Results 11 to 20 of about 5,184,226 (184)
Neuroimaging in Menkes disease
Journal of Pediatric Neurosciences, 2017 Menkes disease (MD) is a rare infantile onset neurodegenerative disorder due to mutations in the X linked ATP7A gene. These patients can present with failure to thrive, severe psychomotor retardation, seizures and hypopigmented hair, which is ...
Molla I. Ahmed, Nahin Hussain
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Neonatal Diagnosis and Treatment of Menkes Disease
Pediatric Neurology Briefs, 2008 Infants diagnosed with Menkes disease early by plasma neurochemical methods and treated early, within 22 days after birth, with copper replacement therapy, had a 92% survival rate vs 13% in those treated late, Median follow-up in 12 newborns treated ...
J Gordon Millichap
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Menkes Disease: Copper-Histidine Therapy
Pediatric Neurology Briefs, 1993 The response to subcutaneous copper-histidine treatment (50 - 150 mcg Cu/kgm/daily) in seven children with Menkes disease (Kinky-Hair disease) is reported from the Hospital for Sick Children and University of Toronto, Canada.
J Gordon Millichap
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Pediatric Neurology Briefs, 1994 Fibroblast cultures from 12 unrelated patients with classical Menkes disease, an X-linked disorder of copper metabolism, were analyzed for mutations in the MNK gene at the Howard Hughes Medical Institute, University of California, San Francisco.
J Gordon Millichap
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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
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European Journal of Medical and Health ResearchMenkes disease (MD) is a serious mother-to-child disease transmitted by the X sexual chromosome. Copper is involved in the formation of red blood cells, the absorption and utilization of iron, the metabolism of cholesterol and glucose, and the synthesis ...
Khaleel, Abdulrahman Khalid Yaqoub +4 more
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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
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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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Mottled mice and non-mammalian models of Menkes disease [PDF]
Frontiers in Molecular Neuroscience, 2015 Menkes disease is a multi-systemic copper metabolism disorder caused by mutations in the X-linked ATP7A gene and characterised by progressive neurodegeneration and severe connective tissue defects.
malgorzata elenartowicz +6 more
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Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion) [PDF]
Molecular Genetics & Genomic Medicine, 2019 Background Koolen‐de Vries (KdV) syndrome is caused by a 17q21.31 deletion leading to clinical symptoms of hypotonia and developmental delay and can present with abnormal hair texture.
Taylor Woodfin +5 more
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