Bhattacharya K - Search Results

1

Minimal clinically important difference for the 6-min walk test: literature review and application to Morquio A syndrome.

Schrover R, Evans K, Giugliani R, Noble I, Bhattacharya K. Schrover R, et al. Among authors: bhattacharya k. Orphanet J Rare Dis. 2017 Apr 26;12(1):78. doi: 10.1186/s13023-017-0633-1. Orphanet J Rare Dis. 2017. PMID: 28441951 Free PMC article. Review.

2

Overcoming the barriers to diagnosis of Morquio A syndrome.

Bhattacharya K, Balasubramaniam S, Choy YS, Fietz M, Fu A, Jin DK, Kim OH, Kosuga M, Kwun YH, Inwood A, Lin HY, McGill J, Mendelsohn NJ, Okuyama T, Samion H, Tan A, Tanaka A, Thamkunanon V, Toh TH, Yang AD, Lin SP. Bhattacharya K, et al. Orphanet J Rare Dis. 2014 Nov 30;9:192. doi: 10.1186/s13023-014-0192-7. Orphanet J Rare Dis. 2014. PMID: 25433535 Free PMC article.

3

Clinical course of sly syndrome (mucopolysaccharidosis type VII).

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. Montaño AM, et al. Among authors: bhattacharya k. J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23. J Med Genet. 2016. PMID: 26908836 Free PMC article.

4

The use of sodium DL-3-Hydroxybutyrate in severe acute neuro-metabolic compromise in patients with inherited ketone body synthetic disorders.

Bhattacharya K, Matar W, Tolun AA, Devanapalli B, Thompson S, Dalkeith T, Lichkus K, Tchan M. Bhattacharya K, et al. Orphanet J Rare Dis. 2020 Feb 18;15(1):53. doi: 10.1186/s13023-020-1316-x. Orphanet J Rare Dis. 2020. PMID: 32070364 Free PMC article.

5

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

Sankaran BP, Gupta S, Tchan M, Devanapalli B, Rahman Y, Procopis P, Bhattacharya K. Sankaran BP, et al. Among authors: bhattacharya k. Orphanet J Rare Dis. 2021 Nov 3;16(1):465. doi: 10.1186/s13023-021-02073-z. Orphanet J Rare Dis. 2021. PMID: 34732213 Free PMC article.

6

The psychosocial impact of childhood dementia on children and their parents: a systematic review.

Nevin SM, McGill BC, Kelada L, Hilton G, Maack M, Elvidge KL, Farrar MA, Baynam G, Katz NT, Donovan L, Grattan S, Signorelli C, Bhattacharya K, Nunn K, Wakefield CE. Nevin SM, et al. Among authors: bhattacharya k. Orphanet J Rare Dis. 2023 Sep 7;18(1):277. doi: 10.1186/s13023-023-02859-3. Orphanet J Rare Dis. 2023. PMID: 37679855 Free PMC article.

7

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.

Bhattacharya K, Mundy H, Lilburn MF, Champion MP, Morley DW, Maillot F. Bhattacharya K, et al. Orphanet J Rare Dis. 2015 Feb 15;10:18. doi: 10.1186/s13023-015-0229-6. Orphanet J Rare Dis. 2015. PMID: 25758258 Free PMC article. Clinical Trial.

8

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

9

Investigation and management of the hepatic glycogen storage diseases.

Bhattacharya K. Bhattacharya K. Transl Pediatr. 2015 Jul;4(3):240-8. doi: 10.3978/j.issn.2224-4336.2015.04.07. Transl Pediatr. 2015. PMID: 26835382 Free PMC article. Review.

10

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.

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