Rahul Phadke

Rahul Phadke

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Rahul Phadke

Rahul Phadke

Publications by authors named "Rahul Phadke"

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Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.

Neuromuscul Disord 2019 Aug 19. Epub 2019 Aug 19.

MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom; Department of Neuromuscular Diseases, UCL Institute of Neurology, Queen Square, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2019.08.003DOI Listing
August 2019

A novel case of MSTO1 gene related congenital muscular dystrophy with progressive neurological involvement.

Neuromuscul Disord 2019 Jun 27;29(6):448-455. Epub 2019 Mar 27.

Dubowitz Neuromuscular Centre, MRC Centre for Neuromuscular Diseases, UCL Great Ormond Street Institute of Child Health, London, UK; NIHR Great Ormond Street Hospital Biomedical Research Centre, UCL Great Ormond Street Institute of Child Health, London, UK. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S09608966183137
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http://dx.doi.org/10.1016/j.nmd.2019.03.011DOI Listing
June 2019

Myopathology of Congenital Myopathies: Bridging the Old and the New.

Authors:
Rahul Phadke

Semin Pediatr Neurol 2019 Apr 10;29:55-70. Epub 2019 Feb 10.

Dubowitz Neuromuscular Centre, Great Ormond Street Hospital for Children and Division of Neuropathology, National Hospital for Neurology and Neurosurgery, London, UK; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.spen.2019.01.007DOI Listing
April 2019

Electromyography and muscle biopsy in paediatric neuromuscular disorders - Evaluation of current practice and literature review.

Neuromuscul Disord 2019 Jan 31;29(1):14-20. Epub 2018 Oct 31.

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

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http://dx.doi.org/10.1016/j.nmd.2018.10.003DOI Listing
January 2019

ECEL1 gene related contractural syndrome: Long-term follow-up and update on clinical and pathological aspects.

Neuromuscul Disord 2018 09 30;28(9):741-749. Epub 2018 Jun 30.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health & Great Ormond Street Hospital for Children, 30 Guilford Street, London WC1N 1EH, United Kingdom; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2018.05.012DOI Listing
September 2018

Congenital Titinopathy: Comprehensive characterization and pathogenic insights.

Ann Neurol 2018 06;83(6):1105-1124

Harry Perkins Institute, University of Western Australia, Nedlands, Western Australia, Australia.

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http://dx.doi.org/10.1002/ana.25241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6105519PMC
June 2018

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

Neuromuscul Disord 2018 04 10;28(4):346-349. Epub 2018 Jan 10.

MRC Centre for Neuromuscular Disease and Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2018.01.002DOI Listing
April 2018

Congenital myopathies: disorders of excitation-contraction coupling and muscle contraction.

Nat Rev Neurol 2018 03 2;14(3):151-167. Epub 2018 Feb 2.

The Dubowitz Neuromuscular Centre, Developmental Neurosciences Programme, UCL Great Ormond Street Institute of Child Health and Great Ormond Street Hospital for Children, London, UK.

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http://dx.doi.org/10.1038/nrneurol.2017.191DOI Listing
March 2018

A thoracic extradural chordoid meningioma: a unique case report and literature review.

Br J Neurosurg 2018 Jan 22:1-3. Epub 2018 Jan 22.

b Neurosurgery , Brighton and Sussex University Hospital , Brighton , UK.

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https://www.tandfonline.com/doi/full/10.1080/02688697.2018.1
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http://dx.doi.org/10.1080/02688697.2018.1426721DOI Listing
January 2018

Impact of ghrelin on body composition and muscle function in a long-term rodent model of critical illness.

PLoS One 2017 10;12(8):e0182659. Epub 2017 Aug 10.

Bloomsbury Institute of Intensive Care Medicine, Division of Medicine, University College London, London, United Kingdom.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0182659PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5552127PMC
October 2017

Myopathology of Adult and Paediatric Mitochondrial Diseases.

Authors:
Rahul Phadke

J Clin Med 2017 Jul 4;6(7). Epub 2017 Jul 4.

Division of Neuropathology, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, UCLH NHS Foundation Trust, London WC1N 3BG, UK.

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http://dx.doi.org/10.3390/jcm6070064DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5532572PMC
July 2017

Redefining the phenotype of ALSP and mutation-related leukodystrophy.

Neurol Genet 2017 Apr 15;3(2):e135. Epub 2017 Feb 15.

