Results 21 to 30 of about 1,418 (198)

Pathogenic adaptations to host-derived antibacterial copper [PDF]

, 2014
Recent findings suggest that both host and pathogen manipulate copper content in infected host niches during infections. In this review, we summarize recent developments that implicate copper resistance as an important determinant of bacterial fitness at
Chaturvedi, Kaveri S, Henderson, Jeffrey P   +1 more
core   +3 more sources

Disorders of metal metabolism [PDF]

, 2017
Trace elements are chemical elements needed in minute amounts for normal physiology. Some of the physiologically relevant trace elements include iodine, copper, iron, manganese, zinc, selenium, cobalt and molybdenum.
Ferreira, Carlos, Gahl, William A.
core   +3 more sources

Menkes disease complicated by concurrent Koolen‐de Vries syndrome (17q21.31 deletion)

Molecular Genetics &Genomic Medicine, Volume 7, Issue 8, August 2019., 2019
Koolen‐de Vries syndrome is caused by a 17q21.31 deletion leading to clinical symptoms of hypotonia and developmental delay and can present with abnormal hair texture. Menkes disease is an X‐linked recessive inherited disease caused by pathogenic variants in ATP7A, which leads to profound copper deficiency and may present with hypotonia and abnormal ...
Taylor Woodfin, Christine Stoops, Joseph B. Philips III, Edward Lose, Fady M. Mikhail, Anna Hurst   +5 more
wiley   +1 more source

Metabolic etiologies in West syndrome

Epilepsia Open, Volume 3, Issue 2, Page 134-166, June 2018., 2018
Summary West syndrome (WS) is an early life epileptic encephalopathy associated with infantile spasms, interictal electroencephalography (EEG) abnormalities including high amplitude, disorganized background with multifocal epileptic spikes (hypsarrhythmia), and often neurodevelopmental impairments.
Seda Salar, Solomon L. Moshé, Aristea S. Galanopoulou   +2 more
wiley   +1 more source

Metabolic cutis laxa syndromes [PDF]

, 2011
Cutis laxa is a rare skin disorder characterized by wrinkled, redundant, inelastic and sagging skin due to defective synthesis of elastic fibers and other proteins of the extracellular matrix.
A Sarkozy, B Reversade, BD Gelb, BG Ng, C Noordam, C Vulpe, D Syx, D Valle, DL Guernsey, DM Danks, Dorus Kouwenberg, E Adams, E Elahi, E Leao-Teles, E Morava, E Morava, E Morava, E Morava, E Morava, E Morava, Eva Morava, F Bamatter, H Mégarbané, HC Hennies, I Grigoriev, J Camakaris, J Chelly, JF Mercer, JH Menkes, JM Phang, JM Phang, K Saito, L Basel-Vanagaite, L Maldergem Van, L Maldergem Van, LB Møller, LJ Spaapen, LS Bicknell, M Guillard, Miski Mohamed, MJ Petris, MR Baumgartner, MR Baumgartner, P Kamoun, Q Hu, RJ Smith, Ron A. Wevers, S Shafqat, S Wopereis, S Wopereis, SG Kaler, T Kleefstra, Thatjana Gardeitchik, U Kornak, UF Engelke, Uwe Kornak, V Hucthagowder, V Valayannopoulos, VK Proud, X Wu, Y Sun, Y Yamaguchi, Z Urban, Z Urban   +63 more
core   +3 more sources

Congenital Bladder Diverticulum in Adults: A Case Report and Review of the Literature

Case Reports in Urology, Volume 2018, Issue 1, 2018., 2018
A 37‐year‐old male patient presented to the emergency department with fever, gross hematuria, and irritative lower urinary tract symptoms. Investigations revealed the presence of a large left bladder diverticulum superior and lateral to the left ureteral orifice without bladder outlet obstruction.
Rawad Abou Zahr, Khalil Chalhoub, Farah Ollaik, Joe Nohra, Giorgio Carmignani   +4 more
wiley   +1 more source

Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease [PDF]

, 2011
Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and death in early
Bae, Sun Hwan, Chung, So Chung, Kim, Yong Hyuk, Lee, Ran, Park, Yong Mean, Son, Jae Sung, Yoo, Han Wook, Yum, Mi-Sun   +7 more
core   +2 more sources

Menkes Disease Presenting with Epilepsia Partialis Continua

Case Reports in Neurological Medicine, Volume 2014, Issue 1, 2014., 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 continua. Discussion.
Tamer Rizk, Adel Mahmoud, Tahani Jamali, Salah Al-Mubarak, Isabella Laura Simone   +4 more
wiley   +1 more source

Phenotypic convergence of Menkes and Wilson disease. [PDF]

, 2016
Menkes disease is an X-linked multisystem disorder with epilepsy, kinky hair, and neurodegeneration caused by mutations in the copper transporter ATP7A. Other ATP7A mutations have been linked to juvenile occipital horn syndrome and adult-onset hereditary
Aranyi, Zsuzsanna, Bansagi, Boglarka, Chinnery, Patrick F, Duff, Jennifer, Griffin, Helen, Horvath, Rita, Lewis-Smith, David, Lochmüller, Hanns, Müller, Juliane S, Pal, Endre, Pyle, Angela, Rudas, Gabor   +11 more
core   +1 more source

Inborn errors of metabolism causing epilepsy

Developmental Medicine &Child Neurology, Volume 55, Issue 1, Page 23-36, January 2013., 2013
Seizures may be the first and the major presenting feature of an inborn error of metabolism (IEM), for example in a neonate with pyridoxine‐dependent epilepsy. In other IEMs, seizures may be preceded by other major symptoms: by a reduced level of consciousness in a child with an organic acidaemia or urea cycle defect; or by loss of skills, progressive ...
SHAMIMA RAHMAN, EMMA J FOOTITT, SOPHIA VARADKAR, PETER T CLAYTON   +3 more
wiley   +1 more source