Anupam Chakrapani

Anupam Chakrapani

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Anupam Chakrapani

Anupam Chakrapani

Publications by authors named "Anupam Chakrapani"

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

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/s12288-018-0978-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369099PMC
January 2019

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

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-zDOI Listing
December 2018

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

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
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http://dx.doi.org/10.1186/s13023-018-0963-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282273PMC
December 2018

Oculomotor abnormalities in children with Niemann-Pick type C.

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.2017.11.004DOI Listing
February 2018

NK/T Cell Lymphoma: A Tertiary Centre Experience.

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-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5280857PMC
March 2017

Mixed-phenotypic acute leukemia series from tertiary care center.

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/10.4103/0377-4929.200057DOI Listing
March 2017

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

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/s12288-016-0644-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4925551PMC
June 2016

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

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/10.4103/0377-4929.155354DOI Listing
April 2016

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

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
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Outcome of children with hereditary tyrosinaemia following newborn screening.

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-2014-306886DOI Listing
August 2015

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

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
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http://dx.doi.org/10.1007/8904_2015_408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486274PMC
July 2015

Candida Parapsilosis in peripheral blood.

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/10.4103/0377-4929.142702DOI Listing
April 2015

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

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/10.4103/0377-4929.142726DOI Listing
April 2015

Multiple lymphomatous polyposis: Characteristic endoscopic features.

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/s12664-014-0497-4DOI Listing
January 2015

Plasma cell leukaemia: a management conundrum.

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/omu060DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4370024PMC
December 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.2014.01.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3951944PMC
March 2014

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

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/10.4103/0019-5154.92677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3312657PMC
January 2012

Renal transplantation in a boy with methylmalonic acidaemia.

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-yDOI Listing
June 2011

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

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
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http://dx.doi.org/10.1007/s10545-010-9206-3DOI Listing
December 2010

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

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
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http://dx.doi.org/10.1530/EJE-09-0615DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2761810PMC
November 2009

Prospective treatment of cerebrotendinous xanthomatosis with cholic acid therapy.

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-zDOI Listing
December 2008

Bone marrow transplantation in glycogen storage disease type 1b.

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
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http://linkinghub.elsevier.com/retrieve/pii/S002234760700890
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http://dx.doi.org/10.1016/j.jpeds.2007.09.031DOI Listing
February 2008

A case of acute papillary muscle rupture in a child with campylobacter enteritis and citrullinaemia.

Intensive Care Med 2007 Dec 20;33(12):2214-5. Epub 2007 Oct 20.

Paediatric Intensive Care, Birmingham Children's Hospital, Steelhouse Lane, B4 6Nh Birmingham, UK.

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http://dx.doi.org/10.1007/s00134-007-0890-xDOI Listing
December 2007

Glutaryl-CoA dehydrogenase deficiency.

Pediatr Res 2007 Jan;61(1):134; author reply 134-5

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http://dx.doi.org/10.1203/01.pdr.0b013e31802d9ab4DOI Listing
January 2007

Fumarase deficiency caused by homozygous P131R mutation and paternal partial isodisomy of chromosome 1.

Am J Med Genet A 2006 May;140(9):1004-9

Molecular Neurogenetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02129, USA.

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http://dx.doi.org/10.1002/ajmg.a.31186DOI Listing
May 2006

Case 36-2005: a woman with seizure, disturbed gait, and altered mental status.

N Engl J Med 2006 Mar;354(10):1096-7; author reply 1096-7

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http://dx.doi.org/10.1056/NEJMc053506DOI Listing
March 2006

Mitochondrial trifunctional protein deficiency: a severe fatty acid oxidation disorder with cardiac and neurologic involvement.

J Pediatr 2003 Jun;142(6):684-9

Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands.

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http://dx.doi.org/10.1067/mpd.2003.231DOI Listing
June 2003

Metabolic stroke in methylmalonic acidemia five years after liver transplantation.

J Pediatr 2002 Feb;140(2):261-3

Liver Unit, Birmingham Children's Hospital, United Kingdom.

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http://dx.doi.org/10.1067/mpd.2002.121698DOI Listing
February 2002