Paul Gissen

Paul Gissen

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Paul Gissen

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Free Urinary Glycosylated Hydroxylysine as an Indicator of Altered Collagen Degradation in the Mucopolysaccharidoses.

J Inherit Metab Dis 2019 Aug 26. Epub 2019 Aug 26.

Inborn Errors of Metabolism Section, Genetics & Genomic Medicine Unit, Great Ormond Street Institute of Child Health, University College London, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1002/jimd.12166DOI Listing
August 2019

Using stem cell-derived neurons in drug screening for neurological diseases.

Neurobiol Aging 2019 06 20;78:130-141. Epub 2019 Feb 20.

MRC Laboratory for Molecular Cell Biology, University College London, London, UK; Department of Neuroscience, Physiology and Pharmacology, University College London, London, UK.

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http://dx.doi.org/10.1016/j.neurobiolaging.2019.02.008DOI Listing
June 2019

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.

J Inherit Metab Dis 2019 Feb 5. Epub 2019 Feb 5.

Division of Metabolism and Children Research Centre (CRC), University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1002/jimd.12047DOI Listing
February 2019

Age-Related Seroprevalence of Antibodies Against AAV-LK03 in a UK Population Cohort.

Hum Gene Ther 2019 Jan 19;30(1):79-87. Epub 2018 Oct 19.

1 Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.

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http://www.liebertpub.com/doi/10.1089/hum.2018.098
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http://dx.doi.org/10.1089/hum.2018.098DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6343184PMC
January 2019

Preparation of iPSCs for Targeted Proteomic Analysis.

Methods Mol Biol 2019 ;1994:131-139

Centre for Translational Omics, UCL Institute of Child Health, London, UK.

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http://dx.doi.org/10.1007/978-1-4939-9477-9_11DOI Listing
January 2019

Measurement of Bile Acids as a Marker of the Functionality of iPSC-Derived Hepatocytes.

Methods Mol Biol 2019 ;1994:141-147

Great Ormond Street Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1007/978-1-4939-9477-9_12DOI Listing
January 2019

Mass Spectrometry Measurement of Albumin-Alpha Fetoprotein Ratio as an Indicator of iPSC-Derived Hepatocyte Differentiation.

Methods Mol Biol 2019 ;1994:149-156

Great Ormond Street Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1007/978-1-4939-9477-9_13DOI Listing
January 2019

Seeding Induced Pluripotent Stem Cell-Derived Neurons onto 384-Well Plates.

Methods Mol Biol 2019 ;1994:159-164

MRC Laboratory for Molecular Cell Biology, University College London, London, UK.

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http://link.springer.com/10.1007/978-1-4939-9477-9_14
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http://dx.doi.org/10.1007/978-1-4939-9477-9_14DOI Listing
January 2019

High-Content Autophagy Analysis in iPSC-Derived Neurons Using Immunofluorescence.

Methods Mol Biol 2019 ;1994:165-174

MRC Laboratory for Molecular Cell Biology, University College London, London, UK.

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http://dx.doi.org/10.1007/978-1-4939-9477-9_15DOI Listing
January 2019

High-Content Analysis of Mitochondrial Function in iPSC-Derived Neurons.

Methods Mol Biol 2019 ;1994:175-184

MRC Laboratory for Molecular Cell Biology, University College London, London, UK.

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http://link.springer.com/10.1007/978-1-4939-9477-9_16
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http://dx.doi.org/10.1007/978-1-4939-9477-9_16DOI Listing
January 2019

Molecular architecture of the multifunctional collagen lysyl hydroxylase and glycosyltransferase LH3.

Nat Commun 2018 08 8;9(1):3163. Epub 2018 Aug 8.

The Armenise-Harvard Laboratory of Structural Biology, Department of Biology and Biotechnology, University of Pavia, Via Ferrata 9/A, 27100, Pavia, Italy.

