Select Publications

Journal articles

Menezes MP; Rahman S; Bhattacharya K; Clark D; Christodoulou J; Ellaway C; Farrar M; Pitt M; Sampaio H; Ware TL; Wedatilake Y; Thorburn DR; Ryan MM; Ouvrier R, 2016, 'Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease', Mitochondrion, 30, pp. 162 - 167, http://dx.doi.org/10.1016/j.mito.2016.07.014

Montaño AM; Lock-Hock N; Steiner RD; Graham BH; Szlago M; Greenstein R; Pineda M; Gonzalez-Meneses A; çoker M; Bartholomew D; Sands MS; Wang R; Giugliani R; Macaya A; Pastores G; Ketko AK; Ezgü F; Tanaka A; Arash L; Beck M; Falk RE; Bhattacharya K; Franco J; White KK; Mitchell GA; Cimbalistiene L; Holtz M; Sly WS, 2016, 'Clinical course of sly syndrome (mucopolysaccharidosis type VII)', Journal of Medical Genetics, 53, pp. 403 - 418, http://dx.doi.org/10.1136/jmedgenet-2015-103322

Bhattacharya K; Pontin J; Thompson S, 2016, 'Dietary management of the ketogenic glycogen storage diseases', Journal of Inborn Errors of Metabolism and Screening, 4, http://dx.doi.org/10.1177/2326409816661359

Berrier KL; Kazi ZB; Prater SN; Bali DS; Goldstein J; Stefanescu MC; Rehder CW; Botha EG; Ellaway C; Bhattacharya K; Tylki-Szymanska A; Karabul N; Rosenburg AS; Kishnani PS, 2015, 'CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy', Genetics in Medicine, 17, pp. 912 - 918, http://dx.doi.org/10.1038/gim.2015.6

Bhattacharya K, 2015, 'Where will genetic research take us?', TRANSLATIONAL PEDIATRICS, 4, pp. 318 - 319, http://dx.doi.org/10.3978/j.issn.2224-4336.2015.10.09

Berrier KL; Kazi ZB; Prater SN; Bali DS; Goldstein J; Stefanescu MC; Rehder CW; Botha EG; Ellaway C; Bhattacharya K; Tylki-Szymanska A; Karabul N; Rosenberg AS; Kishnani PS, 2015, 'Erratum: CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy(Genetics in Medicine(2015)17:7)', Genetics in Medicine, 17, pp. 596, http://dx.doi.org/10.1038/gim.2015.57

Bhattacharya K, 2015, 'Investigation and management of the hepatic glycogen storage diseases', TRANSLATIONAL PEDIATRICS, 4, pp. 240 - 248, http://dx.doi.org/10.3978/j.issn.2224-4336.2015.04.07

Bhattacharya K; Mundy H; Lilburn MF; Champion MP; Morley DW; Maillot F, 2015, 'A pilot longitudinal study of the use of waxy maize heat modified starch in the treatment of adults with glycogen storage disease type I: A randomized double-blind cross-over study', Orphanet Journal of Rare Diseases, 10, http://dx.doi.org/10.1186/s13023-015-0229-6

Choy YS; Bhattacharya K; Balasubramaniam S; Fietz M; Fu A; Inwood A; Jin DK; Kim OH; Kosuga M; Kwun YH; Lin HY; Lin SP; Mendelsohn NJ; Okuyama T; Samion H; Tan A; Tanaka A; Thamkunanon V; Thong MK; Toh TH; Yang AD; McGill J, 2015, 'Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)', Molecular Genetics and Metabolism, 115, pp. 41 - 47, http://dx.doi.org/10.1016/j.ymgme.2015.03.005

Estrella J; Wilcken B; Carpenter K; Bhattacharya K; Tchan M; Wiley V, 2014, 'Expanded newborn screening in New South Wales: missed cases', Journal of Inherited Metabolic Disease, 37, pp. 881 - 887, http://dx.doi.org/10.1007/s10545-014-9727-2