Lysholm Department of Neuroradiology (R.L., M.E.A., I.D.), the National Hospital for Neurology and Neurosurgery; Department of Molecular Neuroscience (D.S.L., H.H.), UCL Institute of Neurology; the Leonard Wolfson Experimental Neurology Centre (D.S.L., J.A.K.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology; Dementia Research Centre (J.A.K., J.M.S., J.D.R., N.C.F.), Department of Neurodegeneration, UCL Institute of Neurology, UK; Department of Neurology (J.A.K.), St Vincent's University Hospital, University College Dublin, Ireland; Division of Neuropathology and Department of Neurodegenerative Disease (R.P.), Charles Dent Metabolic Unit (E.M.), Department of Neuroinflammation (J.C.), Neurogenetics Laboratory (H.H.), and Department of Brain Repair and Rehabilitation (I.D.), the National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, UK.

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http://dx.doi.org/10.1212/NXG.0000000000000135DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5312114PMC
April 2017

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Neuromuscul Disord 2016 08 11;26(8):504-10. Epub 2016 May 11.

MRC Centre for Neuromuscular Diseases and Department of Molecular Neuroscience, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London, UK; Dubowitz Neuromuscular Centre, UCL Institute of Child Health, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1016/j.nmd.2016.05.006DOI Listing
August 2016

Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series.

J Neurol Neurosurg Psychiatry 2016 May 2;87(5):512-9. Epub 2015 May 2.

Department of Molecular Neuroscience, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, Queen Square, London, UK.

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http://dx.doi.org/10.1136/jnnp-2015-310788DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4853550PMC
May 2016

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency.

Eur J Paediatr Neurol 2016 May 11;20(3):483-8. Epub 2016 Jan 11.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, 369 Fulham Road, London, SW10 9NH, United Kingdom; The Portland Hospital for Women and Children, 205-209 Great Portland St, London, W1W 5AH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2015.12.016DOI Listing
May 2016

Choline Kinase Beta-Related Muscular Dystrophy, Appearance of Muscle Involvement on Magnetic Resonance Imaging.

Pediatr Neurol 2016 Jan 6;54:49-54. Epub 2015 Nov 6.

Dubowitz Neuromuscular Centre, UCL Institute of Child Health and Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.1016/j.pediatrneurol.2015.09.018DOI Listing
January 2016

Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.

Brain 2015 Nov 10;138(Pt 11):e392. Epub 2015 Jun 10.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital. Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awv160DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4719680PMC
November 2015

Qualitative Ultrasound in Acute Critical Illness Muscle Wasting.

Crit Care Med 2015 Aug;43(8):1603-11

1Institute of Health and Human Performance, University College London, London, United Kingdom. 2Centre of Human and Aerospace Physiological Sciences, Kings College London, London, United Kingdom. 3Division of Respiratory and Critical Care, University Medicine Cluster, National University Health System, Singapore, Singapore. 4University College London Institute of Neurology, National Hospital for Neurology and Neurosurgery, London, United Kingdom. 5Hepatology and Gastroenterology, St Mary's Hospital, Imperial College London, London, United Kingdom. 6Institute of Liver Studies, Kings College Hospital NHS Foundation Trust, London, United Kingdom. 7Kings College Hospital NHS Foundation Trust, London, United Kingdom. 8King's College London School of Medicine, London, United Kingdom. 9Guy's and St Thomas' and King's College London, NIHR Comprehensive Biomedical Research Centre, London, United Kingdom.

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http://pdfs.journals.lww.com/ccmjournal/2015/08000/Qualitati
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http://content.wkhealth.com/linkback/openurl?sid=WKPTLP:land
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http://dx.doi.org/10.1097/CCM.0000000000001016DOI Listing
August 2015

Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis.

J Child Neurol 2015 Apr 30;30(5):654-8. Epub 2014 Apr 30.

Department of Paediatric Neurology, Chelsea and Westminster Hospital NHS Foundation Trust, London, United Kingdom.

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http://dx.doi.org/10.1177/0883073814532546DOI Listing
April 2015

Zellweger syndrome and secondary mitochondrial myopathy.

Eur J Pediatr 2015 Apr 7;174(4):557-63. Epub 2014 Oct 7.

Department of Paediatric Neurology, Chelsea and Westminster NHS Foundation Trust, London, UK,

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http://dx.doi.org/10.1007/s00431-014-2431-2DOI Listing
April 2015

Diagnosis of neuroinvasive astrovirus infection in an immunocompromised adult with encephalitis by unbiased next-generation sequencing.

Clin Infect Dis 2015 Mar 7;60(6):919-23. Epub 2015 Jan 7.

Department of Laboratory Medicine, University of California, San Francisco UCSF-Abbott Viral Diagnostics and Discovery Center, San Francisco, California Department of Medicine, Division of Infectious Diseases, University of California, San Francisco.

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http://dx.doi.org/10.1093/cid/ciu912DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4345816PMC
March 2015

Detailed characterization of a long-term rodent model of critical illness and recovery.