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http://dx.doi.org/10.1038/s41467-018-05631-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6082870PMC
August 2018

Severe renal Fanconi and management strategies in Arthrogryposis-Renal dysfunction-Cholestasis syndrome: a case report.

BMC Nephrol 2018 06 15;19(1):144. Epub 2018 Jun 15.

Pediatric Nephrology, Hospital Universitario Vall d'Hebron, Passeig de la Vall d'Hebron, 119-129, 08035, Barcelona, Spain.

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http://dx.doi.org/10.1186/s12882-018-0926-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6003143PMC
June 2018

VPS33B and VIPAR are essential for epidermal lamellar body biogenesis and function.

Biochim Biophys Acta Mol Basis Dis 2018 May 31;1864(5 Pt A):1609-1621. Epub 2018 Jan 31.

MRC Laboratory for Molecular Cell Biology, University College London, London WC1E 6BT, UK; Institute of Child Health, University College London, London WC1N 1EH, UK; Inherited Metabolic Diseases Unit, Great Ormond Street Hospital, London WC1N 3JH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2018.01.028DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5906731PMC
May 2018

Study of Intraventricular Cerliponase Alfa for CLN2 Disease.

N Engl J Med 2018 05 24;378(20):1898-1907. Epub 2018 Apr 24.

From the Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany (A.S., A.K.); BioMarin Pharmaceutical, Novato, CA (T.A., H.C., P.S., D.J.); the Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome (N.S.); Nationwide Children's Hospital and Ohio State University, Columbus (E.L.R.); UCL Great Ormond Street Institute of Child Health, London (P.G.); and the Citigroup Biomedical Imaging Center, Departments of Radiology and Genetic Medicine, Weill Cornell Medical College, New York (D.B., J.P.D.).

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http://dx.doi.org/10.1056/NEJMoa1712649DOI Listing
May 2018

Lamin and the heart.

Heart 2018 03 25;104(6):468-479. Epub 2017 Nov 25.

Biomedical Research Center, NIHR University College London Hospitals, London, UK.

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http://dx.doi.org/10.1136/heartjnl-2017-312338DOI Listing
March 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

Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update.

Neurol Clin Pract 2017 Dec;7(6):499-511

Mayo Clinic (MCP), Rochester, MN; UCL Great Ormond Street Institute of Child Health (PC, PG), London, UK; Great Ormond Street Hospital (PG), London, UK; Département de Neurologie (MA), Hôpital de Hautepierre, CHU de Strasbourg; Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) (MA), INSERM-U964/CNRS-UMR7104/Université de Strasbourg, Illkirch; Fédération de Médecine Translationnelle de Strasbourg (FMTS) (MA), Université de Strasbourg, France; Institute of Medical Genetics and Applied Genomics (PB), University Hospital of Tübingen; Centogene AG (PB), Rostock, Germany; Universitaire de Psychiatrie de l'Enfant et de l'Adolescent (OB), CHU de Nantes, France; Regional Coordinator Centre for Rare Diseases (AD), University Hospital Santa Maria della Misericordia, Udine, Italy; Division of Metabolism, Bambino Gesù Children's Hospital (CD-V), Rome, Italy; Klinik und Poliklinik für Psychiatrie, Psychosomatik und Psychotherapie der Universität Regensburg am Bezirksklinikum (H-HK), Regensburg, Germany; Hospices Civils de Lyon-Centre de Biologie et Pathologie Est (PL), Bron, France; University of São Paulo (HCFMRP-USP) (CML), Ribeirão Preto, SP, Brazil; Department of Medicine (DSO), Washington University, St Louis, MO; Child Development Centre (AP), Addenbrooke's Hospital, Cambridge, UK; University of Zaragoza (MP), IIS Aragon, Spain; Department of Neurology and German Center for Vertigo and Balance Disorders (MS), University Hospital Munich, Germany; Laboratoire Gillet-Mérieux (MTV), Centre de Biologie et Pathologie Est, Hospices Civils de Lyon, Bron, France; Department of Neuropsychiatry (MW), Royal Melbourne Hospital & University of Melbourne, Australia; and Universitätsklinikum Münster (TM), Germany.

