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Items: 1 to 20 of 65

1.

Urea Cycle Related Amino Acids Measured in Dried Bloodspots Enable Long-Term In Vivo Monitoring and Therapeutic Adjustment.

Baruteau J, Khalil Y, Grunewald S, Zancolli M, Chakrapani A, Cleary M, Davison J, Footitt E, Waddington SN, Gissen P, Mills P.

Metabolites. 2019 Nov 12;9(11). pii: E275. doi: 10.3390/metabo9110275.

2.

The natural history of infantile mitochondrial DNA depletion syndrome due to RRM2B deficiency.

Keshavan N, Abdenur J, Anderson G, Assouline Z, Barcia G, Bouhikbar L, Chakrapani A, Cleary M, Cohen MC, Feillet F, Fratter C, Hauser N, Jacques T, Lam A, McCullagh H, Phadke R, Rötig A, Sharrard M, Simon M, Smith C, Sommerville EW, Taylor RW, Yue WW, Rahman S.

Genet Med. 2020 Jan;22(1):199-209. doi: 10.1038/s41436-019-0613-z. Epub 2019 Aug 29.

PMID:
31462754
3.

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

Häberle J, Burlina A, Chakrapani A, Dixon M, Karall D, Lindner M, Mandel H, Martinelli D, Pintos-Morell G, Santer R, Skouma A, Servais A, Tal G, Rubio V, Huemer M, Dionisi-Vici C.

J Inherit Metab Dis. 2019 Nov;42(6):1192-1230. doi: 10.1002/jimd.12100. Epub 2019 May 15. Review.

PMID:
30982989
4.

MYD88 and CXCR4 Mutation Profiling in Lymphoplasmacytic Lymphoma/Waldenstrom's Macroglobulinaemia.

Vinarkar S, Arora N, Chowdhury SS, Saha K, Pal B, Parihar M, Radhakrishnan VS, Chakrapani A, Bhartia S, Bhave S, Chandy M, Nair R, Mishra DK.

Indian J Hematol Blood Transfus. 2019 Jan;35(1):57-65. doi: 10.1007/s12288-018-0978-1. Epub 2018 Jul 2.

5.

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases.

Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless SE, Seminara J, Summar M, Hoffmann GF, Kölker S, Burgard P; Additional individual contributors of the UCDC and the E-IMD consortium.

J Inherit Metab Dis. 2019 Jan;42(1):93-106. doi: 10.1002/jimd.12031.

PMID:
30740724
6.

Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories.

Häberle J, Chakrapani A, Ah Mew N, Longo N.

Orphanet J Rare Dis. 2018 Dec 6;13(1):219. doi: 10.1186/s13023-018-0963-7. Review.

7.

Thalamic and dentate nucleus abnormalities in the brain of children with Gaucher disease.

Perucca G, Soares BP, Staglianò S, Davison J, Chakrapani A, D'Arco F.

Neuroradiology. 2018 Dec;60(12):1353-1356. doi: 10.1007/s00234-018-2116-z. Epub 2018 Oct 17.

PMID:
30328501
8.

Management of Lymphomas: Consensus Document 2018 by an Indian Expert Group.

Nair R, Kakroo A, Bapna A, Gogia A, Vora A, Pathak A, Korula A, Chakrapani A, Doval D, Prakash G, Biswas G, Menon H, Bhattacharya M, Chandy M, Parihar M, Vamshi Krishna M, Arora N, Gadhyalpatil N, Malhotra P, Narayanan P, Nair R, Basu R, Shah S, Bhave S, Bondarde S, Bhartiya S, Nityanand S, Gujral S, Tilak TVS, Radhakrishnan V.

Indian J Hematol Blood Transfus. 2018 Jul;34(3):398-421. doi: 10.1007/s12288-018-0991-4. Epub 2018 Aug 3. Review.

9.

Effect of carglumic acid with or without ammonia scavengers on hyperammonaemia in acute decompensation episodes of organic acidurias.

Chakrapani A, Valayannopoulos V, Segarra NG, Del Toro M, Donati MA, García-Cazorla A, González MJ, Plisson C, Giordano V.

Orphanet J Rare Dis. 2018 Jun 20;13(1):97. doi: 10.1186/s13023-018-0840-4.

10.

Markers of cognitive function in individuals with metabolic disease: Morquio syndrome and tyrosinemia type III.

Blundell J, Frisson S, Chakrapani A, Kearney S, Vijay S, MacDonald A, Gissen P, Hendriksz C, Olson A.

Cogn Neuropsychol. 2018 May - Jun;35(3-4):120-147. doi: 10.1080/02643294.2018.1443913.

PMID:
29741470
11.

Cytomegalovirus reactivation and disease amongst patients with allogeneic haematopoietic stem cell transplantation in Eastern India: Epidemiology, outcome and healthcare cost.

Kumar M, Roychowdhury M, Kumar J, Harishankar A, Sinha S, Bhave SJ, Chakrapani A, Radhakrishnan V, Nair R, Bhattacharya S, Chandy M.

