Publications Authored by Anupam Chakrapani

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

Authors:

Sushant Vinarkar Neeraj Arora Sourav Sarma Chowdhury Kallol Saha Biswajoy Pal Mayur Parihar Vivek S Radhakrishnan Anupam Chakrapani Shilpa Bhartia Saurabh Bhave Mammen Chandy Reena Nair Deepak Kumar Mishra

Indian J Hematol Blood Transfus 2019 Jan 2;35(1):57-65. Epub 2018 Jul 2.

1Department of Laboratory Haematology and Molecular Genetics, Tata Medical Center, 14 MAR (EW), New Town, Rajarhat, Kolkata, 700156 India.

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http://dx.doi.org/10.1007/s12288-018-0978-1	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369099	PMC

January 2019

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

Authors:

Giulia Perucca Bruno P Soares Serena Staglianò James Davison Anupam Chakrapani Felice D'Arco

Neuroradiology 2018 Dec 17;60(12):1353-1356. Epub 2018 Oct 17.

Department of Neuroradiology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.

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http://dx.doi.org/10.1007/s00234-018-2116-z	DOI Listing

December 2018

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

Authors:

Johannes Häberle Anupam Chakrapani Nicholas Ah Mew Nicola Longo

Orphanet J Rare Dis 2018 12 6;13(1):219. Epub 2018 Dec 6.

Department of Pediatrics, Division of Medical Genetics, University of Utah School of Medicine, 30 N 1900 E, Salt Lake City, UT, 84132, USA.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0	Publisher Site
http://dx.doi.org/10.1186/s13023-018-0963-7	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282273	PMC

December 2018

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

Authors:

Meet Kumar Mita Roychowdhury Jeevan Kumar Anusha Harishankar Subir Sinha Saurabh Jayant Bhave Anupam Chakrapani Vivek Radhakrishnan Reena Nair Sanjay Bhattacharya Mammen Chandy

Indian J Med Microbiol 2018 Jan-Mar;36(1):49-53

Department of Clinical Hematology, Tata Medical Center, Kolkata, West Bengal, India.

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http://www.ijmm.org/text.asp?2018/36/1/49/231664	Publisher Site
http://dx.doi.org/10.4103/ijmm.IJMM_17_269	DOI Listing

September 2018

Retrospective natural history of thymidine kinase 2 deficiency.

J Med Genet 2018 Aug 30;55(8):515-521. Epub 2018 Mar 30.

Department of Neurology, Columbia University Medical Center, New York City, New York, USA.

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http://dx.doi.org/10.1136/jmedgenet-2017-105012	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073909	PMC

August 2018

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

J Inherit Metab Dis 2018 Jul;41(4):743-744

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0117-4	DOI Listing

July 2018

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

Indian J Hematol Blood Transfus 2018 Jul 3;34(3):398-421. Epub 2018 Aug 3.

1Department of Clinical Hematology, Tata Medical Center (TMC), New Town, Rajarhat, Kolkata, West Bengal 700 160 India.

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http://dx.doi.org/10.1007/s12288-018-0991-4	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6081314	PMC

July 2018

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

Authors:

Anupam Chakrapani Vassili Valayannopoulos Nuria García Segarra Mireia Del Toro Maria Alice Donati Angeles García-Cazorla María Julieta González Celine Plisson Vincenzo Giordano

Orphanet J Rare Dis 2018 06 20;13(1):97. Epub 2018 Jun 20.

Orphan Europe, Paris, France.

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http://dx.doi.org/10.1186/s13023-018-0840-4	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6011521	PMC

June 2018

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

Authors:

James Blundell Steven Frisson Anupam Chakrapani Shauna Kearney Suresh Vijay Anita MacDonald Paul Gissen Chris Hendriksz Andrew Olson

Cogn Neuropsychol 2018 May - Jun;35(3-4):120-147

a School of Psychology , University of Birmingham , Birmingham , UK.

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http://dx.doi.org/10.1080/02643294.2018.1443913	DOI Listing

May 2018

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

Authors:

Anita MacDonald Rachel Webster Matthew Whitlock Adam Gerrard Anne Daly Mary Anne Preece Sharon Evans Catherine Ashmore Anupam Chakrapani Suresh Vijay Saikat Santra

J Pediatr Endocrinol Metab 2018 Mar;31(3):297-304

Birmingham Women's and Children's Hospital NHS Foundation Trust, Birmingham, UK.