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http://dx.doi.org/10.1212/CPJ.0000000000000399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5800709PMC
December 2017

Hematopoietic Stem-Cell Gene Therapy for Cerebral Adrenoleukodystrophy.

N Engl J Med 2017 10 4;377(17):1630-1638. Epub 2017 Oct 4.

From Massachusetts General Hospital and Harvard Medical School (F.E., P.L.M.), Dana-Farber and Boston Children's Cancer and Blood Disorders Center (C. Duncan, M.A., C. Dansereau, D.A.W.), and Boston Children's Hospital, Harvard Medical School, and Harvard Stem-Cell Institute (D.A.W.), Boston, and Bluebird Bio, Cambridge (A.M.P., E.S., T.O., D.D.) - all in Massachusetts; University of Minnesota Children's Hospital, Minneapolis (P.J.O., T.C.L., W.P.M., G.V.R.); University of California, Los Angeles, Los Angeles (S.D.O., R.S., A.J.S.); University College London Great Ormond Street Hospital Institute of Child Health and Great Ormond Street Hospital NHS Trust, London (A.J.T., H.B.G., P.G.); Pediatric Neurology Department, Hôpital Bicêtre-Hôpitaux Universitaires Paris Sud, Le Kremlin Bicêtre, France (C.S., P.A.); Fundacion Investigar, Buenos Aires (H.A.); and Women's and Children's Hospital, North Adelaide, SA, Australia (D.B., N.J.C.S.).

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http://dx.doi.org/10.1056/NEJMoa1700554DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5708849PMC
October 2017

α-Synuclein binds to the ER-mitochondria tethering protein VAPB to disrupt Ca homeostasis and mitochondrial ATP production.

Acta Neuropathol 2017 07 23;134(1):129-149. Epub 2017 Mar 23.

Department of Basic and Clinical Neurosciences, Institute of Psychiatry, Psychology and Neuroscience, King's College London, 5 Cutcombe road, London, SE5 9RX, UK.

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http://dx.doi.org/10.1007/s00401-017-1704-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5486644PMC
July 2017

Gene therapy for monogenic liver diseases: clinical successes, current challenges and future prospects.

J Inherit Metab Dis 2017 07 31;40(4):497-517. Epub 2017 May 31.

Genetics and Genomic Medicine Programme, Great Ormond Street Institute of Child Health, University College London, London, UK.

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http://dx.doi.org/10.1007/s10545-017-0053-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5500673PMC
July 2017

Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.

JIMD Rep 2018 7;39:7-12. Epub 2017 Jul 7.

Department of Paediatric Metabolic Medicine, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1007/8904_2017_39DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5953899PMC
July 2017

Vps33b is crucial for structural and functional hepatocyte polarity.

J Hepatol 2017 05 9;66(5):1001-1011. Epub 2017 Jan 9.

UCL Institute of Child Health, University College London, London WC1N 1EH, UK; MRC Laboratory for Molecular Cell Biology, University College London, London WC1E 6BT, UK; Inherited Metabolic Disease Unit, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jhep.2017.01.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5387182PMC
May 2017

Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.

J Inherit Metab Dis 2017 05 2;40(3):385-394. Epub 2017 Mar 2.

Centre for Translational Omics, Genetics and Genomic Medicine, UCL Great Ormond Street Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK.

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http://dx.doi.org/10.1007/s10545-017-0025-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5393281PMC
May 2017

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification.

J Invest Dermatol 2017 04 23;137(4):845-854. Epub 2016 Dec 23.

MRC Laboratory for Molecular Cell Biology, University College London, London, UK; Institute of Child Health, University College London, London, UK; Inherited Metabolic Diseases Unit, Great Ormond Street Hospital, London, UK. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2016.12.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5358661PMC
April 2017

The CHEVI tethering complex: facilitating special deliveries.

