Bhattacharya K - Search Results

1

The Molecular Bases of Phenylketonuria (PKU) in New South Wales, Australia: Mutation Profile and Correlation with Tetrahydrobiopterin (BH4) Responsiveness.

Ho G, Alexander I, Bhattacharya K, Dennison B, Ellaway C, Thompson S, Wilcken B, Christodoulou J. Ho G, et al. Among authors: bhattacharya k. JIMD Rep. 2014;14:55-65. doi: 10.1007/8904_2013_284. Epub 2013 Dec 25. JIMD Rep. 2014. PMID: 24368688 Free PMC article.

2

Newborn screening may fail to identify intermediate forms of maple syrup urine disease.

Bhattacharya K, Khalili V, Wiley V, Carpenter K, Wilcken B. Bhattacharya K, et al. J Inherit Metab Dis. 2006 Aug;29(4):586. doi: 10.1007/s10545-006-0366-0. Epub 2006 Jul 8. J Inherit Metab Dis. 2006. PMID: 16830261

3

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.

Shanti B, Silink M, Bhattacharya K, Howard NJ, Carpenter K, Fietz M, Clayton P, Christodoulou J. Shanti B, et al. Among authors: bhattacharya k. J Inherit Metab Dis. 2009 Dec;32 Suppl 1:S241-51. doi: 10.1007/s10545-009-1180-2. Epub 2009 Apr 27. J Inherit Metab Dis. 2009. PMID: 19396570

4

Expanded newborn screening in New South Wales: missed cases.

Estrella J, Wilcken B, Carpenter K, Bhattacharya K, Tchan M, Wiley V. Estrella J, et al. Among authors: bhattacharya k. J Inherit Metab Dis. 2014 Nov;37(6):881-7. doi: 10.1007/s10545-014-9727-2. Epub 2014 Jun 27. J Inherit Metab Dis. 2014. PMID: 24970580

5

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.

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. Berrier KL, et al. Among authors: bhattacharya k. Genet Med. 2015 Nov;17(11):912-8. doi: 10.1038/gim.2015.6. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741864 Free PMC article.

6

Rare Case of Hepatic Gaucheroma in a Child on Enzyme Replacement Therapy.

Korula S, Owens P, Charlton A, Bhattacharya K. Korula S, et al. Among authors: bhattacharya k. JIMD Rep. 2017;32:101-104. doi: 10.1007/8904_2016_562. Epub 2016 Jun 23. JIMD Rep. 2017. PMID: 27334896 Free PMC article.

7

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.

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. Menezes MP, et al. Among authors: bhattacharya k. Mitochondrion. 2016 Sep;30:162-7. doi: 10.1016/j.mito.2016.07.014. Epub 2016 Jul 27. Mitochondrion. 2016. PMID: 27475922

8

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

Nafisinia M, Riley LG, Gold WA, Bhattacharya K, Broderick CR, Thorburn DR, Simons C, Christodoulou J. Nafisinia M, et al. Among authors: bhattacharya k. PLoS One. 2017 Jun 8;12(6):e0178125. doi: 10.1371/journal.pone.0178125. eCollection 2017. PLoS One. 2017. PMID: 28594869 Free PMC article.

9

Effectiveness of Early Hematopoietic Stem Cell Transplantation in Preventing Neurocognitive Decline in Mucopolysaccharidosis Type II: A Case Series.

Selvanathan A, Ellaway C, Wilson C, Owens P, Shaw PJ, Bhattacharya K. Selvanathan A, et al. Among authors: bhattacharya k. JIMD Rep. 2018;41:81-89. doi: 10.1007/8904_2018_104. Epub 2018 Apr 19. JIMD Rep. 2018. PMID: 29671225 Free PMC article.

10

Infantile-onset Pompe disease: A case series highlighting early clinical features, spectrum of disease severity and treatment response.

Owens P, Wong M, Bhattacharya K, Ellaway C. Owens P, et al. Among authors: bhattacharya k. J Paediatr Child Health. 2018 Nov;54(11):1255-1261. doi: 10.1111/jpc.14070. Epub 2018 Jun 11. J Paediatr Child Health. 2018. PMID: 29889338

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