K
Kaustuv Bhattacharya
Researcher at University of Sydney
Publications - 50
Citations - 973
Kaustuv Bhattacharya is an academic researcher from University of Sydney. The author has contributed to research in topics: Medicine & Enzyme replacement therapy. The author has an hindex of 14, co-authored 39 publications receiving 706 citations. Previous affiliations of Kaustuv Bhattacharya include Children's Hospital at Westmead & Boston Children's Hospital.
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Journal ArticleDOI
Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Peter R. Baker,Marisa W. Friederich,Michael A. Swanson,Tamim H. Shaikh,Kaustuv Bhattacharya,Gunter Scharer,Joseph K. Aicher,Geralyn Creadon-Swindell,Elizabeth A. Geiger,Kenneth N. Maclean,Wang-Tso Lee,Charu Deshpande,Mary Louise Freckmann,Ling Yu Shih,Melissa P. Wasserstein,Malene B. Rasmussen,Allan M. Lund,Peter Procopis,Jessie M. Cameron,Brian H. Robinson,Garry K. Brown,Ruth M. Brown,Alison G. Compton,Carol L. Dieckmann,Renata Collard,Curtis R. Coughlin,Elaine B. Spector,Michael F. Wempe,Johan L.K. Van Hove +28 more
TL;DR: The recognition of variant nonketotic hyperglycinemia is important for physicians evaluating patients with abnormalities in glycine as this will affect the genetic causation and genetic counselling, and provide prognostic information on the expected phenotypic course.
Journal ArticleDOI
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
Adriana M. Montaño,Ngu Lock-Hock,Robert D. Steiner,Brett H. Graham,Marina Szlago,Robert M. Greenstein,Mercedes Pineda,Antonio González-Meneses,Mahmut Çoker,Dennis Bartholomew,Mark S. Sands,Raymond Y. Wang,Roberto Giugliani,Alfons Macaya,Gregory M. Pastores,Anastasia K. Ketko,Fatih Süheyl Ezgü,Akemi Tanaka,Laila Arash,Michael Beck,Rena E. Falk,Kaustuv Bhattacharya,José Francisco da Silva Franco,Klane K. White,Grant A. Mitchell,Loreta Cimbalistiene,Max Holtz,William S. Sly +27 more
TL;DR: MPS VII is a pan-ethnic inherited lysosomal storage disease with considerable phenotypical heterogeneity and most patients have short stature, skeletal dysplasia, hepatosplenomegaly, hernias, cardiac involvement, pulmonary insufficiency and cognitive impairment.
Journal ArticleDOI
Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype.
Eline Blommaert,Romain Péanne,Natalia A. Cherepanova,Daisy Rymen,Frederik Staels,Jaak Jaeken,Valerie Race,Liesbeth Keldermans,Erika Souche,Anniek Corveleyn,Rebecca Sparkes,Kaustuv Bhattacharya,Christine Devalck,Rik Schrijvers,François Foulquier,Reid Gilmore,Gert Matthijs +16 more
TL;DR: It is demonstrated that MAGT1-deficient patients have a defect in glycosylation, and a different phenotype for the disorder is described, confirming the presumed role ofMAGT1 as a subunit of the OST.
Journal ArticleDOI
Expanded newborn screening in New South Wales: missed cases
Jane Estrella,Bridget Wilcken,Bridget Wilcken,Kevin Carpenter,Kevin Carpenter,Kaustuv Bhattacharya,Michel Tchan,Michel Tchan,Veronica Wiley,Veronica Wiley +9 more
TL;DR: Most of the missed cases are doing well and with no acute presentations although eight of 15 are likely to have been somewhat adversely affected by a late diagnosis, and avoid harm from screening.
Journal ArticleDOI
CRIM-negative infantile Pompe disease: Characterization of immune responses in patients treated with ERT monotherapy
Kathryn L. Berrier,Zoheb B. Kazi,Sean N. Prater,Deeksha Bali,Jennifer L. Goldstein,Mihaela Stefanescu,Catherine Rehder,Eleanor G. Botha,Carolyn Ellaway,Kaustuv Bhattacharya,Anna Tylki-Szymańska,Nesrin Karabul,Amy S. Rosenburg,Priya S. Kishnani +13 more
TL;DR: Immunological responses are a significant risk in CN IPD; thus induction of immune tolerance in the naive setting should strongly be considered.