By Associate Professor Kaustuv Bhattacharya

Journal articles

Blommaert E; Péanne R; Cherepanova NA; Rymen D; Staels F; Jaeken J; Race V; Keldermans L; Souche E; Corveleyn A; Sparkes R; Bhattacharya K; Devalck C; Schrijvers R; Foulquier F; Gilmore R; Matthijs G, 2019, 'Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype', Proceedings of the National Academy of Sciences of the United States of America, 116, pp. 9865 - 9870, http://dx.doi.org/10.1073/pnas.1817815116

Muntau AC; Adams DJ; Bélanger-Quintana A; Bushueva TV; Cerone R; Chien YH; Chiesa A; Coşkun T; de las Heras J; Feillet F; Katz R; Lagler F; Piazzon F; Rohr F; van Spronsen FJ; Vargas P; Wilcox G; Bhattacharya K, 2019, 'International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria', Molecular Genetics and Metabolism, 127, pp. 1 - 11, http://dx.doi.org/10.1016/j.ymgme.2019.04.004

Owens P; Wong M; Bhattacharya K; Ellaway C, 2018, 'Infantile-onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response', Journal of Paediatrics and Child Health, 54, pp. 1255 - 1261, http://dx.doi.org/10.1111/jpc.14070

Nafisinia M; Riley LG; Gold WA; Bhattacharya K; Broderick CR; Thorburn DR; Simons C; Christodoulou J, 2017, 'Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction', Plos One, 12, pp. e0178125, http://dx.doi.org/10.1371/journal.pone.0178125

Schrover R; Evans K; Giugliani R; Noble I; Bhattacharya K, 2017, 'Minimal clinically important difference for the 6-min walk test: Literature review and application to Morquio A syndrome', Orphanet Journal of Rare Diseases, 12, http://dx.doi.org/10.1186/s13023-017-0633-1

Korula S; Owens P; Charlton A; Bhattacharya K, 2017, 'Rare case of hepatic gaucheroma in a child on enzyme replacement therapy', , 32, pp. 101 - 104, http://dx.doi.org/10.1007/8904_2016_562

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

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; 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

Bhattacharya K, 2015, 'Investigation and management of the hepatic glycogen storage diseases', Translational Pediatrics, 4, pp. 24048 - 24248, http://dx.doi.org/10.3978/j.issn.2224-4336.2015.04.07

Bhattacharya K, 2015, 'Where will genetic research take us?', Translational Pediatrics, 4, pp. 31819 - 31319, http://dx.doi.org/10.3978/j.issn.2224-4336.2015.10.09

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; 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

Bhattacharya K; Wotton T; Wiley V, 2014, 'The evolution of blood-spot newborn screening', Translational Pediatrics, 3, pp. 630 - 670, http://dx.doi.org/10.3978/j.issn.2224-4336.2014.03.08

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, 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

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