Search Results - "Devanapalli, Beena"

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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GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome by Sankaran, Bindu Parayil, Gupta, Sachin, Tchan, Michel, Devanapalli, Beena, Rahman, Yusof, Procopis, Peter, Bhattacharya, Kaustuv

“…Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication…”
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The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders by Bhattacharya, Kaustuv, Matar, Walid, Tolun, Adviye Ayper, Devanapalli, Beena, Thompson, Sue, Dalkeith, Troy, Lichkus, Kate, Tchan, Michel

“…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…”
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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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Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning by Sajeev, Mona, Chin, Sharon, Ho, Gladys, Bennetts, Bruce, Sankaran, Bindu Parayil, Gutierrez, Bea, Devanapalli, Beena, Tolun, Adviye Ayper, Wiley, Veronica, Fletcher, Janice, Fuller, Maria, Balasubramaniam, Shanti

“…Maple syrup urine disease is caused by a deficiency of branched-chain alpha-ketoacid dehydrogenase, responsible for degradation of leucine, isoleucine, and…”
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Effect of long-term storage at −80 °C on the various lipid parameters in stored plasma samples by Devanapalli, Beena, Bermingham, Margaret A., Mahajan, Deepika

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Multiple acyl-Coa dehydrogenase deficiency (MADD) – adult and neonatal presentation by Devanapalli, Beena, Tchan, Michel, Ellaway, Carolyn, Tolun, Adviye Ayper

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Maternal carnitine uptake deficiency detected by newborn screening by Devanapalli, Beena, Carpenter, Kevin

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GLRX5-associated Fe-S cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome by Sankaran, Bindu Parayil, Gupta, Sachin, Tchan, Michel, Devanapalli, Beena, Rahman, Yusof, Procopis, Peter, Bhattacharya, Kaustuv

“…Identification and characterisation of monogenic causes of complex neurological phenotypes are important for genetic counselling and prognostication…”
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Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach by Wong, Rachel Sze Hui, Mohammad, Shekeeb, Parayil Sankaran, Bindu, Junek, Rosie, Kim, Won-Tae, Wotton, Tiffany, Devanapalli, Beena, Bandodkar, Sushil, Balasubramaniam, Shanti

“…Hyperphenylalaninemia is a biomarker for several monogenic neurotransmitter disorders where the body cannot metabolise phenylalanine to tyrosine. Biallelic…”
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Connective tissue presentation in two families expands the phenotypic spectrum of PYROXD1 disorders by Evesson, Frances J, Dziaduch, Gregory, Bryen, Samantha J, Moore, Francesca, Pittman, Sara, Devanapalli, Beena, Waddell, Leigh B, Ryan, Monique M, Menezes, Manoj P, Weihl, Conrad C, Tolun, Adviye Ayper, Zaidman, Craig, Young, Helen, Adès, Lesley C, Cooper, Sandra T

“…Abstract Recessive variants in the oxidoreductase PYROXD1 are reported to cause a myopathy in 22 affected individuals from 15 families. Here, we describe two…”
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Recapitulation of Skewed X-Inactivation in Female Ornithine Transcarbamylase-Deficient Primary Human Hepatocytes in the FRG Mouse: A Novel System for Developing Epigenetic Therapies by Cunningham, Sharon C, van Dijk, Eva B, Zhu, Erhua, Sugden, Maya, Mandwie, Mawj, Siew, Susan, Devanapalli, Beena, Tolun, Adviye Ayper, Klein, Anne, Wilson, Laurence, Aryamanesh, Nader, Gissen, Paul, Baruteau, Julien, Bhattacharya, Kaustuv, Alexander, Ian E

“…Realization of the immense therapeutic potential of epigenetic editing requires development of clinically predictive model systems that faithfully recapitulate…”
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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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New insights into carnitine‐acylcarnitine translocase deficiency from 23 cases: Management challenges and potential therapeutic approaches by Ryder, Bryony, Inbar‐Feigenberg, Michal, Glamuzina, Emma, Halligan, Rebecca, Vara, Roshni, Elliot, Aoife, Coman, David, Minto, Tahlee, Lewis, Katherine, Schiff, Manuel, Vijay, Suresh, Akroyd, Rhonda, Thompson, Sue, MacDonald, Anita, Woodward, Abigail J. M., Gribben, Joanne. E. L., Grunewald, Stephanie, Belaramani, Kiran, Hall, Madeleine, Haak, Natalie, Devanapalli, Beena, Tolun, Adviye Ayper, Wilson, Callum, Bhattacharya, Kaustuv

“…Carnitine acyl‐carnitine translocase deficiency (CACTD) is a rare autosomal recessive disorder of mitochondrial long‐chain fatty‐acid transport. Most patients…”
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First steps in the harmonisation of adult plasma amino acid reference intervals in Australasia by de Hora, Mark, Pitt, James, Mishra, Avantika, Devanapalli, Beena, McWhinney, Brett, McWhinney, Avis, Greed, Lawrence, Carpenter, Kevin

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Effect of long-term storage at -80 degrees C on the various lipid parameters in stored plasma samples by Devanapalli, Beena, Bermingham, Margaret A, Mahajan, Deepika

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Developmental delay and non-phenylketonuria (PKU) hyperphenylalaninemia in DNAJC12 deficiency: Case and approach by Wong, Rachel Sze Hui, Mohammad, Shekeeb, Parayil Sankaran, Bindu, Junek, Rosie, Kim, Won-Tae, Wotton, Tiffany, Devanapalli, Beena, Bandodkar, Sushil, Balasubramaniam, Shanti

“…BACKGROUNDHyperphenylalaninemia is a biomarker for several monogenic neurotransmitter disorders where the body cannot metabolise phenylalanine to tyrosine…”
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Challenges in Diagnosing Intermediate Maple Syrup Urine Disease by Newborn Screening and Functional Validation of Genomic Results Imperative for Reproductive Family Planning by Sajeev, Mona, Chin, Sharon, Ho, Gladys, Bennetts, Bruce, Sankaran, Bindu Parayil, Gutierrez, Bea, Devanapalli, Beena, Tolun, Adviye Ayper, Wiley, Veronica, Fletcher, Janice, Fuller, Maria, Balasubramaniam, Shanti

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