Browsing by Author Bhattacharya, Kaustuv

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Showing results 1 to 14 of 14
Issue DateTitleAuthor(s)Citation
2016Clinical course of sly syndrome (mucopolysaccharidosis type VII)Bhattacharya, Kaustuv; Coker, Mahmut; et al, Various; Gonzalez-Meneses, Antonio; Graham, Brett H; Greenstein, Robert; Lock-Hock, Ngu; Montano, Adriana; Pineda, M; Steiner, Robert D; Szlago, Marina; Childrens Hospital Westmead: Paediatrics & Child HealthClinical course of sly syndrome (mucopolysaccharidosis type VII), Journal of Medical Genetics, vol.53, 6, 2016,pp 403-418
2017Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunctionBhattacharya, Kaustuv; Christodoulou, John; Gold, Wendy; Nafisinia, Michael; Riley, Lisa; Broderick, Carolyn; Simons, Cas; Thorburn, David; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCompound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction, PloS One, vol.12, 6, 2017,pp 1-12
2009Congenital disorder of glycosylation type Ia: Heterogeneity in the clinical presentation from multivisceral failure to hyperinsulinaemic hypoglycaemia as leading symptoms in three infants with phosphomannomutase deficiencyBhattacharya, Kaustuv; Carpenter, Kevin; Christodoulou, John; Silink, Martin; Clayton, P.; Fietz, M.; Howard, Neville J.; Shanti, B.; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Children's Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Paediatrics & Child HealthCongenital 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 (JIMD), vol.Short Report #166 - online,(N/A),2009,pp 1-11
2015CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapyBhattacharya, Kaustuv; Ellaway, Carolyn; Bali, Deeksha S; Berrier, Kathryn L; Botha, Eleanor G; et al, Various; Goldstein, Jennifer; Kazi, Zoheb B; Prater, Sean N; Rehder, Catherine W; Stefanescu, Mihaela C; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthCRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy, Genetics in Medicine, vol.17, 11, 2015,pp 912-918
2011Dietary dilemmas in the management of glycogen storage disease type IBhattacharya, Kaustuv; Children's Hospital Westmead: Paediatrics & Child HealthDietary dilemmas in the management of glycogen storage disease type I, Journal of Inherited Metabolic Disease (JIMD), vol.34, 3, 2011,pp 621-629
2014Expanded newborn screening in New South Wales: missed casesBhattacharya, Kaustuv; Carpenter, Kevin; Tchan, Michel; Wilcken, Bridget; Wiley, Veronica; Estrella, Jane; Childrens Hospital Westmead: Paediatrics & Child Health; Children's Hospital Westmead: Medicine; Western Clinical School: Medicine (Westmead); Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthExpanded newborn screening in New South Wales: missed cases, Journal of Inherited Metabolic Disease (JIMD), vol.37, 6, 2014,pp 881-887
2012Extended newborn screening: An update for the general paediatricianBhattacharya, Kaustuv; Coman, David; Children's Hospital Westmead: Paediatrics & Child HealthExtended newborn screening: An update for the general paediatrician, Journal of Paediatrics and Child Health, vol.48, 2, 2012,pp E68-E72
2015Identifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI)Bhattacharya, Kaustuv; Balasubramaniam, Shanti; Choy, Yew Sing; et al, Various; Fietz, Michael; Fu, Antony; Inwood, Anita; Jin, Dong-Kyu; Kim, Ok-Hwa; Kosuga, Motomichi; Kwun, Young Hee; Lin, Hsaing-Yu; Childrens Hospital Westmead: Paediatrics & Child HealthIdentifying the need for a multidisciplinary approach for early recognition of mucopolysaccharidosis VI (MPS VI), Molecular Genetics and Metabolism, vol.115, 1, 2015,pp 41-47
2015Investigation and management of the hepatic glycogen storage diseasesBhattacharya, Kaustuv; Childrens Hospital Westmead: Paediatrics & Child HealthInvestigation and management of the hepatic glycogen storage diseases, Translational Pediatrics, vol.4, 3, 2015,pp 240-248
2017Minimal clinically important difference for the 6-min walk test: Literature review and application to Morquio A syndromeBhattacharya, Kaustuv; Evans, Kathryn; Giugliani, Roberto; Noble, Ian; Schrover, R; Childrens Hospital Westmead: Paediatrics & Child HealthMinimal clinically important difference for the 6-min walk test: Literature review and application to Morquio A syndrome, Orphanet Journal of Rare Diseases, vol.12, 1, 2017,pp 1-11
2014The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) ResponsivenessAlexander, Ian; Bhattacharya, Kaustuv; Christodoulou, John; Ellaway, Carolyn; Ho, Gladys; Wilcken, Bridget; Dennison, Barbara; Thompson, Sue; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthThe Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness, JIMD Reports, vol.14, N/A, 2014,pp 55-65
2016Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial diseaseBhattacharya, Kaustuv; Christodoulou, John; Ellaway, Carolyn; Menezes, Manoj; Ouvrier, Robert; Clark, Damian; Farrar, Michelle; Pitt, Matthew; Rahman, Shamima; Ryan, Monique; Sampaio, Hugo; Thorburn, David; Ware, Tyson L; Wedatilake, Yehani; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child Health; Clinical and Rehabilitation Sciences; Childrens Hospital Westmead: Paediatrics & Child HealthNeurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease, Mitochondrion, vol.30, N/A, 2016,pp 162-167
2015A 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 studyBhattacharya, Kaustuv; Champion, Michael; Lilburn, Maggie; Maillot, Francois; Morley, David; Mundy, Helen; Childrens Hospital Westmead: Paediatrics & Child HealthA 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, vol.10, 1, 2015,pp 1-11
2014Variant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5Bhattacharya, Kaustuv; Procopis, Peter; Aicher, Joseph; Baker, Peter; Creadon-Swindell, Geralyn; et al, Various; Friederich, Marisa; Geiger, Elizabeth; Maclean, K N; Scharer, Gunter; Shaikh, Tamim; Swanson, Michael; Childrens Hospital Westmead: Paediatrics & Child Health; Childrens Hospital Westmead: Paediatrics & Child HealthVariant non-ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5, Brain, vol.137, 2, 2014,pp 366-379