Bhattacharya K; Wotton T; Wiley V, 2014, 'The evolution of blood-spot newborn screening', TRANSLATIONAL PEDIATRICS, 3, pp. 63 - 70, http://dx.doi.org/10.3978/j.issn.2224-4336.2014.03.08

Bhattacharya K; Balasubramaniam S; Choy YSI; Fietz M; Fu A; Jin DKY; Kim OH; Kosuga M; Kwun YHE; Inwood A; Lin HY; McGill J; Mendelsohn NJ; Okuyama T; Samion H; Tan A; Tanaka A; Thamkunanon V; Toh TH; Yang AD; Lin SP, 2014, 'Overcoming the barriers to diagnosis of Morquio A syndrome', Orphanet Journal of Rare Diseases, 9, pp. 192, http://dx.doi.org/10.1186/s13023-014-0192-7

Baker PR; Friederich MW; Swanson MA; Shaikh T; Bhattacharya K; Scharer GH; Aicher J; Creadon-Swindell G; Geiger E; Maclean KN; Lee WT; Deshpande C; Freckmann ML; Shih LY; Wasserstein M; Rasmussen MB; Lund AM; Procopis P; Cameron JM; Robinson BH; Brown GK; Brown RM; Compton AG; Dieckmann CL; Collard R; Coughlin CR; Spector E; Wempe MF; Van Hove JLK, 2014, 'Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5', Brain, 137, pp. 366 - 379, http://dx.doi.org/10.1093/brain/awt328

Coman D; Bhattacharya K, 2012, 'Extended newborn screening: An update for the general paediatrician', Journal of Paediatrics and Child Health, 48, pp. E68 - E72, http://dx.doi.org/10.1111/j.1440-1754.2011.02199.x

Bhattacharya K, 2011, 'Dietary dilemmas in the management of glycogen storage disease type I', Journal of Inherited Metabolic Disease, 34, pp. 621 - 629, http://dx.doi.org/10.1007/s10545-011-9322-8

Maillot F; Bhattacharya K; Lilburn M; Morley D; Lee P, 2011, 'Effet d’un amidon de maïs modifié sur la tolérance au jeûne des patients adultes atteints de glycogénose de type 1', La Revue de Médecine Interne, 32, pp. S146 - S146, http://dx.doi.org/10.1016/j.revmed.2011.03.237

Shanti B; Silink M; Bhattacharya K; Howard NJ; Carpenter K; Fietz M; Clayton P; Christodoulou J, 2009, 'Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiency', Journal of Inherited Metabolic Disease, 32, pp. S241 - S251, http://dx.doi.org/10.1007/s10545-009-1180-2

Correia CE; Bhattacharya K; Lee PJ; Shuster JJ; Theriaque DW; Shankar MN; Smit GPA; Weinstein DA, 2008, 'Use of modified cornstarch therapy to extend fasting in glycogen storage disease types Ia and Ib', American Journal of Clinical Nutrition, 88, pp. 1272 - 1276, http://dx.doi.org/10.3945/ajcn.2008.26352

Bhattacharya K; Orton RC; Qi X; Mundy H; Morley DW; Champion MP; Eaton S; Tester RF; Lee PJ, 2007, 'A novel starch for the treatment of glycogen storage diseases', Journal of Inherited Metabolic Disease, 30, pp. 350 - 357, http://dx.doi.org/10.1007/s10545-007-0479-0

Bhattacharya K; Khalili V; Wiley V; Carpenter K; Wilcken B, 2006, 'Newborn screening may fail to identify intermediate forms of maple syrup urine disease.', Journal of Inherited Metabolic Disease, 29, pp. 586, http://dx.doi.org/10.1007/s10545-006-0366-0

Bhattacharya K; Heaton N; Rela M; Walter JH; Lee PJ, 2004, 'The benefits of liver transplantation in glycogenosis type Ib', Journal of Inherited Metabolic Disease, 27, pp. 539 - 540, http://dx.doi.org/10.1023/B:BOLI.0000037400.49488.20

