Search Results - "Hertzog, Ashley"

Regulation of mitochondrial metabolism in murine skeletal muscle by the medium‐chain fatty acid receptor Gpr84 by Montgomery, Magdalene K., Osborne, Brenna, Brandon, Amanda E., O'Reilly, Liam, Fiveash, Corrine E., Brown, Simon H. J., Wilkins, Brendan P., Samsudeen, Azrah, Yu, Josephine, Devanapalli, Beena, Hertzog, Ashley, Tolun, Adviye A., Kavanagh, Tomas, Cooper, Antony A., Mitchell, Todd W., Biden, Trevor J., Smith, Nicola J., Cooney, Gregory J., Turner, Nigel

“…Fatty acid receptors have been recognized as important players in glycaemic control. This study is the first to describe a role for the medium‐chain fatty acid…”
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Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases by Thompson, Susan, Hertzog, Ashley, Selvanathan, Arthavan, Batten, Kiera, Lewis, Katherine, Nisbet, Janelle, Mitchell, Ashleigh, Dalkeith, Troy, Billmore, Kate, Moore, Francesca, Tolun, Adviye Ayper, Devanapalli, Beena, Bratkovic, Drago, Hilditch, Cathie, Rahman, Yusof, Tchan, Michel, Bhattacharya, Kaustuv

“…3-Hydroxy-3-Methylglutaryl-CoA Lyase (HMGCL) deficiency can be a very severe disorder that typically presents with acute metabolic decompensation with features…”
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Intronic variants in inborn errors of metabolism: Beyond the exome by Hertzog, Ashley, Selvanathan, Arthavan, Farnsworth, Elizabeth, Tchan, Michel, Adams, Louisa, Lewis, Katherine, Tolun, Adviye Ayper, Bennetts, Bruce, Ho, Gladys, Bhattacharya, Kaustuv

“…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,…”
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P191: Mitochondrial dysfunction in Rett syndrome: Searching for biomarkers by Hertzog, Ashley, Tolun, Adviye Ayper, Ellaway, Carolyn, Gold, Wendy, Ho, Gladys

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3‐Methylglutaconyl‐CoA hydratase deficiency: When ascertainment bias confounds a biochemical diagnosis by Hertzog, Ashley, Selvanathan, Arthavan, Pandithan, Dinusha, Kim, Won‐Tae, Kava, Maina P., Boneh, Avihu, Coman, David, Tolun, Adviye Ayper, Bhattacharya, Kaustuv

“…3‐Methylglutaconyl‐CoA hydratase deficiency (MGA1) is a defect in leucine catabolism, which causes the accumulation of urinary 3‐methylglutaconate, with or…”
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Keeping you on your toes: Smith–Lemli–Opitz Syndrome is an easily missed cause of developmental delays by Coupe, Simone, Hertzog, Ashley, Foran, Carolyn, Tolun, Adviye Ayper, Suthern, Megan, Chung, Clara W. T., Ellaway, Carolyn

“…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…”
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A serendipitous journey to a promoter variant: The c.‐106C>A variant and its role in late‐onset ornithine transcarbamylase deficiency by Hertzog, Ashley, Selvanathan, Arthavan, Halligan, Rebecca, Fazio, Timothy, Jong, Gerard, Bratkovic, Drago, Bhattacharya, Kaustuv, Tolun, Adviye Ayper, Bennetts, Bruce, Fisk, Katrina

“…Ornithine transcarbamylase deficiency (OTCD) is an X‐linked urea cycle disorder characterised by reduced or absent OTC enzyme activity, resulting in the…”
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Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls by Selvanathan, Arthavan, Hertzog, Ashley, Lemberg, Daniel A., Ellaway, Carolyn

“…ABSTRACT Ornithine transcarbamylase deficiency (OTCD) is the most common of the urea cycle disorders and follows an X‐linked inheritance pattern. The classical…”
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STANDARD BIOMARKERS DO NOT CORRELATE WITH DISEASE PROGRESSION IN CHILDHOOD-ONSET COBALAMIN C DISEASE by Selvanathan, Arthavan, Hertzog, Ashley, Ellaway, Carolyn, Lewis, Katherine, Lichkus, Kate, Adams, Louisa, Bhattacharya, Kaustuv, Tolun, Adviye

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Inborn errors of metabolism refuse to stay‐at‐home: Experiences of a state‐wide biochemical genetics service during the COVID‐19 pandemic by Gutierrez, Bea, Hertzog, Ashley, Badman, Susan, Tolun, Adviye A

“…Aim The New South Wales (NSW) biochemical genetics (BG) service in Australia developed business continuity plans (BCPs) in response to the COVID‐19 pandemic to…”
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Ornithine Transcarbamylase Deficiency Presenting as Acute Liver Failure in Girls: A Paediatric Case Series by Selvanathan, Arthavan, Hertzog, Ashley, Lemberg, Daniel A., Ellaway, Carolyn

“…ABSTRACTOrnithine transcarbamylase deficiency (OTCD) is the most common of the urea cycle disorders and follows an X-linked inheritance pattern. The classical…”
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A narrative review of metabolomics in the era of “-omics”: integration into clinical practice for inborn errors of metabolism by Hertzog, Ashley, Selvanathan, Arthavan, Devanapalli, Beena, Ho, Gladys, Bhattacharya, Kaustuv, Tolun, Adviye Ayper

“…Background and ObjectiveTraditional targeted metabolomic investigations identify a pre-defined list of analytes in samples and have been widely used for…”
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Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism by Hertzog, Ashley, Selvanathan, Arthavan, Tolun, Adviye A, Parayil Sankaran, Bindu, Bhattacharya, Kaustuv

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Purpuric, delayed child: Beyond septicaemia and into inborn errors of metabolism by Hertzog, Ashley, Selvanathan, Arthavan, Tolun, Adviye A, Parayil Sankaran, Bindu, Bhattacharya, Kaustuv

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