Results 31 to 40 of about 9,332,063 (205)
Molecular Therapy: Methods & Clinical Development, 2018 Menkes disease is a lethal neurodegenerative disorder of copper metabolism caused by mutations in an evolutionarily conserved copper transporter, ATP7A.
Marie Reine Haddad +10 more
doaj +2 more sources
Menkes disease – a rare disorder requiring interdisciplinary management [PDF]
Pediatria PolskaMenkes disease is a rare, X-linked recessive neurodegenerative disorder caused by mutations in the ATP7A gene, resulting in defective copper transport. The clinical picture is dominated by early-onset neurological decline, connective tissue abnormalities,
Magdalena Jaworek +7 more
doaj +2 more sources
Menkes Disease Presenting with Epilepsia Partialis Continua [PDF]
Case Reports in Neurological Medicine, 2014 Aim. We aim to describe a female patient with Menkes disease who presented with epilepsia partialis continua. Case Presentation. Seventeen-months-old Saudi infant was presented with repetitive seizures and was diagnosed to have epilepsia partialis ...
Tamer Rizk +3 more
doaj +2 more sources
Neonatal Diagnosis and Treatment of Menkes Disease
New England Journal of Medicine, 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 ...
Stephen G Kaler +2 more
exaly +3 more sources
Clinical expression of Menkes disease in females with normal karyotype [PDF]
Orphanet Journal of Rare Diseases, 2012 Background Menkes Disease (MD) is a rare X-linked recessive fatal neurodegenerative disorder caused by mutations in the ATP7A gene, and most patients are males.
Møller Lisbeth +13 more
doaj +2 more sources
Copper-histidine therapy in an infant with novel splice-site variant in the ATP7A gene of Menkes disease: the first experience in South East Asia and literature review. [PDF]
BMJ Case Rep, 2022 Menkes disease (MD) is an X linked recessive multi-systemic disorder of copper metabolism, resulting from an ATP7A gene mutation. We report a male infant aged 4 months who presented with kinky hair, hypopigmented skin, epilepsy and delayed development ...
Panichsillaphakit E +3 more
europepmc +2 more sources
European Journal of Human Genetics, 2009 Menkes disease (MD) is a lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration and connective tissue disturbances, together with the peculiar 'kinky' hair are the main manifestations. MD is inherited as an X-linked recessive trait, and as expected the vast majority of patients are males.
Tümer, Zeynep, Møller, Lisbeth B
+6 more sources
Emergence of kinky hair in Menkes disease [PDF]
Arquivos de Neuro-PsiquiatriaHannah A. Oppenheim, Maria A. Montenegro
doaj +2 more sources
Urological Problems in Patients with Menkes Disease. [PDF]
J Korean Med Sci, 2019 Background Menkes disease (MD) is a rare X-linked hereditary multisystemic disorder that is caused by dysfunction of copper metabolism. Patients with MD typically present with progressive neurodegeneration, some connective tissue abnormalities, and ...
Kim MY +9 more
europepmc +2 more sources