Results 151 to 160 of about 9,332,063 (205)
Scientific Reports, 2017 Menkes disease (MD) is caused by mutations in ATP7A, encoding a copper-transporting P-type ATPase which exhibits copper-dependent trafficking.
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Cellular and Molecular Life Sciences, 2007
Menkes disease is caused by mutations in the copper-transporting P(1B)-type ATPase ATP7A. ATP7A has a dual function: it serves to incorporate copper into copper-dependent enzymes, and it maintains intracellular copper levels by removing excess copper from the cytosol.
BERTINI, IVANO, ROSATO, ANTONIO
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Menkes disease is caused by mutations in the copper-transporting P(1B)-type ATPase ATP7A. ATP7A has a dual function: it serves to incorporate copper into copper-dependent enzymes, and it maintains intracellular copper levels by removing excess copper from the cytosol.
BERTINI, IVANO, ROSATO, ANTONIO
openaire +2 more sources
American Journal of Medical Genetics. Part A, 2020
Classic Menkes disease is a rare X‐linked recessive disorder of copper metabolism caused by pathogenic variants in the copper transporter gene, ATP7A. Untreated affected individuals suffer failure to thrive and neurodevelopmental delays that begin at 6–8
Kristen E Stevens +3 more
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Classic Menkes disease is a rare X‐linked recessive disorder of copper metabolism caused by pathogenic variants in the copper transporter gene, ATP7A. Untreated affected individuals suffer failure to thrive and neurodevelopmental delays that begin at 6–8
Kristen E Stevens +3 more
semanticscholar +1 more source
Laparoscopic patch repair of a Morgagni hernia in Menkes disease
Asian Journal of Endoscopic Surgery, 2020The association between Morgagni hernia and Menkes disease has not yet been described. Here, we report such a rare association in an 8‐year‐old boy who presented with subocclusive symptoms. He successfully underwent laparoscopic repair with a patch.
S. Ceccanti +3 more
semanticscholar +1 more source
BMJ Case Reports
Menkes disease is a multisystem disorder caused by disturbances in copper absorption and metabolism. This lethal neurodegenerative disease presents with fine, ‘kinky’ hair, connective tissue dysfunction and developmental regression after 2–3 months of ...
Amy Backal +3 more
semanticscholar +1 more source
Menkes disease is a multisystem disorder caused by disturbances in copper absorption and metabolism. This lethal neurodegenerative disease presents with fine, ‘kinky’ hair, connective tissue dysfunction and developmental regression after 2–3 months of ...
Amy Backal +3 more
semanticscholar +1 more source
ATP7A mutations in 66 Japanese patients with Menkes disease and carrier detection: A gene analysis
Pediatrics International, 2019Menkes disease (MNK; MIN 309400) is an X‐linked recessive lethal disorder of copper metabolism caused by mutations in ATP7A (MIM 300011), which encodes a transmembrane copper‐transporting P‐type ATPase.
C. Fujisawa +4 more
semanticscholar +1 more source
Human Genetics, 1991
We have calculated the incidence of Menkes disease for Denmark, France, The Netherlands, the United Kingdom and West Germany, based on known Menkes patients born during the time period 1976-87. Considering live-born Menkes patients, the combined incidence for these five countries is 1 Menkes patient per 298,000 live-born babies.
T, Tønnesen, W J, Kleijer, N, Horn
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We have calculated the incidence of Menkes disease for Denmark, France, The Netherlands, the United Kingdom and West Germany, based on known Menkes patients born during the time period 1976-87. Considering live-born Menkes patients, the combined incidence for these five countries is 1 Menkes patient per 298,000 live-born babies.
T, Tønnesen, W J, Kleijer, N, Horn
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Neuroradiology, 1977
Four new cases of Menkes' kinky hair disease are reported with special attention to the vascular and particularly the cerebral vascular changes.
P, Ahlgren, S, Vestermark
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Four new cases of Menkes' kinky hair disease are reported with special attention to the vascular and particularly the cerebral vascular changes.
P, Ahlgren, S, Vestermark
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Neuropathology of Menkes' Disease
Developmental Medicine & Child Neurology, 1978SUMMARYThree new unrelated cases of Menkes' disease are recorded. All three were male infants and died between six and 14 months of age. In each case the clinical diagnosis was confirmed by low serum levels of copper and by examination of the abnormal hair.
R O, Barnard, P V, Best, M, Erdohazi
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MENKES' KINKY (STEELY) HAIR DISEASE
Australasian Journal of Dermatology, 1977Summary A case of Menkes’kinky hair disease is presented, with emphasis on the clinical features of interest to dermatologists. Attention is drawn to the neuropathological changes which suggest an onset of the disease in utero. Recent advances in the defect of copper metabolism are reviewed.
A, Hockey, C L, Masters
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