By Associate Professor Kaustuv Bhattacharya

Conference Papers

Frazier AE; Compton AG; Kishita Y; Hock DH; Welch AE; Amarasekera SSC; Rius R; Formosa LE; Imai-Okazaki A; Francis D; Wang M; Lake NJ; Tregoning S; Jabbari JS; Lucattini A; Nitta R; Ohtake A; Murayama K; Amor DJ; McGillivray G; Wong FY; van der Knaap MS; Vermeulen RJ; Wiltshire EJ; Fletcher JM; Lewis B; Baynam G; Ellaway C; Balasubramaniam S; Bhattacharya K; Freckmann ML; Taft RJ; Sadedin S; Cowley MJ; Minoche AE; Calvo SE; Mootha VK; Ryan MT; Okazaki Y; Stroud DA; Simons C; Christodoulou J; Thorburn DR, 2020, 'Recurrent de novo ATAD3 duplications cause fatal perinatal mitochondrial cardiomyopathy, persistent hyperlactacidemia, encephalopathy and heart-specific mitochondrial oxidative phosphorylation complex I deficiency.', in EUROPEAN JOURNAL OF HUMAN GENETICS, SPRINGERNATURE, pp. 56 - 58

Selvanathan A; Ellaway C; Wilson C; Owens P; Shaw P; Bhattacharya K, 2018, 'Effectiveness of early hematopoietic stem cell transplantation in preventing neurocognitive decline in mucopolysaccharidosis type II: A case series', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. S127 - S128, presented at We're Organizing Research for Lysosomal Diseases (WORLD) Symposium, CA, San Diego, 05 February 2018 - 09 February 2018, http://dx.doi.org/10.1016/j.ymgme.2017.12.348

Jayasuriya G; Robinson P; Bhattacharya K; Ellaway C; Fitzgerald D; Gustaffson P; Pandit C; Kennedy B; King G; Owens P; Selvadurai H, 2016, 'PERIPHERAL AIRWAY FUNCTION IN CHILDREN WITH LYSOSOMAL STORAGE DISORDERS', in RESPIROLOGY, WILEY-BLACKWELL, pp. 182 - 182, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000373102400408&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Bhattacharya K; Dennison B; Thompson S, 2012, 'DOES HYPERGLYCAEMIA CONTRIBUTE TO CIRRHOSIS IN GLYCOGEN STORAGE DISEASE DUE TO PHKG2 DEFICIENCY?', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S81 - S81, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000307513100280&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Bhattacharya K; Gupta S; Wilcken B; Procopis P; Spector E; Creadon-Swindel G; Aicher J; Thorburn D; Scharer G; Van Hove J, 2012, 'SPASTIC DIPLEGIA IN A NOVEL FORM OF NON-KETOTIC HYPERGLCYCINAEMIA DUE TO GLRX5 DEFICIENCY', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S119 - S119, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000307513100415&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Baker P; Scharer G; Creadon-Swindel G; Aicher J; Shaikh T; Frerman F; Friederich M; Spector E; Cameron J; Robinson B; Bhattacharya K; Thorburn D; Raiman J; Charu D; Lee W-T; Freckmann M-L; Shih L-Y; Wasserstein M; Arranz Arno JA; Riudor E; del Toro M; Scalais E; Van Hove J, 2012, 'Defects in lipoate synthesis cause variant non-ketotic hyperglycinemia', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, NC, Charlotte, pp. 289 - 290, presented at 35th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), NC, Charlotte, 31 March 2012 - 03 April 2012, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000301906400022&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Mundy H; Smith F; Cullup T; Bhattacharya K; Rahman Y; Vara R; Champion M; Deshpande C, 2011, 'NEXT GENERATION SEQUENCING (NGS) FOR GLYCOGEN STORAGE DISEASES (GSDS) THE FIRST UKGTN APPROVED NGS DIAGNOSTIC STRATEGY', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S173 - S173, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000309837800343&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Thompson SM; Yip Q; Dennison B; Watson P; Coakley J; Alexander I; Bhattacharya K; Ellaway C; Christodoulou J, 2011, 'NUTRITIONAL ASSESSMENT OF PATIENTS WITH METABOLIC DISORDERS', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S240 - S240, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000309837800560&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Thompson SM; Dalkeith T; Bhattacharya K; Ellaway C; Christodoulou J, 2011, 'SIMPLIFYING THE KETOGENIC DIET EXPERIENCE IN PYRUVATE DEHYDROGENASE COMPLEX DEFICIENCY', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S246 - S246, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000309837800579&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Bhattacharya K; Fisk K; Bennetts B, 2011, 'TWO DE NOVO MUTATIONS AT THE SAME NUCLEOTIDE IN THE OTC GENE OF A MALE', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S91 - S91, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000309837800055&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Dalkeith T; Dennison B; Wilcken B; Ellaway C; Thompson S; Carpenter K; Bhattacharya K, 2010, 'DIFFICULTIES IN THE DIETETIC MANAGEMENT OF PATIENTS WITH EARLY CHILDHOOD ONSET: MULTIPLE ACYL CO-A DEHYDROGENASE DEFICIENCY (MADD)', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S173 - S173, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000281735000562&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Carpenter K; Bhattacharya K; Ellaway C; Zschocke J; Pitt JJ, 2010, 'IMPROVED SENSITIVITY FOR HMG CoA SYNTHASE DETECTION USING KEY MARKERS ON ORGANIC ACID SCREEN', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S62 - S62, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000281735000162&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Bhattacharya K; Ho G; Dalkeith T; Dennison I; Thompson S; Christodoulou J, 2010, 'IMPROVEMENT IN SEVERE HMG CO-LYASE DEFICIENCY WITH FAT RESTRICTION AND 3-HYDROXYBUTYRATE THERAPY', in JOURNAL OF INHERITED METABOLIC DISEASE, SPRINGER, pp. S62 - S62, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000281735000161&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Thompson SM; Dennison B; Wiley V; Carpenter K; Wilcken B; Bhattacharya K; Alexander I; Ellaway C; Christodoulou J, 2009, 'DIETETIC ISSUES IN THE MANAGEMENT OF MEDIUM CHAIN ACYL COA DEHYDROGENASE DEFICIENCY DIAGNOSED BY NEWBORN SCREENING', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. 117 - 117, presented at 11th International Conference of Inborn Errors of Metabolism, CA, San Diego, 29 August 2009 - 02 September 2009, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000268942600492&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Dalkeith T; Bhattacharya K; Holmes-Walker J; Christodoulou J; Wilcken B, 2009, 'ISSUES FOR THE INTEGRATED CARE OF CHILDREN AND ADULTS WITH INBORN ERRORS OF METABOLISM', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. 132 - 133, presented at 11th International Conference of Inborn Errors of Metabolism, CA, San Diego, 29 August 2009 - 02 September 2009, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000268942600562&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Bhattacharya K; Wiley V; Roy B; Ellaway CJ; Alexander I; Dennison B; Thompson S; Christodoulou J; Carpenter KH; Wileken B, 2009, 'NEWBORN SCREENING FOR MAPLE SYRUP URINE DISEASE (MSUD) BY TANDEM MASS SPECTROMETRY: OUTCOME', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, CA, San Diego, pp. 109 - 110, presented at 11th International Conference of Inborn Errors of Metabolism, CA, San Diego, 29 August 2009 - 02 September 2009, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000268942600462&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

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