Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Adviye A Tolun"'
Autor:
Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, Won‐Tae Kim, Maina P. Kava, Avihu Boneh, David Coman, Adviye Ayper Tolun, Kaustuv Bhattacharya
Publikováno v:
JIMD Reports, Vol 63, Iss 6, Pp 568-574 (2022)
Abstract 3‐Methylglutaconyl‐CoA hydratase deficiency (MGA1) is a defect in leucine catabolism, which causes the accumulation of urinary 3‐methylglutaconate, with or without 3‐hydroxyisovalerate and 3‐methylglutarate. It is an ultra‐rare c
Externí odkaz:
https://doaj.org/article/39ec7e9c371b427494f411a4a81cdbda
Autor:
Ashley Hertzog, Arthavan Selvanathan, Rebecca Halligan, Timothy Fazio, Gerard deJong, Drago Bratkovic, Kaustuv Bhattacharya, Adviye Ayper Tolun, Bruce Bennetts, Katrina Fisk
Publikováno v:
JIMD Reports, Vol 63, Iss 4, Pp 271-275 (2022)
Abstract Ornithine transcarbamylase deficiency (OTCD) is an X‐linked urea cycle disorder characterised by reduced or absent OTC enzyme activity, resulting in the accumulation of neurotoxic ammonia. Approximately 80%–90% of the causative variants
Externí odkaz:
https://doaj.org/article/8369048c96c14402aa1d899a83ae76a9
Autor:
Simone Coupe, Ashley Hertzog, Carolyn Foran, Adviye Ayper Tolun, Megan Suthern, Clara W. T. Chung, Carolyn Ellaway
Publikováno v:
Clinical Case Reports, Vol 11, Iss 2, Pp n/a-n/a (2023)
Abstract Smith‐Lemli‐Opitz syndrome (SLOS) is a relatively common genetic cause of developmental delay and may only present in conjunction with 2,3 toe syndactyly. This case series illustrates a milder phenotype of SLOS, where the predominant fin
Externí odkaz:
https://doaj.org/article/c3ae0c3b0f114a7a83dea528da6a3360
Publikováno v:
Genetics in Medicine Open, Vol 1, Iss 1, Pp 100220- (2023)
Externí odkaz:
https://doaj.org/article/c21470575c1949d7a3d641761c40192f
Autor:
Ashley Hertzog, Arthavan Selvanathan, Elizabeth Farnsworth, Michel Tchan, Louisa Adams, Katherine Lewis, Adviye Ayper Tolun, Bruce Bennetts, Gladys Ho, Kaustuv Bhattacharya
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Non-coding regions are areas of the genome that do not directly encode protein and were initially thought to be of little biological relevance. However, subsequent identification of pathogenic variants in these regions indicates there are exceptions
Externí odkaz:
https://doaj.org/article/a3aeb52c55d6400097248becbaff14a6
Autor:
Areeg El-Gharbawy, Adviye A. Tolun, Carine A. Halaby, Stephanie L. Austin, Priya S. Kishnani, Deeksha S. Bali
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 31, Iss , Pp 100856- (2022)
Introduction: Biotinidase synthesis is needed to recycle biotin for essential metabolic reactions. Biotinidase activity is lower than normal levels in advanced liver disease but is higher in hepatic glycogen storage disorders (GSDs), however the caus
Externí odkaz:
https://doaj.org/article/3a95e36ba6154a538cffa158ff834108
Autor:
Kaustuv Bhattacharya, Walid Matar, Adviye Ayper Tolun, Beena Devanapalli, Sue Thompson, Troy Dalkeith, Kate Lichkus, Michel Tchan
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Abstract Background Ketone bodies form a vital energy source for end organs in a variety of physiological circumstances. At different times, the heart, brain and skeletal muscle in particular can use ketones as a primary substrate. Failure to generat
Externí odkaz:
https://doaj.org/article/9561fcfc8ad44394981eb963dea606ec
Autor:
Ashley Hertzog, Arthavan Selvanathan, Beena Devanapalli, Gladys Ho, Kaustuv Bhattacharya, Adviye Ayper Tolun
Publikováno v:
Translational Pediatrics. 11:1704-1716
Traditional targeted metabolomic investigations identify a pre-defined list of analytes in samples and have been widely used for decades in the diagnosis and monitoring of inborn errors of metabolism (IEMs). Recent technological advances have resulte
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4892d5878f93d4e388957b06c8dee89d
https://doi.org/10.21037/tp-22-105
https://doi.org/10.21037/tp-22-105
Autor:
Ashley Hertzog, Arthavan Selvanathan, Dinusha Pandithan, Won‐Tae Kim, Maina P. Kava, Avihu Boneh, David Coman, Adviye Ayper Tolun, Kaustuv Bhattacharya
Publikováno v:
JIMD Reports. 63:568-574
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a4c6338bd37ee8573f2ed76b6b3077bb
https://doi.org/10.1002/jmd2.12332
https://doi.org/10.1002/jmd2.12332
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