Crit Care Med 2015 Mar;43(3):e84-96

1Bloomsbury Institute of Intensive Care Medicine, Division of Medicine, University College London, London, United Kingdom. 2Academic Department of Military Medicine, Royal Centre for Defence Medicine, Birmingham, United Kingdom. 3Section of Investigative Medicine, Imperial College London, London, United Kingdom. 4Division of Neuropathology, UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, United Kingdom. 5Department of Neurodegenerative Disease, UCL Institute of Neurology, London, United Kingdom. 6Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Disorders, University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, United Kingdom. 7Laboratoire de Physiologie de l'Exercice, Université de Lyon, Saint Etienne, France. 8Centre for Perioperative Medicine and Critical Care Research, Imperial College Healthcare NHS Trust, London, United Kingdom.

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http://dx.doi.org/10.1097/CCM.0000000000000854DOI Listing
March 2015

Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2.

Brain 2015 Feb 14;138(Pt 2):293-310. Epub 2014 Dec 14.

2 Institute for Neuroscience and Muscle Research, Children's Hospital at Westmead, New South Wales, 2145, Australia 3 Discipline of Paediatrics and Child Health, Faculty of Medicine, The University of Sydney, Sydney, New South Wales, 2006, Australia 24 Murdoch Children's Research Institute. The Royal Children's Hospital, Parkville Victoria 3052 Australia 25 Department of Paediatrics, University of Melbourne Parkville Victoria 3010 Australia.

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http://dx.doi.org/10.1093/brain/awu356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4306822PMC
February 2015

Novel mutations expand the clinical spectrum of DYNC1H1-associated spinal muscular atrophy.

Neurology 2015 Feb 21;84(7):668-79. Epub 2015 Jan 21.

From the Dubowitz Neuromuscular Center (M.S., M.C., S.R., A.Y.M., A.R.F., C.S., R.P., F.M.) and MRC Center for Neuromuscular Diseases (F.M.), UCL Institute of Child Health, London; MRC Center for Neuromuscular Diseases (A.M.R., M.M.R.), UCL Institute of Neurology, Queen Square, London, UK; Neuromuscular Division (M.B.H., A.M.C., M.T.A.-L.), Department of Neurology, Washington University School of Medicine, St. Louis, MO; Research Center for Genetic Medicine (S.C.), Children's National Medical Center, Washington, DC; Galdakao-Usansolo Hospital (A.M.A., A.R.S.), Department of Neurology, Barrio Labeaga s/n, Usansolo, Vizcaya, Spain; St George's NHS Health Care Trust (S.M., P.F., I.H.), London, UK; Department of Paediatric Neurology (A.K.), University Children's Hospital, Zurich, Switzerland; Department of Pediatrics (M.Y.), University of Colorado Denver; Department of Neurology (M.D.V., W.C.G.O.-P., F.B.), Academic Medical Center, University of Amsterdam, the Netherlands; Human Genetics Unit (C.M.), Ninewells Hospital, Dundee; Center for Inherited Neuromuscular Diseases (C.S.), RJAH Orthopaedic NHS Foundation Trust, Oswestry; School of Life Sciences (M.H.), University of Sussex, John Maynard Smith Building, Brighton; Radiology Department (W.K.C.) and Neurophysiology Department (M.P.), Great Ormond Street Hospital, London, UK; Paediatric Neurology Unit (E.M.), Policlinico Gemelli, Rome, Italy; Department of Neurology (R.H.B.), Cedars Sinai Medical Center, Los Angeles, CA; Department of Developmental Neurobiology (J.P.T.), St. Jude Children's Research Hospital, Memphis, TN; Neurology Department (M.B.), University of Miami Miller School of Medicine, FL; and Department of Neurology (J.N., C.G.E.L.d.G.), Royal Preston Hospital, UK.

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http://www.neurology.org/content/84/7/668.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000126
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http://dx.doi.org/10.1212/WNL.0000000000001269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336105PMC
February 2015

Congenital myopathies: Natural history of a large pediatric cohort.

Neurology 2015 Jan 26;84(1):28-35. Epub 2014 Nov 26.

From the Dubowitz Neuromuscular Centre and MRC Centre for Neuromuscular Disorders (I.C., M.S., A.Y.M., S.A.R., V.G., C.S., F.M.), University College London Institute of Child Health and Great Ormond Street Hospital for Children, London, UK; Neuromuscular Unit (I.C.), Department of Neurological Sciences, IRCCS Foundation Cà Granda, Ospedale Maggiore Policlinico, Dino Ferrari Centre, Milan, University of Milan; Muscle Pathology and Neuroimmunology Unit (L.M.), Foundation IRCCS Neurological Institute C. Besta, Milan, Italy; DNA Laboratory (T.C., M.Y.), GSTS Pathology, Guy's Hospital, London; University College London Department of Neurology (R.P.), National Hospital for Neurology and Neurosurgery, London; Wolfson Centre for Inherited Neuromuscular Diseases RJAH (C.S.), Oswestry; Department of Paediatric Neurology (H.J.), Evelina Children's Hospital, London; Randall Division for Cell and Molecular Biophysics (H.J.), Muscle Signalling Section, King's College, London; and Clinical Neuroscience Division (H.J.), IoP, London, UK.

