Vacuolization in Myeloid and Erythroid Precursors in a Child with Menkes Disease [PDF]
Turkish Journal of Hematology, 2019 A 5-year-old boy who was in follow-up with a clinical and biochemical diagnosis of Menkes disease (MD) since 10 months of age was admitted with diarrhea.
Seçil Sayın +3 more
doaj +3 more sources
Menkes' disease: case report Doença de Menkes: relato de caso [PDF]
Arquivos de Neuro-Psiquiatria, 2007 Menkes’ disease is a rare neurodegenerative disorder due to an intracellular defect of a copper transport protein. We describe a 7 months male patient who presented with seizures, hypoactivity and absence of visual contact.
Fabio Agertt +7 more
doaj +3 more sources
Infantile Neurodegeneration and Hair Changes: A Rare Case of Menkes Disease [PDF]
Dubai Medical Journal, 2022 A 4-month-old, previously healthy boy presented with acute onset of prolonged, recurrent seizure activity followed by neurodevelopmental deterioration and concurrent hair shaft hypopigmentation with fragility.
Nikhil Vikas Pawar, Fatima Farid Mir
doaj +2 more sources
The Activity of Menkes Disease Protein ATP7A Is Essential for Redox Balance in Mitochondria [PDF]
Journal of Biological Chemistry, 2016 Copper-transporting ATPase ATP7A is essential for mammalian copper homeostasis. Loss of ATP7A activity is associated with fatal Menkes disease and various other pathologies. In cells, ATP7A inactivation disrupts copper transport from the cytosol into the
Haojun Yang, Megan Duffy, Michael Murphy
exaly +3 more sources
Menkes disease diagnosed by a novel ATP7A frameshift mutation in a patient with infantile spasms-a case report. [PDF]
Transl Pediatr, 2021 Li J +5 more
europepmc +3 more sources
Alpha-synuclein null mutation exacerbates the phenotype of a model of Menkes disease in female mice [PDF]
Frontiers in NeuroscienceHuman SNCA, which encodes a-synuclein protein (SNCA), was the first gene linked to familial Parkinson’s disease (PD). Since the discovery of the genetic link of SNCA to Parkinson’s nearly three decades ago, many studies have investigated the normal ...
MegAnne Casey +4 more
doaj +2 more sources
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 and release of life-sustaining proteins and enzymes.
Ramani PK, Parayil Sankaran B.
europepmc +3 more sources
Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease. [PDF]
Genes (Basel), 2021 Martinez-Fierro ML +13 more
europepmc +3 more sources
Severe Shock Caused by Rupture of Bladder Diverticulum in a Patient With Menkes Disease: A Case Report [PDF]
Clinical Case ReportsMenkes disease (MD) is an X‐linked copper metabolism disorder associated with bladder diverticula (BD). BD in MD may easily perforate more than common BD because of connective tissue damage.
Shunsuke Fujii +6 more
doaj +2 more sources
Menkes Maple Syrup Urine Disease: Treatment
Pediatric Neurology Briefs, 1991 Five patients with maple syrup urine disease were treated intra-venously with branched-chain amino acid-free solution of amino acids during nine episodes of acute illness and are reported from the Children’s Hospital of Philadelphia, PA.
J Gordon Millichap
doaj +2 more sources