Results 51 to 60 of about 9,332,063 (205)
Orvosi hetilap, 1995 The Menkes or kinky hair disease is a rare, sex-linked systemic disorder of the copper metabolism. It is lethal in the first three years due to cerebral and cerebellar degeneration. Apropos of their case the authors summarise the knowledge on the diagnosis, pathogenesis and therapy.
R, Simkó +6 more
openaire +4 more sources
Oral Elesclomol Treatment Alleviates Copper Deficiency in Animal Models
Frontiers in Cell and Developmental Biology, 2022 Copper (Cu) is an essential trace element for key biochemical reactions. Dietary or genetic copper deficiencies are associated with anemia, cardiomyopathy, and neurodegeneration.
Sai Yuan +3 more
doaj +1 more source
Pigment International, 2018 Menkes disease is an X-linked lethal multisystem disorder caused by the disturbances of copper distribution in different tissues due to the mutation of ATPA7 gene.
Aayushi Mohan +3 more
doaj +1 more source
Increased apoptosis and hypomyelination in cerebral white matter of macular mutant mouse brain
Molecular Genetics and Metabolism Reports, 2015 Hypomyelination in developing brain is often accompanied by congenital metabolic disorders. Menkes kinky hair disease is an X-linked neurodegenerative disease of impaired copper transport, resulting from a mutation of the Menkes disease gene, a ...
Shoichi Takikita +3 more
doaj +1 more source
The T1048I mutation in
BMC Pediatrics, 2012 Background The ATP7A gene encodes the ATP7A protein, which is a trans-Golgi network copper transporter expressed in the brain and other organs. Mutations in this gene cause disorders of copper metabolism, such as Menkes disease.
León-García Gregorio +7 more
doaj +1 more source
Biochemical Marker for Menkes Disease
Pediatric Neurology Briefs, 1993 Plasma and CSF levels of catechols in 10 patients with Menkes disease, ranging in age from 9 days to 27 months, were compared with control groups and patients with congenital absence of dopamine-B-hydroxylase (DBH) at the National Institutes of Health ...
J Gordon Millichap
doaj +1 more source
Menkes kinky hair disease: Role of dermatologist
Indian Journal of Paediatric Dermatology, 2018 Menkes kinky hair disease is an X-linked recessive multisystem disorder which mainly involves a central nervous system and usually presents in early infancy.
Bela Jaswantlal Shah +2 more
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Evaluation of hair structural abnormalities in children with different neurological diseases
The Turkish Journal of Pediatrics, 2022 Background. Hair microscopy is a fast and effortless diagnostic method for many diseases affecting hair in daily practice. Many diseases can present with hair shaft disorders in pediatric neurology practice. Methods.
Süleyman Hilmi Sevinç, Sedat Işıkay
doaj +1 more source
Journal of Cutaneous Medicine and Surgery, 2020 Maria Dolores Fernandez Ballesteros +1 more
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Deep Underground Science and Engineering, EarlyView.In this review, the application of micro‐CT and medical‐CT scanning in the oil and gas industry has been thoroughly discussed. Recent improvements in DRP and modern imaging techniques in the oil and gas industry have been modeled using both experimental and simulation work.
Achinta Bera +2 more
wiley +1 more source