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http://dx.doi.org/10.1515/jpem-2017-0426	DOI Listing

March 2018

Oculomotor abnormalities in children with Niemann-Pick type C.

Authors:

James Blundell Steven Frisson Anupam Chakrapani Paul Gissen Chris Hendriksz Suresh Vijay Andrew Olson

Mol Genet Metab 2018 02 16;123(2):159-168. Epub 2017 Nov 16.

The University of Birmingham, School of Psychology, United Kingdom.

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http://dx.doi.org/10.1016/j.ymgme.2017.11.004	DOI Listing

February 2018

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

J Inherit Metab Dis 2017 05 1;40(3):357-368. Epub 2017 Mar 1.

Metabolic Medicine Department, Great Ormond Street Hospital for Children NHS Foundation Trust, Great Ormond Street, WC1N 3JH, London, UK.

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http://dx.doi.org/10.1007/s10545-017-0022-x	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393288	PMC

May 2017

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

Curr Med Res Opin 2017 May 2;33(5):877-890. Epub 2017 Mar 2.

ac Actelion Pharmaceuticals Ltd , Allschwil , Switzerland.

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http://dx.doi.org/10.1080/03007995.2017.1294054	DOI Listing

May 2017

NK/T Cell Lymphoma: A Tertiary Centre Experience.

Authors:

Neeraj Arora Arpan Mehta Sriram Ravichandran Indu Arun Rimpa Basu Achari Anupam Chakrapani Saurabh Jayant Bhave Mammen Chandy Reena Nair

Indian J Hematol Blood Transfus 2017 Mar 21;33(1):69-73. Epub 2016 Apr 21.

Department of Clinical Haematology, Tata Medical Center, Kolkata, India.

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http://dx.doi.org/10.1007/s12288-016-0675-x	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5280857	PMC

March 2017

Mixed-phenotypic acute leukemia series from tertiary care center.

Authors:

Ravikiran N Pawar Sambhunath Banerjee Subhajit Bramha Shekhar Krishnan Arpita Bhattacharya Vaskar Saha Anupam Chakrapani Saurabh Bhave Mammen Chandy Reena Nair Mayur Parihar Neeraj Arora D K Mishra

Indian J Pathol Microbiol 2017 Jan-Mar;60(1):43-49

Department of Laboratory Haematology and Molecular Genetics, Tata Medical Centre, Kolkata, West Bengal, India.

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http://dx.doi.org/10.4103/0377-4929.200057	DOI Listing

March 2017

Guidelines for the diagnosis and management of cystathionine beta-synthase deficiency.

J Inherit Metab Dis 2017 01 24;40(1):49-74. Epub 2016 Oct 24.

Division of Genetic and Metabolism, Children's National Health System, Washington, DC, USA.

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http://dx.doi.org/10.1007/s10545-016-9979-0	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5203861	PMC

January 2017

The clinical, biochemical and genetic features associated with -related mitochondrial disease.

J Med Genet 2016 Nov 13;53(11):768-775. Epub 2016 Jul 13.

Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University, Newcastle upon Tyne, UK.

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http://dx.doi.org/10.1136/jmedgenet-2016-103910	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5264221	PMC

November 2016

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

J Inherit Metab Dis 2016 09 22;39(5):661-672. Epub 2016 Apr 22.

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://doi.wiley.com/10.1007/s10545-016-9938-9	Publisher Site
http://dx.doi.org/10.1007/s10545-016-9938-9	DOI Listing

September 2016

Systemic Mastocytosis with Associated Clonal Hematological Non-Mast Cell Lineage Disorder (MDS-RCMD): A Difficult Disease to Diagnose and Treat.

Authors:

Sriram Ravichandran Rohith G Chitrapur Saurabh Bhave Anupam Chakrapani Reena Nair Mammen Chandy

Indian J Hematol Blood Transfus 2016 Jun 22;32(Suppl 1):108-11. Epub 2015 Sep 22.

Department of Clinical Haematology, Tata Medical Center, Kolkata, 700156 India.