Bhattacharya K; Rahman S; Leonard J, 2003, 'Diagnosis and management of mitochondrial respiratory chain disorders', Current Paediatrics, 13, pp. 536 - 542, http://dx.doi.org/10.1016/j.cupe.2003.08.006

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

Conference Abstracts

Batten K; Selvanathan A; Stormon M; Thomas G; Preddy J; Bhattacharya K, 2024, 'Dietary management in MPV17-related depletion syndrome pre- and post- liver transplant: A case study', in MOLECULAR GENETICS AND METABOLISM, ACADEMIC PRESS INC ELSEVIER SCIENCE, NC, Charlotte, Vol. 141, presented at 45th Annual Meeting of the Society-for-Inherited-Metabolic-Disorders (SIMD), NC, Charlotte, 14 April 2024 - 17 April 2024, http://dx.doi.org/10.1016/j.ymgme.2024.108207

Riley LG; Cowley MJ; Gayevskiy V; Roscioli T; Balasubramaniam S; Thorburn DR; Bahlo M; Sue CM; Coman D; Kava M; Bhattacharya K; Ellaway CJ; Christodoulou J, 2018, 'Next generation sequencing (NGS) for mitochondrial respiratory chain disorders (MRCD): new genes, cautionary tales and lessons learnt', in EUROPEAN JOURNAL OF HUMAN GENETICS, NATURE PUBLISHING GROUP, ITALY, Milan, Vol. 27, pp. 198 - 199, presented at 51st Conference of the European-Society-of-Human-Genetics (ESHG) in conjunction with the European Meeting on Psychosocial Aspects of Genetics (EMPAG), ITALY, Milan, 16 June 2018 - 19 June 2018, https://www.webofscience.com/api/gateway?GWVersion=2&SrcApp=PARTNER_APP&SrcAuth=LinksAMR&KeyUT=WOS:000489313101187&DestLinkType=FullRecord&DestApp=ALL_WOS&UsrCustomerID=891bb5ab6ba270e68a29b250adbe88d1

Preprints

Rius R; Compton AG; Baker NL; Balasubramaniam S; Best S; Bhattacharya K; Boggs K; Boughtwood T; Braithwaite J; Bratkovic D; Bray A; Brion M-J; Burke J; Casauria S; Chong B; Coman D; Cowie S; Cowley M; de Silva MG; Delatycki MB; Edwards S; Ellaway C; Fahey MC; Finlay K; Fletcher J; Frajman LE; Frazier AE; Gayevskiy V; Ghaoui R; Goel H; Goranitis I; Haas M; Hock DH; Howting D; Jackson MR; Kava MP; Kemp M; King-Smith S; Lake NJ; Lamont PJ; Lee J; Long JC; MacShane M; Madelli EO; Martin EM; Marum JE; Mattiske T; McGill J; Metke A; Murray S; Panetta J; Phillips LK; Quinn MCJ; Ryan MT; Schenscher S; Simons C; Smith N; Stroud DA; Tchan MC; Tom M; Wallis M; Ware TL; Welch AE; Wools C; Wu Y; Christodoulou J; Thorburn DR, 2023, The Australian Genomics Mitochondrial Flagship: A National Program Delivering Mitochondrial Diagnoses, http://dx.doi.org/10.1101/2023.11.08.23298009

Nevin S; McGill B; Kelada L; Hilton G; Donnell M; Elvidge K; Farrar M; Baynam G; Katz N; Donovan L; Grattan S; Signorelli C; Bhattacharya K; Nunn K; Wakefield C, 2023, ‘The psychosocial impact of childhood dementia on children and their parents: A systematic review’, http://dx.doi.org/10.21203/rs.3.rs-2282768/v1

Sankaran BP; Gupta S; Tchan M; Devanapalli B; Rahman Y; Procopis P; Bhattacharya K, 2021, GLRX5-associated [Fe-S] Cluster Biogenesis Disorder: Further Characterisation of the Neurological Phenotype and Long-term Outcome., http://dx.doi.org/10.21203/rs.3.rs-614803/v1


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