Results 1 to 10 of about 1,418 (198)
Menkes Kinky Hair Syndrome: A Rare Neurodegenerative Disease [PDF]
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 +4 more
doaj +9 more sources
Teaching Neuro Images : Menkes kinky hair syndrome [PDF]
Neurology, 2013 Six-month-old twins, born to a consanguineous couple, presented with hypotonia, hypothermia, seizures, and developmental delay. The babies were fair complexioned; scalp hairs were sparse, light-colored, and fragile (figure 1), with regularly spaced twists (pili-torti) and nodes (trichorrhexis-nodosa).
R. Seshadri +2 more
openalex +4 more sources
Low function of natural killer cells in treated classic Menkes disease [PDF]
The Turkish Journal of Pediatrics, 2020 Background. Menkes disease (MD) is a rare lethal X-linked, multisystem disorder of copper metabolism resulting from mutations in the ATP7A gene.
Jayalakshmi Narayan Bhat, Paul Maertens
doaj +3 more sources
DEFECTIVE INTRACELLULAR COPPER TRANSLOCATION IN MENKES KINKY HAIR SYNDROME [PDF]
Pediatric Research, 1987 Menkes kinky hair syndrome is an x-linked neurode-generative disorder causing tissue-specific increases in copper (Cu) and metallothionein (MT) concentrations. Previous work has shown that MT gene regulation may be normal in Menkes. However, abnormalities in Cu retention and utilization by mutant cells suggest that the basic defect may reside in the ...
Seymour Packman +2 more
openalex +2 more sources
Menkes kinky hair syndrome: A case report
Dermatology Online Journal, 2012 Menkes kinky hair syndrome, also known as trichopoliodystrophy, is a rare X-linked recessive, progressive neurodegenerative disorder characterized clinically by progressive psychomotor impairment, treatment-refractory seizures, and hair shaft abnormalities, most commonly pilli torti. The condition is related to a mutation in a copper transporting gene,
Sangita Ghosh, Soumik Chaudhuri
openalex +5 more sources
Doença de Menkes: relato de caso com comprometimento da substância branca cerebral [PDF]
, 2001 Menkes disease is a rare X-linked disorder related to a defect in the copper metabolism. According to the current literature, the most frequent neuroimaging findings are cortical atrophy, chronic subdural effusion or hygroma, and vascular abnormalities ...
Borri, Maria Lucia +6 more
core +5 more sources
Menkes kinky hair syndrome. [PDF]
AJNR Am J Neuroradiol, 1993 Houston CS, Harding SR.
europepmc +2 more sources
Uma causa muito rara de espasmos infantis [PDF]
, 2020 Psychomotor development regression or delay associated with epilepsy represent a diagnostic challenge. The diagnostic approach should take into account age group, epileptic syndrome, physical and neurological data, and organ and/or system involvement ...
Bandeira, Anabela +4 more
core +1 more source
Atp7a-regulated enzyme metalation and trafficking in the menkes disease puzzle [PDF]
, 2021 Copper is vital for numerous cellular functions affecting all tissues and organ systems in the body. The copper pump, ATP7A is critical for whole-body, cellular, and subcellular copper homeostasis, and dysfunction due to genetic defects results in Menkes
Horn, Nina, Wittung Stafshede, Pernilla
core +1 more source