J Pathol 2016 11;240(3):249-252

MRC Laboratory for Molecular Cell Biology, University College London, London, UK.

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http://dx.doi.org/10.1002/path.4785DOI Listing
November 2016

Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.

Mol Genet Metab 2016 08 7;118(4):244-54. Epub 2016 Jun 7.

Actelion Pharmaceuticals Ltd., Gewerbestrasse 16, 4123 Allschwil, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.06.004DOI Listing
August 2016

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease.

Ther Adv Neurol Disord 2016 May 2;9(3):216-29. Epub 2016 Mar 2.

Genetics and Genomics Medicine Unit, UCL-Institute of Child Health and UCL-MRC Laboratory of Molecular Cell Biology, Gower Street, London WC1E 6BT, UK.

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http://dx.doi.org/10.1177/1756285616635964DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811014PMC
May 2016

Novel VIPAS39 mutation in a syndromic patient with arthrogryposis, renal tubular dysfunction and intrahepatic cholestasis.

Eur J Med Genet 2016 Apr 23;59(4):237-9. Epub 2016 Jan 23.

Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran; Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Network of Immunity in Infection, Malignancy and Autoimmunity (NIIMA), Universal Scientific Education and Research Network (USERN), Tehran, Iran. Electronic address:

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http://dx.doi.org/10.1016/j.ejmg.2016.01.005DOI Listing
April 2016

Inherited metabolic disorders presenting as acute liver failure in newborns and young children: King's College Hospital experience.

Eur J Pediatr 2015 Oct 24;174(10):1387-92. Epub 2015 Apr 24.

Pediatric Liver Unit, King's College Hospital NHS Foundation Trust, Denmark Hill, London, SE5 9RS, UK.

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http://dx.doi.org/10.1007/s00431-015-2540-6DOI Listing
October 2015

Structural and functional hepatocyte polarity and liver disease.

J Hepatol 2015 Oct 24;63(4):1023-37. Epub 2015 Jun 24.

Cell Biology and Metabolism Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, United States.

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http://dx.doi.org/10.1016/j.jhep.2015.06.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4582071PMC
October 2015

Hepatic regenerative medicine.

J Hepatol 2015 Aug 10;63(2):523-4. Epub 2015 Jun 10.

Institute for Liver and Digestive Health, University College London, London, United Kingdom.

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http://dx.doi.org/10.1016/j.jhep.2015.05.001DOI Listing
August 2015

VPS33B regulates protein sorting into and maturation of α-granule progenitor organelles in mouse megakaryocytes.

Blood 2015 Jul 6;126(2):133-43. Epub 2015 May 6.

Medical Research Council, Laboratory for Molecular Cell Biology, University College London, London, United Kingdom; Inherited Metabolic Diseases, Great Ormond Street Hospital, London, United Kingdom.

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http://dx.doi.org/10.1182/blood-2014-12-614677DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4497959PMC
July 2015

Cathepsin D deficiency causes juvenile-onset ataxia and distinctive muscle pathology.

Neurology 2014 Nov 8;83(20):1873-5. Epub 2014 Oct 8.

From UCL Institute of Neurology and the National Hospital for Neurology and Neurosurgery (J.H., N.W.W., H.H.); Great Ormond Street Hospital for Children NHS Foundation Trust (D.B., G.A., T.S.J.); UCL Institute of Child Health (R.C., T.S.J., P.M., P.G.); Barts NHS Trust (J.F.), Royal London Hospital; and UCL (P.G., S.E.M.), London, UK.

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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000098
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http://dx.doi.org/10.1212/WNL.0000000000000981DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4240432PMC
November 2014

Arthrogryposis, renal dysfunction, and cholestasis syndrome caused by VIPAR mutation.