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http://dx.doi.org/10.1212/WNL.0000000000001110DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4336094PMC
January 2015

Limb girdle muscular dystrophy due to LAMA2 mutations: diagnostic difficulties due to associated peripheral neuropathy.

Neuromuscul Disord 2014 Aug 2;24(8):677-83. Epub 2014 Jun 2.

Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London WC1N 1EH, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2014.05.008DOI Listing
August 2014

Plurihormonal pituitary adenoma with concomitant adrenocorticotropic hormone (ACTH) and growth hormone (GH) secretion: a report of two cases and review of the literature.

Acta Neurochir (Wien) 2014 Jan 1;156(1):141-6. Epub 2013 Oct 1.

Victor Horsley Department of Neurosurgery, National Hospital for Neurology and Neurosurgery, Queen Square, London, WC1N 3BG, UK,

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http://link.springer.com/10.1007/s00701-013-1890-y
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http://dx.doi.org/10.1007/s00701-013-1890-yDOI Listing
January 2014

Strawberries on the brain--intracranial capillary hemangioma: two case reports and systematic literature review in children and adults.

World Neurosurg 2013 Dec 13;80(6):900.e13-21. Epub 2012 Dec 13.

Victor Horsley Department of Neurosurgery, The National Hospital for Neurology and Neurosurgery, London, United Kingdom. Electronic address:

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http://dx.doi.org/10.1016/j.wneu.2012.12.013DOI Listing
December 2013

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.

JAMA Neurol 2013 Dec;70(12):1556-61

Medical Research Council Centre for Neuromuscular Diseases, University College London Institute of Neurology and National Hospital for Neurology and Neurosurgery, London, England13Department of Molecular Neuroscience, University College London Institute o.

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http://dx.doi.org/10.1001/jamaneurol.2013.3242DOI Listing
December 2013

DOK7 congenital myasthenic syndrome in childhood: early diagnostic clues in 23 children.

Neuromuscul Disord 2013 Nov 3;23(11):883-91. Epub 2013 Jul 3.

Department of Paediatric Neurology, University Children's Hospital, Zurich, Switzerland; Dubowitz Neuromuscular Centre, Institute of Child Health and Great Ormond Street Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.nmd.2013.06.002DOI Listing
November 2013

BAG3 mutations: another cause of giant axonal neuropathy.

J Peripher Nerv Syst 2012 Jun;17(2):210-6

MRC Centre for Neuromuscular Diseases, Department of Molecular Neurosciences, UCL Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.

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http://dx.doi.org/10.1111/j.1529-8027.2012.00409.xDOI Listing
June 2012

Neurofibrillary tangle pathology and Braak staging in chronic epilepsy in relation to traumatic brain injury and hippocampal sclerosis: a post-mortem study.

Brain 2011 Oct 8;134(Pt 10):2969-81. Epub 2011 Sep 8.

Department of Clinical and Experimental Epilepsy, UCL, Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, UK.

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http://dx.doi.org/10.1093/brain/awr209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3187539PMC
October 2011

Neurological picture. Metastatic choriocarcinoma.

J Neurol Neurosurg Psychiatry 2011 Mar 30;82(3):347-8. Epub 2010 Sep 30.

National Hospital for Neurology and Neurosurgery, Queen Square, London WC1 3BG, UK.

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http://dx.doi.org/10.1136/jnnp.2010.220012DOI Listing
March 2011

Pupillary dysfunction in an atypical case of mitochondrial myopathy with tubular aggregates.

J Neuroophthalmol 2010 Jun;30(2):153-6

Department of Neuro-Ophthalmology, National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.

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http://dx.doi.org/10.1097/WNO.0b013e3181dbfdcdDOI Listing
June 2010

The phenomenon of disproportionate antecollis in Parkinson's disease and multiple system atrophy.

Mov Disord 2007 Dec;22(16):2325-31

Sobell Department of Motor Neuroscience and Movement Disorders, Institute of Neurology, London, United Kingdom.

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http://dx.doi.org/10.1002/mds.21634DOI Listing
December 2007

Mature teratoma arising from the middle cranial fossa.

Ann Diagn Pathol 2004 Feb;8(1):28-31

Department of Pathology, Seth G.S. Medical College and K.E.M. Hospital, Mumbai.

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February 2004

Ruptured amoebic liver abscess with amoebic colitis.

J Hepatol 2003 Jan;38(1):118

Department of Pathology, TN Medical College and BYL Nair Charitable Hospital, Mumbai, India.

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http://dx.doi.org/10.1016/s0168-8278(02)00351-3DOI Listing
January 2003