Zobrazeno 1 - 10
of 136
pro vyhledávání: '"Hypermanganesemia"'
Autor:
Rosalinda Giannini, Emanuele Agolini, Giuseppe Palumbo, Antonio Novelli, Giacomo Garone, Melissa Grasso, Giovanna Stefania Colafati, Marta Matraxia, Eleonora Piccirilli, Annalisa Deodati, Giulia Ceglie
Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Congenital erythrocytosis recognizes heterogeneous genetic basis and despite the use of NGS technologies, more than 50% of cases are still classified as idiopathic. Herein, we describe the case of a 3-year-old boy with a rare metabolic disorder due t
Externí odkaz:
https://doaj.org/article/75e0bf1198af45a399afc46be23166d1
Akademický článek
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Publikováno v:
Frontiers in Pediatrics, Vol 10 (2023)
BackgroundManganese (Mn) is an essential trace metal necessary for good health; however, excessive amounts in the body are neurotoxic. To date, three genes (SLC30A10, SLC39A8, and SLC39A14) have been discovered to cause inborn errors in Mn metabolism
Externí odkaz:
https://doaj.org/article/bf7f11158f6946f18115c88a87859f3b
Publikováno v:
Annals of Indian Academy of Neurology, Vol 24, Iss 1, Pp 15-21 (2021)
Although acquired manganese neurotoxicity has been widely reported since its first description in 1837 and is popularly referred to as “manganism,” inherited disorders of manganese homeostasis have received the first genetic signature as recently
Externí odkaz:
https://doaj.org/article/16eb409827364150bc5dc4348c21ef5d
Publikováno v:
Surgical Case Reports, Vol 6, Iss 1, Pp 1-5 (2020)
Abstract Background Congenital portosystemic shunt (CPSS) is a rare malformation that leads to hyperammonemia, hypermanganesemia, and various symptoms. CPSSs are divided into intrahepatic and extrahepatic shunts. In patients with persistent CPSS incl
Externí odkaz:
https://doaj.org/article/635ea02e86d0456aa4b08cf0c9095229
Autor:
Azita Tavasoli, Khadije Arjmandi Rafsanjani, Saba Hemmati, Marziyeh Mojbafan, Elham Zarei, Soudabeh Hosseini
Publikováno v:
BMC Pediatrics, Vol 19, Iss 1, Pp 1-6 (2019)
Abstract Background Manganese is a critical trace element that not only has antioxidant properties, but also is essential for various metabolic pathways and neurotransmitters production. However, it can be toxic at high levels, particularly in the ce
Externí odkaz:
https://doaj.org/article/27010929c87b44c9b3dcb3e2e2081938
Autor:
Khalid A. Alhasan, Walaa Alshuaibi, Muddathir H. Hamad, Suha Salim, Dima Z. Jamjoom, Aqeela H. Alhashim, Malak Ali AlGhamdi, Amal Y. Kentab, Fahad A. Bashiri
Publikováno v:
Children, Vol 9, Iss 9, p 1335 (2022)
Importance: Hypermanganesemia with dystonia type 2 is a rare autosomal recessive neurodegenerative disorder characterized by the loss of previously acquired milestones, dystonia, parkinsonian features, a high serum manganese level, and characteristic
Externí odkaz:
https://doaj.org/article/d7de030f5995434a943fbef7d4dc8554
Publikováno v:
Epilepsy & Behavior Reports, Vol 16, Iss , Pp 100505- (2021)
Manganese is an essential element that is ubiquitously present in our diet and water supply. It is a cofactor for several critical physiological processes. Elevated blood levels of Manganese secondary to SLC30A10 gene mutation presents distinctly wit
Externí odkaz:
https://doaj.org/article/1468a42a35764b1a9ee1596499f7bc8b
Akademický článek
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Autor:
L. Marti-Sanchez, J. D. Ortigoza-Escobar, A. Darling, M. Villaronga, H. Baide, M. Molero-Luis, M. Batllori, M. I. Vanegas, J. Muchart, L. Aquino, R. Artuch, A. Macaya, M. A. Kurian, Pérez Dueñas
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 13, Iss 1, Pp 1-8 (2018)
Abstract Background The SLC39A14, SLC30A10 and SLC39A8 are considered to be key genes involved in manganese (Mn) homeostasis in humans. Mn levels in plasma and urine are useful tools for early recognition of these disorders. We aimed to explore furth
Externí odkaz:
https://doaj.org/article/23d5f411c5bc4037ad9c1d9130d81edf