Results 71 to 80 of about 1,071 (127)

Pediatric Wilson Disease in Sudan: A Rare Case, Sudan Conflict and Diagnostic Challenges. [PDF]

Clin Case Rep
Mohammed AAA, HabeebAllah AAM, Mohammed SSH, Almamoon AKMA, Ahmed MMB, Aref AMA, Bashir FBO, Altegani TMN, Ahmed AAE.   +8 more
europepmc   +1 more source

Case Report: A male newborn with occipital horn syndrome. [PDF]

F1000Res
Georgeos MKH, Hanna EM.
europepmc   +1 more source

Elesclomol rescues mitochondrial copper deficiency in disease models without triggering cuproptosis. [PDF]

J Pharmacol Exp Ther
Zulkifli M, Maremanda KP, Okonkwo AU, Farid I, Gohil VM.   +4 more
europepmc   +1 more source

Copper, Cuproptosis, and Neurodegenerative Diseases. [PDF]

Int J Mol Sci
Genchi G, Catalano A, Carocci A, Sinicropi MS, Lauria G.   +4 more
europepmc   +1 more source

A primer on copper biology in the brain. [PDF]

Neurobiol Dis
Lane AR, Roberts BR, Fahrni CJ, Faundez V.   +3 more
europepmc   +1 more source

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MENKES' KINKY-HAIR SYNDROME

Lancet, The, 1972
Abstract Copper deficiency has been demonstrated in seven babies with Menkes' kinky-hair syndrome. Gross changes in free sulphydryl groups in hair keratin, consistent with copper deficiency, probably explain the kinky hair. Copper deficiency also explains the important changes in the elastic fibres in the arterial walls, the scorbutic bone changes ...
J M Gillespie
exaly   +3 more sources

MENKES'S KINKY HAIR SYNDROME

Pediatrics, 1972
Seven new cases of Menkes's kinky hair syndrome are described from five families. These patients were seen in a period of 3 years in Melbourne and the frequency of the disease is estimated to be 1 in 35,000 live births. Seven other affected males were present in these families and each pedigree was compatible with X-linked inherintance ...
David M Danks, P E Campbell, Danks David M   +2 more
exaly   +2 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, Jaime L Frías, Owen M Rennert   +2 more
exaly   +3 more sources

The failure of parenteral copper therapy in Menkes Kinky Hair Syndrome

European Journal of Pediatrics, 1984
In the untreated infant with Menkes Kinky Hair Syndrome, copper concentrations in brain and liver are deficient, while excessive copper accumulates in other tissues. The observed serum ceruloplasmin response after parenteral copper administration is suggestive of an impairment in the incorporation of copper into this metalloprotein.
Adolfo D Garnica
exaly   +3 more sources