PMC Articles for MedGen (Select 934732) - PMC

Select item 98866631.

A novel homozygous SLC39A14 variant in an infant with hypermanganesemia and a review of the literature

Meijiao Zhang, Liping Zhu, Huiping Wang, Ying Hao, Qingping Zhang, Chunyan Zhao, Xinhua Bao

Front Pediatr. 2022; 10: 949651. Published online 2023 Jan 17. doi: 10.3389/fped.2022.949651

PMCID:: PMC9886663

Select item 95471472.

Clinical Profile and Treatment Outcomes of Hypermanganesemia with Dystonia 1 and 2 among 27 Indian Children

Divyani Garg, Sangeetha Yoganathan, Uzma Shamim, Kshitij Mankad, Parveen Gulati, Vincenzo Bonifati, Abhijeet Botre, Umesh Kalane, Arushi Gahlot Saini, Naveen Sankhyan, Kavita Srivastava, Vykuntaraju K. Gowda, Monica Juneja, Mahesh Kamate, Hansashree Padmanabha, Debasis Panigrahi, Shaila Pachapure, Vrajesh Udani, Atin Kumar, Sanjay Pandey, Maya Thomas, Sumita Danda, Shaikh Atif Iqbalahmed, Annadurai Subramanian, Harish Pemde, Varinder Singh, Mohammed Faruq, Suvasini Sharma

Mov Disord Clin Pract. 2022 Oct; 9(7): 886–899. Published online 2022 Aug 12. doi: 10.1002/mdc3.13516

PMCID:: PMC9547147

Abstract Article PDF–656K

Select item 94978973.

Hypermanganesemia with Dystonia Type 2: A Potentially Treatable Neurodegenerative Disorder: A Case Series in a Tertiary University Hospital

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

Children (Basel) 2022 Sep; 9(9): 1335. Published online 2022 Sep 1. doi: 10.3390/children9091335

PMCID:: PMC9497897

Abstract Article PDF–3.9M

Select item 92277174.

Loss of slc39a14 causes simultaneous manganese hypersensitivity and deficiency in zebrafish

Karin Tuschl, Richard J. White, Chintan Trivedi, Leonardo E. Valdivia, Stephanie Niklaus, Isaac H. Bianco, Chris Dadswell, Ramón González-Méndez, Ian M. Sealy, Stephan C. F. Neuhauss, Corinne Houart, Jason Rihel, Stephen W. Wilson, Elisabeth M. Busch-Nentwich

Dis Model Mech. 2022 Jun 1; 15(6): dmm044594. Published online 2022 Jun 15. doi: 10.1242/dmm.044594

PMCID:: PMC9227717

Abstract Article

Select item 66152355.

A case of dystonia with polycythemia and hypermanganesemia caused by SLC30A10 mutation: a treatable inborn error of manganese metabolism

Azita Tavasoli, Khadije Arjmandi Rafsanjani, Saba Hemmati, Marziyeh Mojbafan, Elham Zarei, Soudabeh Hosseini

BMC Pediatr. 2019; 19: 229. Published online 2019 Jul 9. doi: 10.1186/s12887-019-1611-7

PMCID:: PMC6615235

Abstract Article PDF–1.5M

Select item 57912436.

Hypermanganesemia due to mutations in SLC39A14: further insights into Mn deposition in the central nervous system

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

Orphanet J Rare Dis. 2018; 13: 28. Published online 2018 Jan 30. doi: 10.1186/s13023-018-0758-x

PMCID:: PMC5791243

Abstract Article PDF–1.2M

Select item 57640697.

Disorders of metal metabolism

Carlos R. Ferreira, William A. Gahl

Transl Sci Rare Dis. 2017; 2(3-4): 101–139. Prepublished online 2017 Nov 6. Published online 2017 Dec 18. doi: 10.3233/TRD-170015

PMCID:: PMC5764069

Abstract Article PDF–4.5M

Select item 49741058.

Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man

Karin Tuschl, Peter T. Clayton, Sidney M. Gospe, Jr., Shamshad Gulab, Shahnaz Ibrahim, Pratibha Singhi, Roosy Aulakh, Reinaldo T. Ribeiro, Orlando G. Barsottini, Maha S. Zaki, Maria Luz Del Rosario, Sarah Dyack, Victoria Price, Andrea Rideout, Kevin Gordon, Ron A. Wevers, W.K. ‘‘Kling’’ Chong, Philippa B. Mills

Am J Hum Genet. 2016 Aug 4; 99(2): 521. Published online 2016 Aug 2. doi: 10.1016/j.ajhg.2016.07.015