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http://link.springer.com/10.1007/s12288-015-0594-2	Publisher Site
http://dx.doi.org/10.1007/s12288-015-0594-2	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925525	PMC

June 2016

Resolution of Serologic Problems Due to Cold Agglutinins in Chronic Lymphocytic Leukemia.

Authors:

Rizwan Javed Suvro Sankha Datta Sabita Basu Anupam Chakrapani

Indian J Hematol Blood Transfus 2016 Jun 20;32(Suppl 1):290-3. Epub 2016 Jan 20.

Department of Clinical Hematology, TATA Medical Center, Kolkata, India.

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http://dx.doi.org/10.1007/s12288-016-0644-4	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925551	PMC

June 2016

Low Incidence of Central Venous Catheter-Related Bloodstream Infections in Stem Cell Transplant Patients in Eastern India Despite High Community Burden of Multidrug-Resistant Pathogens.

Authors:

Mita Roychowdhury Jeevan Kumar Anupam Chakrapani Saurabh Jayant Bhave Shekhar Krishnan Robin Thambudorai Sanjay Bhattacharya Mammen Chandy

Infect Control Hosp Epidemiol 2016 May 9;37(5):619-20. Epub 2016 Feb 9.

2Department of Clinical Hematology,Tata Medical Center,Kolkata,India.

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http://dx.doi.org/10.1017/ice.2016.18	DOI Listing

May 2016

Follicular lymphoma evolving into diffuse large B-cell lymphoma with Reed-Sternberg like cells.

Authors:

Sankalp Sancheti Neeraj Arora Satyakam Sawaimoon Anupam Chakrapani

Indian J Pathol Microbiol 2015 Apr-Jun;58(2):261-2

Department of Laboratory Haematology and Molecular Genetics, TATA Medical Center, Kolkata, West Bengal, India.

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http://dx.doi.org/10.4103/0377-4929.155354	DOI Listing

April 2016

Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study.

Orphanet J Rare Dis 2016 Mar 31;11:32. Epub 2016 Mar 31.

Reference Center for Metabolic Diseases, Pediatric Neurology & Metabolic diseases, Robert Debre University Hospital, Paris, France.

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http://dx.doi.org/10.1186/s13023-016-0406-2	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4815113	PMC

March 2016

Proteomic Discovery and Development of a Multiplexed Targeted MRM-LC-MS/MS Assay for Urine Biomarkers of Extracellular Matrix Disruption in Mucopolysaccharidoses I, II, and VI.

Authors:

Wendy E Heywood Stephane Camuzeaux Ivan Doykov Nina Patel Rhian-Lauren Preece Emma Footitt Maureen Cleary Peter Clayton Stephanie Grunewald Lara Abulhoul Anupam Chakrapani Neil J Sebire Peter Hindmarsh Tom J de Koning Simon Heales Derek Burke Paul Gissen Kevin Mills

Anal Chem 2015 Dec 20;87(24):12238-44. Epub 2015 Nov 20.

Centre for Translational Omics, UCL Institute of Child Health , 30 Guilford Street, London, WC1N 1EH United Kingdom.

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http://dx.doi.org/10.1021/acs.analchem.5b03232	DOI Listing

December 2015

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Authors:

Stefan Kölker Angeles Garcia-Cazorla Angeles Garcia Cazorla Vassili Valayannopoulos Allan M Lund Alberto B Burlina Jolanta Sykut-Cegielska Frits A Wijburg Elisa Leão Teles Jiri Zeman Carlo Dionisi-Vici Ivo Barić Daniela Karall Persephone Augoustides-Savvopoulou Lise Aksglaede Jean-Baptiste Arnoux Paula Avram Matthias R Baumgartner Javier Blasco-Alonso Brigitte Chabrol Anupam Chakrapani Kimberly Chapman Elisenda Cortès I Saladelafont Maria L Couce Linda de Meirleir Dries Dobbelaere Veronika Dvorakova Francesca Furlan Florian Gleich Wanda Gradowska Stephanie Grünewald Anil Jalan Johannes Häberle Gisela Haege Robin Lachmann Alexander Laemmle Eveline Langereis Pascale de Lonlay Diego Martinelli Shirou Matsumoto Chris Mühlhausen Hélène Ogier de Baulny Carlos Ortez Luis Peña-Quintana Danijela Petković Ramadža Esmeralda Rodrigues Sabine Scholl-Bürgi Etienne Sokal Christian Staufner Marshall L Summar Nicholas Thompson Roshni Vara Inmaculada Vives Pinera John H Walter Monique Williams Peter Burgard

J Inherit Metab Dis 2015 Nov 15;38(6):1041-57. Epub 2015 Apr 15.

