Results 41 to 50 of about 5,184,226 (184)

Wormian bones and dilated scalp veins in an infant with epilepsy

Journal of Pediatric Neurosciences, 2019
A three-months boy presented with recurrent seizures. On examination, he was fair, had dilated scalp veins, sparse hypopigmented hair, and was hypotonic. X-ray of the skull showed wormian bones. The child was diagnosed with Menkes disease. The manuscript
Manjinder Randhawa, Sumeet R Dhawan, Sugantha Kumar, Bhanudeep Singanamala, Anmol Bhatia, Lokesh Saini, Naveen Sankhyan   +6 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, Tomoyuki Takano, Tsutomu Narita, Yoshihiro Maruo   +3 more
doaj   +1 more source

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, Tamara Korolnek, Byung-Eun Kim, Byung-Eun Kim   +3 more
doaj   +1 more source

The T1048I mutation in ATP7A gene causes an unusual Menkes disease presentation

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, Santana Alfredo, Villegas-Sepúlveda Nicolás, Pérez-González Concepción, Henrríquez-Esquíroz José M, de León-García Carlota, Wong Carlos, Baeza Isabel   +7 more
doaj   +1 more source

Do Governance Structures Drive Green Building Adoption? A Machine Learning Approach With Random Forests

Business Strategy and the Environment, EarlyView.
ABSTRACT This study examines the determinants of firms' propensity to adopt green buildings in the Euro Stoxx 300 and the S&P 500 indices, during 2012–2023. Using random forest binary classifiers, we assess the relative importance of financial, sectoral, geographic, and climate governance predictors and uncover nonlinear relationships often overlooked ...
María del Carmen Valls Martínez, José Manuel Santos‐Jaén, María Estefanía Sánchez Pacheco, Fernando José Zambrano Farías   +3 more
wiley   +1 more source

Menkes disease [PDF]

, 2010
El objetivo de esta revisión es dar a conocer los principales elementos de la enfermedad de Menkes, un trastorno del metabolismo caracterizado por anomalías en la ruta metabólica del cobre, a través del transportador ATP7A, que se ve reflejado en ...
Londoño Suárez, Harold Leonardo
core  

Cyclic Disulfide Sorting Influenced by Subtle Steric and Electronic Effects

Chemistry – A European Journal, EarlyView.
The self‐assembly of two unsymmetrical dithiols to form cyclic disulfides are examined with an eye to the longitudinal equilibration behavior and directing agent effects on product distributions. Cyclic disulfide formation occurs in under 2 min, with full equilibration requiring up to 1 week.
Willow A. Davis, Emma J. Muller, Danah N. Hijaz, Noah A. Grinde, Violet M. Baird, Samuel J. Rundquist, Lev N. Zakharov, Darren W. Johnson   +7 more
wiley   +1 more source

Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes disease

Neurobiology of Disease, 2015
ATP7A mutations impair copper metabolism resulting in three distinct genetic disorders in humans. These diseases are characterized by neurological phenotypes ranging from intellectual disability to neurodegeneration. Severe ATP7A loss-of-function alleles
Stephanie Zlatic, Heather Skye Comstra, Avanti Gokhale, Michael J. Petris, Victor Faundez   +4 more
doaj   +1 more source

Inherited metabolic epilepsies–established diseases, new approaches

Epilepsia Open, EarlyView.
Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
wiley   +1 more source

How Has the Health of the United States Population Changed? Evidence From Biomarkers

Health Economics, EarlyView.
ABSTRACT Population health is a central input into social welfare, but health itself is complex and multidimensional. Mapping multiple dimensions of health into a single population health index may require strong assumptions about how to aggregate and weight across dimensions.
Sanchita Chakrovorty, Travis A. Smith
wiley   +1 more source