Results 81 to 90 of about 5,184,226 (184)

Bilateral ultrasound transversus abdominis plane block in a patient affected from Menkes disease

Pediatric Reports, 2012
This case report demonstrates the utility and safety of ultrasound transversus abdominis plane (TAP) block in a paediatric patient suffering from Menkes disease.
Dario Galante, Marco Caruselli, Francesco Dones, Salvatore Meola, Gianluca Russo, Giuseppe Pellico, Antonio Caso, Massimo Lambo, Flora Donadei, Giuseppe Mincolelli   +9 more
doaj   +1 more source

Molecular structure of the menkes disease gene (ATP7A)

, 1995
Molecular structure of the menkes disease gene ...
TW Glover (14575286), Julian Mercer (13076475), J Spencer (13405047), HA Dierick (14575283), L Ambrosini (14575652)   +4 more
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Correction of cerebrospinal fluid copper in Menkes Kinky Hair disease [PDF]

, 1991
A patient with Menkes Kinky Hair disease was treated with infusions of copper-histidine which resulted in normal copper values in the cerebrospinal fluid.
Kollros, Peter R., Dick, Robert D., Brewer, George J.   +2 more
core   +1 more source

The Menkes Disease Protein Binds Copper via Novel 2-Coordinate Cu(I)−Cysteinates in the N-Terminal Domain

, 2016
The Menkes Disease Protein Binds Copper via Novel 2-Coordinate Cu(I)−Cysteinates in the N-Terminal ...
Martina Ralle (2367373), Svetlana Lutsenko (156211), Ninian J. Blackburn (1308168), Matthew J. Cooper (386826)   +3 more
core   +1 more source

MOLECULAR-STRUCTURE OF THE MENKES DISEASE GENE REVEALS UNUSUAL ALTERNATIVE SPLICING IN THE 5' END

, 1995
MOLECULAR-STRUCTURE OF THE MENKES DISEASE GENE REVEALS UNUSUAL ALTERNATIVE SPLICING IN THE 5 ...
L AMBROSINI (14577551), TW GLOVER (14577557), J SPENCER (14578130), Julian Mercer (13076475), HA DIERICK (14578127)   +4 more
core   +1 more source

Menkes disease. A clinical case of a rare disorder of copper metabolism caused by a mutation in the ATP7A gene

Якутский медицинский журнал
The article presents the features of diagnostics and dynamic monitoring of a patient with Menkes disease, a rare disorder of copper metabolism caused by a mutation in the ATP7A gene.
G. O. Momot, A. A. Shalygina, E. V. Krukovich, I. S. Zelenkova   +3 more
doaj   +1 more source

Bilateral aneurysm of the internal jugular vein associated with menkes disease: Diagnosis, risk factors and management

, 2015
Menkes disease is a rare genetic disease due to an abnormality in copper metabolism. Clinical picture mainly includes neurological and cutaneous symptoms, and may present vascular complications. We report two cases of bilateral aneurysms of
Barth, M., Bonnet, Jb, Küster, Alice, Gautier , A., Piloquet, Hugues, Hauet, Q., Hauet , Q., Pistorius, M.A., Moizard, MP., Gautier, A.   +9 more
core   +1 more source

Oral history of Edith Menkes Wolloch.

, 2006
March 2006Edith C. Menkes (later Wolloch) was born May 17, 1921 in Vienna, Austria. After the Anschluss in 1938 she managed to escape Austria. She went to England.
Wolloch, Edith Menkes
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Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease

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, Ritu Kakkar, Sajeev Rajan, Rashmi Bhangale, Shrinivas Desai   +4 more
doaj   +1 more source

Characterization of the exon structure of the Menkes disease gene using vectorette PCR.

, 1995
The gene defective in Menkes disease, an X-linked recessive disturbance of copper metabolism, has been isolated and predicted to encode a copper-binding P-type ATPase.
Horn, Nina, Monaco, Anthony P., TONNESEN, T, Tønnesen, Tønne, Tümer, Zeynep, Chelly, Jamel, VURAL, Burçak, HORN, N, TUMER, Z, CHELLY, J, MONACO, AP   +10 more
core   +1 more source