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9839-3	DOI Listing

November 2015

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Authors:

Stefan Kölker Vassili Valayannopoulos Alberto B Burlina Jolanta Sykut-Cegielska Frits A Wijburg Elisa Leão Teles Jiri Zeman Carlo Dionisi-Vici Ivo Barić Daniela Karall Jean-Baptiste Arnoux Paula Avram Matthias R Baumgartner Javier Blasco-Alonso S P Nikolas Boy Marlene Bøgehus Rasmussen Peter Burgard Brigitte Chabrol Anupam Chakrapani Kimberly Chapman Elisenda Cortès I Saladelafont Maria L Couce Linda de Meirleir Dries Dobbelaere Francesca Furlan Florian Gleich Maria Julieta González Wanda Gradowska Stephanie Grünewald Tomas Honzik Friederike Hörster Hariklea Ioannou Anil Jalan Johannes Häberle Gisela Haege Eveline Langereis Pascale de Lonlay Diego Martinelli Shirou Matsumoto Chris Mühlhausen Elaine Murphy Hélène Ogier de Baulny Carlos Ortez Consuelo C Pedrón Guillem Pintos-Morell Luis Pena-Quintana Danijela Petković Ramadža Esmeralda Rodrigues Sabine Scholl-Bürgi Etienne Sokal Marshall L Summar Nicholas Thompson Roshni Vara Inmaculada Vives Pinera John H Walter Monique Williams Allan M Lund Angeles Garcia-Cazorla Angeles Garcia Cazorla

J Inherit Metab Dis 2015 Nov 15;38(6):1059-74. Epub 2015 Apr 15.

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://dx.doi.org/10.1007/s10545-015-9840-x	DOI Listing

November 2015

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Authors:

Stefan Kölker Angeles Garcia Cazorla Vassili Valayannopoulos Allan M Lund Alberto B Burlina Jolanta Sykut-Cegielska Frits A Wijburg Elisa Leão Teles Jiri Zeman Carlo Dionisi-Vici Ivo Barić Daniela Karall Persephone Augoustides-Savvopoulou Lise Aksglaede Jean-Baptiste Arnoux Paula Avram Matthias R Baumgartner Javier Blasco-Alonso Brigitte Chabrol Anupam Chakrapani Kimberly Chapman Elisenda Cortès I Saladelafont Maria L Couce Linda de Meirleir Dries Dobbelaere Veronika Dvorakova Francesca Furlan Florian Gleich Wanda Gradowska Stephanie Grünewald Anil Jalan Johannes Häberle Gisela Haege Robin Lachmann Alexander Laemmle Eveline Langereis Pascale de Lonlay Diego Martinelli Shirou Matsumoto Chris Mühlhausen Hélène Ogier de Baulny Carlos Ortez Luis Peña-Quintana Danijela Petković Ramadža Esmeralda Rodrigues Sabine Scholl-Bürgi Etienne Sokal Christian Staufner Marshall L Summar Nicholas Thompson Roshni Vara Inmaculada Vives Pinera John H Walter Monique Williams Peter Burgard

J Inherit Metab Dis 2015 Nov;38(6):1155-6

Department of General Pediatrics, Division of Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9867-z	DOI Listing

November 2015

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Authors:

Stefan Kölker Vassili Valayannopoulos Alberto B Burlina Jolanta Sykut-Cegielska Frits A Wijburg Elisa Leão Teles Jiri Zeman Carlo Dionisi-Vici Ivo Barić Daniela Karall Jean-Baptiste Arnoux Paula Avram Matthias R Baumgartner Javier Blasco-Alonso S P Nikolas Boy Marlene Bøgehus Rasmussen Peter Burgard Brigitte Chabrol Anupam Chakrapani Kimberly Chapman Elisenda Cortès I Saladelafont Maria L Couce Linda de Meirleir Dries Dobbelaere Francesca Furlan Florian Gleich Maria Julieta González Wanda Gradowska Stephanie Grünewald Tomas Honzik Friederike Hörster Hariklea Ioannou Anil Jalan Johannes Häberle Gisela Haege Eveline Langereis Pascale de Lonlay Diego Martinelli Shirou Matsumoto Chris Mühlhausen Elaine Murphy Hélène Ogier de Baulny Carlos Ortez Consuelo C Pedrón Guillem Pintos-Morell Luis Pena-Quintana Danijela Petković Ramadža Esmeralda Rodrigues Sabine Scholl-Bürgi Etienne Sokal Marshall L Summar Nicholas Thompson Roshni Vara Inmaculada Vives Pinera John H Walter Monique Williams Allan M Lund Angeles Garcia Cazorla