J Pediatr Gastroenterol Nutr 2014 Mar;58(3):e29-32

*Pediatric Hepatology and Pediatric Liver Transplantation Unit, National Reference Centre for Biliary Atresia †Pathology Unit, Hôpital Bicêtre, Assistance Publique-Hôpitaux de Paris, Université Paris Sud 11, Le Kremlin-Bicêtre, France ‡Laboratory for Molecular Cell Biology, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1097/MPG.0b013e318298108fDOI Listing
March 2014

Polymorphisms in ABCB11 and ATP8B1 Associated with Development of Severe Intrahepatic Cholestasis in Hodgkin's Lymphoma.

J Clin Exp Hepatol 2013 Jun 7;3(2):159-61. Epub 2013 Feb 7.

Institute of Liver Studies and Transplantation, King's College London School of Medicine at King's College Hospital, Denmark Hill, London SE5 9RS, UK.

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http://dx.doi.org/10.1016/j.jceh.2013.01.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3940180PMC
June 2013

Alagille syndrome and other hereditary causes of cholestasis.

Clin Liver Dis 2013 May;17(2):279-300

Liver Unit, Birmingham Children's Hospital, Steelhouse Lane, Birmingham B4 6NH, UK.

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http://dx.doi.org/10.1016/j.cld.2012.12.004DOI Listing
May 2013

A combination of mutations in AKR1D1 and SKIV2L in a family with severe infantile liver disease.

Orphanet J Rare Dis 2013 May 16;8:74. Epub 2013 May 16.

Department of Medical and Molecular Genetics and Centre for Rare Diseases and Personalised Medicine, University of Birmingham School of Medicine, Birmingham, UK.

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http://dx.doi.org/10.1186/1750-1172-8-74DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3659031PMC
May 2013

Glomerular involvement in the arthrogryposis, renal dysfunction and cholestasis syndrome.

Clin Kidney J 2013 Apr 29;6(2):183-8. Epub 2013 Jan 29.

Department of Paediatric Nephrology , Bristol Royal Hospital for Children , Bristol , UK ; Academic Renal Unit , University of Bristol , Bristol , UK.

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https://academic.oup.com/ckj/article-lookup/doi/10.1093/ckj/
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http://dx.doi.org/10.1093/ckj/sfs182DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4432437PMC
April 2013

Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis.

Hum Mol Genet 2012 Dec 10;21(24):5268-79. Epub 2012 Sep 10.

Department of Medical and Molecular Genetics, Centre for Rare Diseases and Personalized Medicine, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental Sciences, Edgbaston, Birmingham, UK.

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http://dx.doi.org/10.1093/hmg/dds378DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3755511PMC
December 2012

Mice lacking the ITIM-containing receptor G6b-B exhibit macrothrombocytopenia and aberrant platelet function.

Sci Signal 2012 Oct 30;5(248):ra78. Epub 2012 Oct 30.

Centre of Cardiovascular Sciences, Institute of Biomedical Research, School of Clinical and Experimental Medicine, College of Medical and Dental Sciences, University of Birmingham, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1126/scisignal.2002936DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973664PMC
October 2012

Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.

J Inherit Metab Dis 2012 May 17;35(3):521-30. Epub 2011 Nov 17.

Clinical & Molecular Genetics Unit, UCL Institute of Child Health, London WC1N 1EH, UK.

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http://link.springer.com/10.1007/s10545-011-9416-3
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http://dx.doi.org/10.1007/s10545-011-9416-3DOI Listing
May 2012

The monoamine neurotransmitter disorders: an expanding range of neurological syndromes.

Lancet Neurol 2011 Aug;10(8):721-33

Neurosciences Unit, UCL-Institute of Child Health, London UK.

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http://dx.doi.org/10.1016/S1474-4422(11)70141-7DOI Listing
August 2011

Magnetic resonance spectroscopy in the diagnostic evaluation of brainstem lesions in Alexander disease.

J Child Neurol 2011 Mar 26;26(3):356-60. Epub 2011 Jan 26.

