Results 161 to 170 of about 9,332,063 (205)

Pharmacokinetics of CuGTSM, a Novel Drug Candidate, in a Mouse Model of Menkes Disease

Pharmaceutical Research, 2021
Y. Yamagishi, T. Kudo, M. Oyumi, Yusuke Sakamoto, Kazuki Takahashi, Taiki Akashi, S. Kobayashi, Takeaki Kawakami, H. Goda, Yasuhiro Sato, M. Mimaki, H. Kodama, M. Munakata, Kosho Makino, Hideyo Takahashi, T. Fukami, Kiyomi Ito   +16 more
semanticscholar   +1 more source

Cerebral infarction in Menkes’ disease

Pediatric Neurology, 2000
Menkes' disease is an X-linked disorder caused by impaired intracellular transport of copper. Currently, no therapy effectively arrests the relentless neurodegeneration of Menkes' disease. Previous neuroimaging reports of patients with Menkes' disease describe a range of abnormalities, including intracranial vessel tortuosity and cerebral white matter ...
G E, Hsich, R L, Robertson, M, Irons, J S, Soul, A J, du Plessis   +4 more
openaire   +2 more sources

Oxidative abnormalities in Menkes disease

Journal of Inherited Metabolic Disease, 2000
Menkes disease (MD; McKusick 309400) is an X-linked neurodegenerative disorder secondary to extrahepatic copper accumulation, caused by mutations of the gene encoding for the intracellular copper transporter ATPase alpha polypeptide (ATP7A). The clinical picture is characterized by severe psychomotor retardation, seizures, skin hypopigmentation and ...
C. Rizzo, E. Bertini, F. Piemonte, LEUZZI, Vincenzo, G. Sabetta, G. Federici, A. Luchetti, C. Dionisi Vici   +7 more
openaire   +3 more sources

Menkes Disease- Clinical Presentation and Imaging Characteristics.

Neuropediatrics, 2022
Margaret Means, S. Sotardi, Jessie Reynoso Santos, L. Beslow   +3 more
semanticscholar   +1 more source

Menkes disease and infantile epilepsy

Brain and Development, 2011
Menkes disease, an X linked recessive neurodegenerative disorder, results from a mutation in the gene coding for the copper transporting ATPase (ATP7A). Epilepsy is a major clinical feature of this disorder. We describe the clinical presentation, evolution of epilepsy and explore the biological underpinnings of epileptogenesis in Menkes disease ...
Asuri N, Prasad, Simon, Levin, C Anthony, Rupar, Chitra, Prasad   +3 more
openaire   +2 more sources

Serial imaging of Menkes disease

Neuroradiology, 1990
The patient developed myoclonic seizures at 3 months of age and his hair demonstrated the pili torti pattern. The low serum copper content and ceruloplasmin confirmed the diagnosis of Menkes disease. The characteristic signs on the images were: high echo level regions in the cerebrum as detected by brain ultrasonography, low density areas of white ...
K, Ichihashi, S, Yano, S, Kobayashi, M, Miyao, M, Yanagisawa   +4 more
openaire   +2 more sources

Ectodermal manifestations in Menkes disease

Clinical Genetics, 1985
Hair and skin pigmentation changes are described in males with Menkes disease from birth to 12 years of age and in 28 obligate carrier or at‐risk females. Pili torti were observed in all affected males and in 43% of the females studied. The presence of pili torti may be considered a reliable diagnostic feature of the carrier state.
C M, Moore, R R, Howell
openaire   +2 more sources

Menkes disease

The Indian Journal of Pediatrics, 1988
A, Gupta, N K, Arora, N, Desai, A, Bagga, V, Seth   +4 more
openaire   +2 more sources

Menkes kinky hair disease (Menkes syndrome). A case report.

Acta dermatovenerologica Alpina, Pannonica, et Adriatica, 2006
Menkes 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, Gnidovec Stražišar, Barbara, Rakuš, Jona, Rener-Primec, Zvonka   +3 more
openaire   +2 more sources

Menkes Disease

Advances in Pediatrics, 1994
openaire   +2 more sources