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98	Web Search
http://link.springer.com/10.1007/s10545-015-9868-y	Publisher Site
http://dx.doi.org/10.1007/s10545-015-9868-y	DOI Listing

November 2015

Outcome of children with hereditary tyrosinaemia following newborn screening.

Authors:

P J McKiernan Mary Anne Preece Anupam Chakrapani

Arch Dis Child 2015 Aug 6;100(8):738-41. Epub 2015 Jan 6.

Liver Unit and Department of Inherited Metabolic Disease, Birmingham Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1136/archdischild-2014-306886	DOI Listing

August 2015

The micronutrient status of patients with phenylketonuria on dietary treatment: an ongoing challenge.

Authors:

Sharon Evans Anne Daly John MacDonald Mary Anne Preece Saikat Santra Suresh Vijay Anupam Chakrapani Anita MacDonald

Ann Nutr Metab 2014 4;65(1):42-8. Epub 2014 Sep 4.

Birmingham Children's Hospital, Birmingham, UK.

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http://dx.doi.org/10.1159/000363391	DOI Listing

July 2015

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

Authors:

Stefan Kölker Dries Dobbelaere Johannes Häberle Peter Burgard Florian Gleich Marshall L Summar Steven Hannigan Samantha Parker Anupam Chakrapani Matthias R Baumgartner

JIMD Rep 2015 22;22:29-38. Epub 2015 Feb 22.

Division of Inherited Metabolic Diseases, Department of General Pediatrics, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany,

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http://link.springer.com/10.1007/8904_2015_408	Publisher Site
http://dx.doi.org/10.1007/8904_2015_408	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486274	PMC

July 2015

Candida Parapsilosis in peripheral blood.

Authors:

Neeraj Arora Mayur Parihar Deepak Mishra Sanjay Bhattacharya Anupam Chakrapani

Indian J Pathol Microbiol 2014 Oct-Dec;57(4):645

Department of Laboratory Haematology & Molecular genetics, TATA Medical Center, Kolkata, West Bengal, India.

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http://dx.doi.org/10.4103/0377-4929.142702	DOI Listing

April 2015

Classical Hodgkin lymphoma with coexistant plasma cell neoplasm: a case report.

Authors:

Neeraj Arora Indu Arun Anupam Chakrapani Reena Nair

Indian J Pathol Microbiol 2014 Oct-Dec;57(4):656-8

Department of Laboratory Haematology & Molecular Genetics, TATA Medical Center, Kolkata, West Bengal, India.

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http://dx.doi.org/10.4103/0377-4929.142726	DOI Listing

April 2015

Multiple lymphomatous polyposis: Characteristic endoscopic features.

Authors:

Shah Aiman Anupam Chakrapani Satyakam Sawaimoon Saugata Sen Mammen Chandy Suvadip Chatterjee

Indian J Gastroenterol 2015 Jan;34(1):87

Department of Gastroenterology, Tata Medical Center, Kolkata, 700 156, India.

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http://dx.doi.org/10.1007/s12664-014-0497-4	DOI Listing

January 2015

Plasma cell leukaemia: a management conundrum.

Authors:

Sriram Ravichandran Monali Gupta Mayur Parihar Anupam Chakrapani Reena Nair Mammen Chandy

Oxf Med Case Reports 2014 Dec 26;2014(9):159-61. Epub 2014 Dec 26.

Department of Clinical Haematology , Tata Medical Center , Kolkata , India.

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http://dx.doi.org/10.1093/omcr/omu060	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370024	PMC

December 2014

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.

