Zobrazeno 1 - 10
of 68
pro vyhledávání: '"Shanti, Balasubramaniam"'
Autor:
Wui‐Kwan Wong, Shanti Balasubramaniam, Rachel S. H. Wong, Nicole Graf, David R. Thorburn, Robert McFarland, Christopher Troedson
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 546-554 (2022)
Abstract The C‐terminal binding protein 1 (CTBP1) functions as a transcriptional corepressor in vertebrates and has been identified to have critical roles in nervous system growth and development. Pathogenic variants in the CTBP1 gene has been show
Externí odkaz:
https://doaj.org/article/df0e1594280e47c0a558ea4c173944ec
Autor:
Milena M. Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G. Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H. Rodan, David R. Thorburn, John Christodoulou, Siddharth Srivastava
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 391-399 (2022)
Abstract Biallelic pathogenic variants in NDUFS8, a nuclear gene encoding a subunit of mitochondrial complex I, result in a mitochondrial disorder characterized by varying clinical presentations and severity. Here, we expand the neuroimaging and clin
Externí odkaz:
https://doaj.org/article/5e92826c8aaa46bd8ced6c614e9e01de
Publikováno v:
JIMD Reports, Vol 54, Iss 1, Pp 9-15 (2020)
Abstract Pyridoxine‐dependent epilepsy (PDE) is a potentially treatable vitamin‐responsive epileptic encephalopathy. The most prevalent form of PDE is due to an underlying genetic defect in ALDH7A1 encoding Antiquitin (ATQ), an enzyme with α‐a
Externí odkaz:
https://doaj.org/article/adac464e9ae14927bfc958989779419c
Autor:
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M. Enns, Carolyn Ellaway, Shanti Balasubramaniam, Pascale De Lonlay, David Coman, Saadet Mercimek‐Andrews, Peter Witters, Eva Morava
Publikováno v:
JIMD Reports, Vol 51, Iss 1, Pp 76-81 (2020)
Abstract Background Phosphomannomutase 2 deficiency (PMM2‐CDG) is the most common congenital disorder of glycosylation (CDG). Hypoglycemia has been reported in various CDG including PMM2‐CDG. The frequency and etiology of hypoglycemia in PMM2‐C
Externí odkaz:
https://doaj.org/article/151cd56dc2504f1ca67551566a900c29
Autor:
Kaustuv Bhattacharya, Shanti Balasubramaniam, Kevin Murray, Heidi Peters, David Ketteridge, Anita Inwood, Joy Lee, Carolyn Ellaway, Penny Owens, Melanie Wong, Christine Ly, Jim McGill
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)
Abstract The safety and efficacy of elosulfase alfa were evaluated in a multicenter, open-label, phase 3b study in Australian Morquio A patients, consisting of a 49-week initial phase and an extension phase until elosulfase alfa was government funded
Externí odkaz:
https://doaj.org/article/dae1f9a672474bbca5c3a5f334009db9
Autor:
Wui‐Kwan Wong, Shanti Balasubramaniam, Rachel S. H. Wong, Nicole Graf, David R. Thorburn, Robert McFarland, Christopher Troedson
Publikováno v:
JIMD Reports. 63:546-554
Autor:
Milena M. Andzelm, Shanti Balasubramaniam, Edward Yang, Alison G. Compton, Kate Millington, Jia Zhu, Irina Anselm, Lance H. Rodan, David R. Thorburn, John Christodoulou, Siddharth Srivastava
Publikováno v:
JIMD Reports. 63:391-399
Autor:
Rachel Sze Hui Wong, Shekeeb Mohammad, Bindu Parayil Sankaran, Rosie Junek, Won-Tae Kim, Tiffany Wotton, Sushil Bandodkar, Shanti Balasubramaniam
Publikováno v:
Brain and Development.
Autor:
Mona Sajeev, Sharon Chin, Gladys Ho, Bruce Bennetts, Bindu Parayil Sankaran, Bea Gutierrez, Beena Devanapalli, Adviye Ayper Tolun, Veronica Wiley, Janice Fletcher, Maria Fuller, Shanti Balasubramaniam
Publikováno v:
International Journal of Neonatal Screening, Vol 7, Iss 2, p 25 (2021)
Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and valine. Biallelic pathogenic variants in BCKDHA, BCKDHB, or DBT genes result in enzyme deficie
Externí odkaz:
https://doaj.org/article/979438ed99754cd6b70d5292626f35db
Autor:
Fabienne Edema-Hildebrand, Jacqui Russell, Catherine Bonifant, David Coman, Dominic Thyagarajan, David A. Mackey, Karen Crawley, Christine Wools, Nicholas J.C. Smith, Joy Lee, Merrilee Needham, Lisa S. Kearns, Maina P. Kava, Carolyn Ellaway, Christina Liang, Shanti Balasubramaniam, John Christodoulou, Rocio Rius, Carolyn M. Sue, Sean Murray, Drago Bratkovic, Roula Ghaoui
Publikováno v:
Internal Medicine Journal. 52:110-120
This document provides consensus-based recommendations for general physicians and primary care physicians who diagnose and manage patients with mitochondrial diseases (MD). It builds on previous international guidelines, with particular emphasis on c