper deficiency appears to result from an impaired intestinal absorption of copper which is probably related to a defective transport of the ion across the serosal cell membrane. In an attempt to clarify the nature of the absorption defect, we performed copper.
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U2 - 10.1056/NEJM197501232920407
DO - 10.1056/NEJM197501232920407
M3 - Article
C2 - 1109210
AN - SCOPUS:0016437649
SN - 0028-4793
VL - 292
SP - 197
EP - 199
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 4
ER -