Orphanet J Rare Dis 2014 Sep 2;9:130. Epub 2014 Sep 2.

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http://dx.doi.org/10.1186/s13023-014-0130-8	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4180313	PMC

September 2014

Mitochondrial carbonic anhydrase VA deficiency resulting from CA5A alterations presents with hyperammonemia in early childhood.

Am J Hum Genet 2014 Mar 13;94(3):453-61. Epub 2014 Feb 13.

Division of Biochemical Diseases, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Department of Pediatrics, BC Children's Hospital, University of British Columbia, Vancouver, BC V6H 3V4, Canada; Treatable Intellectual Disability Endeavour in British Columbia, BC Children's Hospital, University of British Columbia, Vancouver, BC V5Z 4H4, Canada.

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http://dx.doi.org/10.1016/j.ajhg.2014.01.006	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951944	PMC

March 2014

SURF1 deficiency: a multi-centre natural history study.

Orphanet J Rare Dis 2013 Jul 5;8:96. Epub 2013 Jul 5.

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http://dx.doi.org/10.1186/1750-1172-8-96	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3706230	PMC

July 2013

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

Authors:

Johannes Häberle Nathalie Boddaert Alberto Burlina Anupam Chakrapani Marjorie Dixon Martina Huemer Daniela Karall Diego Martinelli Pablo Sanjurjo Crespo René Santer Aude Servais Vassili Valayannopoulos Martin Lindner Vicente Rubio Carlo Dionisi-Vici

Orphanet J Rare Dis 2012 May 29;7:32. Epub 2012 May 29.

University Children's Hospital Zurich and Children's Research Centre, Zurich, 8032, Switzerland.

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http://dx.doi.org/10.1186/1750-1172-7-32	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3488504	PMC

May 2012

Natural history of propionic acidemia.

Authors:

Loren Pena Jill Franks Kimberly A Chapman Andrea Gropman Nicholas Ah Mew Anupam Chakrapani Eddie Island Erin MacLeod Dietrich Matern Brittany Smith Kathy Stagni V Reid Sutton Keiko Ueda Tiina Urv Charles Venditti Gregory M Enns Marshall L Summar

Mol Genet Metab 2012 Jan 22;105(1):5-9. Epub 2011 Sep 22.

University of Illinois College of Medicine at Chicago, Chicago, IL, USA.

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http://www.oaanews.org/pdf/2011-PA-NaturalHistory.pdf	Web Search
http://linkinghub.elsevier.com/retrieve/pii/S109671921100333	Publisher Site
http://dx.doi.org/10.1016/j.ymgme.2011.09.022	DOI Listing

January 2012

Acute management of propionic acidemia.

Authors:

Kimberly A Chapman Andrea Gropman Erin MacLeod Kathy Stagni Marshall L Summar Keiko Ueda Nicholas Ah Mew Jill Franks Eddie Island Dietrich Matern Loren Pena Brittany Smith V Reid Sutton Tiina Urv Charles Venditti Anupam Chakrapani

Mol Genet Metab 2012 Jan 24;105(1):16-25. Epub 2011 Sep 24.

Children's National Medical Center, Washington, DC 20010, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.09.026	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4133996	PMC

January 2012

Blastic plasmacytoid dendritic cell neoplasm presenting as fever with diffuse cutaneous nodules.

Authors:

C V Dincy Peter Anupam Chakrapani Sanjeev Shah Apurva Shah Alok Srivastava

Indian J Dermatol 2012 Jan;57(1):45-7

Department of Dermatology, Venereology and Leprosy, Christian Medical College, Vellore, India.

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http://dx.doi.org/10.4103/0019-5154.92677	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3312657	PMC

January 2012

Safety of extended treatment with sapropterin dihydrochloride in patients with phenylketonuria: results of a phase 3b study.

Authors:

Barbara K Burton Maria Nowacka Julia B Hennermann Mark Lipson Dorothy K Grange Anupam Chakrapani Friedrich Trefz Alex Dorenbaum Michael Imperiale Sun Sook Kim Paul M Fernhoff

Mol Genet Metab 2011 Aug 31;103(4):315-22. Epub 2011 Mar 31.

Children's Memorial Hospital, Chicago, IL, USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.03.020	DOI Listing

August 2011

Renal transplantation in a boy with methylmalonic acidaemia.

