Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW, Australia

Autor: Noha Elserafy, Sue Thompson, Troy Dalkeith, Michael Stormon, Gordon Thomas, Albert Shun, Janine Sawyer, Shanti Balasubramanian, Kaustuv Bhattacharya, Nadia Badawi, Carolyn Ellaway

Publikováno v: JIMD Reports, Vol 60, Iss 1, Pp 88-95 (2021)

Abstract Background Inborn errors of metabolism (IEM) are a diverse group of genetic disorders that can result in significant morbidity and sometimes death. Metabolic management can be challenging and burdensome for families. Liver transplantation (L

Externí odkaz: https://doaj.org/article/f05824fbcb964f8ba17bc941adabc2e8

Liver transplantation in children with inborn errors of metabolism: 30 years experience in NSW , Australia

Autor: Kaustuv Bhattacharya, Shanti Balasubramanian, Albert Shun, Carolyn Ellaway, Gordon Thomas, Troy Dalkeith, Noha Elserafy, Michael Stormon, Janine Sawyer, Susan Thompson, Nadia Badawi

Publikováno v: JIMD Reports, Vol 60, Iss 1, Pp 88-95 (2021)
JIMD Reports

Background Inborn errors of metabolism (IEM) are a diverse group of genetic disorders that can result in significant morbidity and sometimes death. Metabolic management can be challenging and burdensome for families. Liver transplantation (LT) is inc

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::25c7aa3b410415685eb86c623b70f316
https://doi.org/10.1002/jmd2.12219

Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural and Functional Analysis of 14 ClC-7 Mutants

Autor: Shanti Balasubramanian, Miguel R. Abboud, Cristina Sobacchi, Maria Antonietta Pisanti, Baldassarre Martire, Robert Chiesa, Laura Lagostena, Fiorella Gurrieri, Ariana Kariminejad, Dario Strina, Gareth Baynam, Eleonora Di Zanni, Asma Rehman, Alessandra Picollo, Christine P Burren, Lien De Somer, Eleonora Palagano, Ilaria De Maggio, Justin C. Brown, Anna Villa, Mario Abinun

Publikováno v: Journal of bone and mineral research 36 (2020): 535–541. doi:10.1002/jbmr.4200
info:cnr-pdr/source/autori:Eleonora Di Zanni 1, Eleonora Palagano 2 3, Laura Lagostena 1, Dario Strina 2 3, Asma Rehman 4, Mario Abinun 5 6, Lien De Somer 7, Baldassarre Martire 8, Justin Brown 9 10, Ariana Kariminejad 11, Shanti Balasubramanian 12, Gareth Baynam 13 14 15 16, Fiorella Gurrieri 17, Maria A Pisanti 18, Ilaria De Maggio 18, Miguel R Abboud 19, Robert Chiesa 20, Christine P Burren 21 22, Anna Villa 2 23, Cristina Sobacchi 2 3, Alessandra Picollo 1/titolo:Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural and Functional Analysis of 14 ClC-7 Mutants/doi:10.1002%2Fjbmr.4200/rivista:Journal of bone and mineral research/anno:2020/pagina_da:535/pagina_a:541/intervallo_pagine:535–541/volume:36
Di Zanni, E, Palagano, E, Lagostena, L, Strina, D, Rehman, A, Abinun, M, De Somer, L, Martire, B, Brown, J, Kariminejad, A, Balasubramanian, S, Baynam, G, Gurrieri, F, Pisanti, M A, De Maggio, I, Abboud, M R, Chiesa, R, Burren, C P, Villa, A, Sobacchi, C & Picollo, A 2020, ' Pathobiologic Mechanisms of Neurodegeneration in Osteopetrosis Derived from Structural and Functional Analysis of 14 ClC-7 Mutants ', Journal of Bone and Mineral Research . https://doi.org/10.1002/jbmr.4200

ClC-7 is a chloride-proton antiporter of the CLC protein family. In complex with its accessory protein Ostm-1, ClC-7 localizes to lysosomes and to the osteoclasts' ruffled border, where it plays a critical role in acidifying the resorption lacuna dur

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b137296a52c0cb5371623fdd31814b90