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

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http://dx.doi.org/10.1177/0883073810381279DOI Listing
March 2011

Quantitative in vivo brain magnetic resonance spectroscopic monitoring of neurological involvement in mucopolysaccharidosis type II (Hunter Syndrome).

J Inherit Metab Dis 2010 Dec 1;33 Suppl 3:S395-9. Epub 2010 Oct 1.

Clinical Inherited Metabolic Disorders, Birmingham Children's Hospital NHS Foundation Trust, Birmingham, UK.

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http://link.springer.com/content/pdf/10.1007/s10545-010-9197
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http://link.springer.com/10.1007/s10545-010-9197-0
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http://dx.doi.org/10.1007/s10545-010-9197-0DOI Listing
December 2010

Trafficking and transporter disorders in pediatric cholestasis.

Clin Liver Dis 2010 Nov;14(4):619-33

Institute of Liver Studies, King's College Hospital, Denmark Hill, London SE5 9RS, UK.

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http://linkinghub.elsevier.com/retrieve/pii/S108932611000075
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http://dx.doi.org/10.1016/j.cld.2010.08.001DOI Listing
November 2010

Phospholipase C beta 1 deficiency is associated with early-onset epileptic encephalopathy.

Brain 2010 Oct 9;133(10):2964-70. Epub 2010 Sep 9.

Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research, Birmingham, UK.

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http://dx.doi.org/10.1093/brain/awq238DOI Listing
October 2010

Mutations in TTC37 cause trichohepatoenteric syndrome (phenotypic diarrhea of infancy).

Gastroenterology 2010 Jun 20;138(7):2388-98, 2398.e1-2. Epub 2010 Feb 20.

Department of Medical and Molecular Genetics, School of Clinical and Experimental Medicine, University of Birmingham College of Medical and Dental School, Institute of Biomedical Research, Edgbaston, Birmingham, UK.

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http://dx.doi.org/10.1053/j.gastro.2010.02.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3166659PMC
June 2010

A novel VPS33B mutation in an ARC syndrome patient presenting with osteopenia and fractures at birth.

Am J Med Genet A 2007 Dec;143A(23):2835-7

Division of Pediatric Endocrinology, Department of Pediatrics, King Faisal Specialist Hospital and Research Centre-Jeddah, Kingdom of Saudi Arabia.

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http://doi.wiley.com/10.1002/ajmg.a.32051
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http://dx.doi.org/10.1002/ajmg.a.32051DOI Listing
December 2007

Cargos and genes: insights into vesicular transport from inherited human disease.

J Med Genet 2007 Sep 25;44(9):545-55. Epub 2007 May 25.

Department of Medical and Molecular Genetics, University of Birmingham School of Medicine, Institute of Biomedical Research West, Edgbaston, Birmingham, B15 2TT, UK.

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http://dx.doi.org/10.1136/jmg.2007.050294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2597945PMC
September 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

Requirement of VPS33B, a member of the Sec1/Munc18 protein family, in megakaryocyte and platelet alpha-granule biogenesis.

Blood 2005 Dec 25;106(13):4159-66. Epub 2005 Aug 25.

Department of Paediatrics, Division of Clinical and Metabolic Genetics, Programme in Cell Biology, The Hospital for Sick Children, University of Toronto, 555 University Ave, Toronto, ON, M5G 1X8, Canada.

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http://www.bloodjournal.org/cgi/doi/10.1182/blood-2005-04-13
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http://dx.doi.org/10.1182/blood-2005-04-1356DOI Listing
December 2005

Zebrafish vps33b, an ortholog of the gene responsible for human arthrogryposis-renal dysfunction-cholestasis syndrome, regulates biliary development downstream of the onecut transcription factor hnf6.

Development 2005 Dec;132(23):5295-306

Division of Gastroenterology and Nutrition, The Children's Hospital of Philadelphia and Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA 19104, USA.

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http://dx.doi.org/10.1242/dev.02140DOI Listing
December 2005