Authors:

Joanna Clare Clothier Anupam Chakrapani Mary-Anne Preece Patrick McKiernan Rajat Gupta Anita Macdonald Sally-Anne Hulton

J Inherit Metab Dis 2011 Jun 17;34(3):695-700. Epub 2011 Mar 17.

Department of Paediatric Nephrology, Birmingham Children's Hospital NHS Foundation Trust, Steelhouse Lane, Birmingham, West Midlands B4 6NH, UK.

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http://dx.doi.org/10.1007/s10545-011-9303-y	DOI Listing

June 2011

MR spectroscopy-based brain metabolite profiling in propionic acidaemia: metabolic changes in the basal ganglia during acute decompensation and effect of liver transplantation.

Authors:

James E Davison Nigel P Davies Martin Wilson Yu Sun Anupam Chakrapani Patrick J McKiernan John H Walter P Gissen Andrew C Peet

Orphanet J Rare Dis 2011 May 9;6:19. Epub 2011 May 9.

Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.

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http://dx.doi.org/10.1186/1750-1172-6-19	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113316	PMC

May 2011

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency.

Authors:

Lars Schlotawa Eva Charlotte Ennemann Karthikeyan Radhakrishnan Bernhard Schmidt Anupam Chakrapani Hans-Jürgen Christen Hugo Moser Beat Steinmann Thomas Dierks Jutta Gärtner

Eur J Hum Genet 2011 Mar 12;19(3):253-61. Epub 2011 Jan 12.

Department of Pediatrics and Pediatric Neurology, Georg August University Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2010.219	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3062010	PMC

March 2011

Treatment of infantile Pompe disease with alglucosidase alpha: the UK experience.

Authors:

Anupam Chakrapani Ashok Vellodi Peter Robinson Simon Jones J E Wraith

J Inherit Metab Dis 2010 Dec 24;33(6):747-50. Epub 2010 Sep 24.

Department of Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.

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http://link.springer.com/10.1007/s10545-010-9206-3	Publisher Site
http://dx.doi.org/10.1007/s10545-010-9206-3	DOI Listing

December 2010

Hyperinsulinism-hyperammonaemia syndrome: novel mutations in the GLUD1 gene and genotype-phenotype correlations.

Authors:

Ritika R Kapoor Sarah E Flanagan Piers Fulton Anupam Chakrapani Bernadette Chadefaux Tawfeg Ben-Omran Indraneel Banerjee Julian P Shield Sian Ellard Khalid Hussain

Eur J Endocrinol 2009 Nov 18;161(5):731-5. Epub 2009 Aug 18.

Developmental Endocrinology Research Group, Molecular Genetics Unit, London Centre for Paediatric Endocrinology and Metabolism, Great Ormond Street Hospital for Children NHS Trust, and The Institute of Child Health, University College London, 30 Guilford Street, London WC1N 1EH, UK.

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https://eje.bioscientifica.com/view/journals/eje/161/5/731.x	Publisher Site
http://dx.doi.org/10.1530/EJE-09-0615	DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761810	PMC

November 2009

Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy.

Authors:

Germaine Pierre Kenneth Setchell Jacqueline Blyth Mary Anne Preece Anupam Chakrapani Patrick McKiernan

J Inherit Metab Dis 2008 Dec 27;31 Suppl 2:S241-5. Epub 2008 Dec 27.

Department of Inherited Metabolic Disease, Birmingham Children's Hospital NHS Trust, Steelhouse Lane, Birmingham, B4 6NH, UK.

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http://dx.doi.org/10.1007/s10545-008-0815-z	DOI Listing

December 2008

Bone marrow transplantation in glycogen storage disease type 1b.

Authors:

Germaine Pierre Geothy Chakupurakal Patrick McKiernan Chris Hendriksz Sarah Lawson Anupam Chakrapani

J Pediatr 2008 Feb;152(2):286-8

Department of Inherited Metabolic Disease, Birmingham Children's Hospital NHS Trust, Birmingham, United Kingdom.

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https://www.researchgate.net/profile/Christian_Hendriksz/pub	Web Search
http://linkinghub.elsevier.com/retrieve/pii/S002234760700890	Publisher Site
http://dx.doi.org/10.1016/j.jpeds.2007.09.031	DOI Listing