Indian J Med Microbiol. 2018 Jan-Mar;36(1):49-53. doi: 10.4103/ijmm.IJMM_17_269.

12.

Retrospective natural history of thymidine kinase 2 deficiency.

Garone C, Taylor RW, Nascimento A, Poulton J, Fratter C, Domínguez-González C, Evans JC, Loos M, Isohanni P, Suomalainen A, Ram D, Hughes MI, McFarland R, Barca E, Lopez Gomez C, Jayawant S, Thomas ND, Manzur AY, Kleinsteuber K, Martin MA, Kerr T, Gorman GS, Sommerville EW, Chinnery PF, Hofer M, Karch C, Ralph J, Cámara Y, Madruga-Garrido M, Domínguez-Carral J, Ortez C, Emperador S, Montoya J, Chakrapani A, Kriger JF, Schoenaker R, Levin B, Thompson JLP, Long Y, Rahman S, Donati MA, DiMauro S, Hirano M.

J Med Genet. 2018 Aug;55(8):515-521. doi: 10.1136/jmedgenet-2017-105012. Epub 2018 Mar 30.

13.

The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study.

MacDonald A, Webster R, Whitlock M, Gerrard A, Daly A, Preece MA, Evans S, Ashmore C, Chakrapani A, Vijay S, Santra S.

J Pediatr Endocrinol Metab. 2018 Mar 28;31(3):297-304. doi: 10.1515/jpem-2017-0426.

PMID:
29425111
14.

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Posset R, Garcia-Cazorla A, Valayannopoulos V, Leão Teles E, Dionisi-Vici C, Brassier A, Burlina AB, Burgard P, Cortès-Saladelafont E, Dobbelaere D, Couce ML, Sykut-Cegielska J, Häberle J, Lund AM, Chakrapani A, Schiff M, Walter JH, Zeman J, Vara R, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul;41(4):743-744. doi: 10.1007/s10545-017-0117-4.

PMID:
29330779
15.

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

Heringer J, Valayannopoulos V, Lund AM, Wijburg FA, Freisinger P, Barić I, Baumgartner MR, Burgard P, Burlina AB, Chapman KA, I Saladelafont EC, Karall D, Mühlhausen C, Riches V, Schiff M, Sykut-Cegielska J, Walter JH, Zeman J, Chabrol B, Kölker S; Additional individual contributors of the E-IMD consortium.

J Inherit Metab Dis. 2018 Jul;41(4):741-742. doi: 10.1007/s10545-017-0116-5.

PMID:
29234995
16.

Oculomotor abnormalities in children with Niemann-Pick type C.

Blundell J, Frisson S, Chakrapani A, Gissen P, Hendriksz C, Vijay S, Olson A.

Mol Genet Metab. 2018 Feb;123(2):159-168. doi: 10.1016/j.ymgme.2017.11.004. Epub 2017 Nov 16.

PMID:
29191430
17.

The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

Hendriksz CJ, Anheim M, Bauer P, Bonnot O, Chakrapani A, Corvol JC, de Koning TJ, Degtyareva A, Dionisi-Vici C, Doss S, Duning T, Giunti P, Iodice R, Johnston T, Kelly D, Klünemann HH, Lorenzl S, Padovani A, Pocovi M, Synofzik M, Terblanche A, Then Bergh F, Topçu M, Tranchant C, Walterfang M, Velten C, Kolb SA.

Curr Med Res Opin. 2017 May;33(5):877-890. doi: 10.1080/03007995.2017.1294054. Epub 2017 Mar 2. Review.

PMID:
28276873
18.

Expanding the phenotype in argininosuccinic aciduria: need for new therapies.

Baruteau J, Jameson E, Morris AA, Chakrapani A, Santra S, Vijay S, Kocadag H, Beesley CE, Grunewald S, Murphy E, Cleary M, Mundy H, Abulhoul L, Broomfield A, Lachmann R, Rahman Y, Robinson PH, MacPherson L, Foster K, Chong WK, Ridout DA, Bounford KM, Waddington SN, Mills PB, Gissen P, Davison JE.

J Inherit Metab Dis. 2017 May;40(3):357-368. doi: 10.1007/s10545-017-0022-x. Epub 2017 Mar 1.

19.

Mixed-phenotypic acute leukemia series from tertiary care center.

Pawar RN, Banerjee S, Bramha S, Krishnan S, Bhattacharya A, Saha V, Chakrapani A, Bhave S, Chandy M, Nair R, Parihar M, Arora N, Mishra DK.

Indian J Pathol Microbiol. 2017 Jan-Mar;60(1):43-49. doi: 10.4103/0377-4929.200057.

20.

NK/T Cell Lymphoma: A Tertiary Centre Experience.

Arora N, Mehta A, Ravichandran S, Arun I, Achari RB, Chakrapani A, Bhave SJ, Chandy M, Nair R.

Indian J Hematol Blood Transfus. 2017 Mar;33(1):69-73. doi: 10.1007/s12288-016-0675-x. Epub 2016 Apr 21.

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