Eugen Mengel

Eugen Mengel

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Eugen Mengel

Eugen Mengel

Publications by authors named "Eugen Mengel"

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Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C.

Clin Chim Acta 2019 Jul 12;494:58-63. Epub 2019 Mar 12.

Department of Pharmaceutical Sciences, Tohoku University Hospital, 1-1 Seiryo-machi, Aoba-ku, Sendai 980-8574, Japan; Faculty of Pharmaceutical Sciences, Tohoku University, 1-1 Seiryo-machi, Aoba-Ku, Sendai 980-8574, Japan.

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http://dx.doi.org/10.1016/j.cca.2019.03.1610DOI Listing
July 2019

Retrospective Analysis of Whole-Body Magnetic Resonance Imaging of Bone Manifestations in Long-Term Treated Patients with Gaucher Disease Type 1.

Klin Padiatr 2019 Mar 27;231(2):52-59. Epub 2018 Nov 27.

Department of Diagnostic and Interventional Radiology, Section of Pediatric Radiology, Medical Center of the Johannes Gutenberg University, Mainz, Germany.

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0788-8795
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http://dx.doi.org/10.1055/a-0788-8795DOI Listing
March 2019

Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency.

Genet Med 2017 09 13;19(9):967-974. Epub 2017 Apr 13.

Department of Pediatrics Children's Hospital at Montefiore, Albert Einstein College of Medicine, Bronx, New York, USA.

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http://dx.doi.org/10.1038/gim.2017.7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5589980PMC
September 2017

Heart and Cardiovascular Involvement in Patients with Mucopolysaccharidosis Type IVA (Morquio-A Syndrome).

PLoS One 2016 9;11(9):e0162612. Epub 2016 Sep 9.

Division of Pediatric Cardiology and Congenital Heart Diseases, Center for Diseases in Childhood and Adolescence, Mainz Medical University, Mainz, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0162612PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5017658PMC
August 2017

Lysosomal acid lipase deficiency: Expanding differential diagnosis.

Mol Genet Metab 2017 Jan - Feb;120(1-2):62-66. Epub 2016 Nov 10.

Children's Hospital Research Foundation, Cincinnati, OH, USA.

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http://dx.doi.org/10.1016/j.ymgme.2016.11.002DOI Listing
August 2017

Differences in Niemann-Pick disease Type C symptomatology observed in patients of different ages.

Mol Genet Metab 2017 03 7;120(3):180-189. Epub 2016 Dec 7.

Actelion Pharmaceuticals Ltd, Allschwil, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2016.12.003DOI Listing
March 2017

Quantification of muscle pathology in infantile Pompe disease.

Neuromuscul Disord 2017 Feb 3;27(2):141-152. Epub 2016 Nov 3.

Department of Child Neurology, Justus Liebig University, Gießen, Germany.

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http://dx.doi.org/10.1016/j.nmd.2016.10.010DOI Listing
February 2017

Treatment with pentosan polysulphate in patients with MPS I: results from an open label, randomized, monocentric phase II study.

J Inherit Metab Dis 2016 11 2;39(6):831-837. Epub 2016 Sep 2.

Icahn School of Medicine at Mount Sinai, New York, NY, USA.

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http://dx.doi.org/10.1007/s10545-016-9974-5DOI Listing
November 2016

Management of Life-Threatening Tracheal Stenosis and Tracheomalacia in Patients with Mucopolysaccharidoses.

JIMD Rep 2017 22;33:33-39. Epub 2016 Jul 22.

Center for Diseases in Childhood and Adolescence and Villa Metabolica, Mainz Medical University, Mainz, Germany.

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http://dx.doi.org/10.1007/8904_2016_578DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5413455PMC
July 2016

Acetyl-dl-leucine in Niemann-Pick type C: A case series.

Neurology 2015 Oct 23;85(16):1368-75. Epub 2015 Sep 23.

From the German Center for Vertigo and Balance Disorders (T.B., M.S.) and Department of Neurology (T.B., M.S.), Grosshadern Campus, University Hospital Munich; Graduate School of Systemic Neurosciences (T.B.), Ludwig-Maximilians University, Munich, Germany; Department of Pediatrics and Adolescence Medicine (V.M.), First Faculty of Medicine, Charles University, General University Hospital Prague, Czech Republic; Villa Metabolica (Y.A., E.M., J.R.), Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Germany; and Department of Child Neurology (M.K.), Comenius University Children's Hospital, Bratislava, Slovakia.

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http://www.neurology.org/content/85/16/1368.full.pdf
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http://www.neurology.org/cgi/doi/10.1212/WNL.000000000000204
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http://dx.doi.org/10.1212/WNL.0000000000002041DOI Listing
October 2015

A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency.

N Engl J Med 2015 Sep;373(11):1010-20

From the Northwestern University Feinberg School of Medicine and the Ann and Robert H. Lurie Children's Hospital, Chicago (B.K.B.); Icahn School of Medicine, Mount Sinai, New York (M.B.), and Women and Children's Hospital of Buffalo, Buffalo (R.E.) - both in New York; Centre Hospitalier Universitaire Brabois-Hôpital d'Enfants, Vandoeuvre-lès-Nancy (F.F.), and University Hospital Necker-Enfants Malades and Imagine Institute, Paris (V.V.) - both in France; University Hospital Center Zagreb and University of Zagreb, School of Medicine, Zagreb, Croatia (I.B.); Cincinnati Children's Hospital Medical Center, Cincinnati (T.A.B.); Hospital Universitario La Paz, Madrid (C.C.G.); Ege University Medical Faculty, Izmir (M.C.), and Gazi University Medical Faculty, Ankara (F.E.) - both in Turkey; Hospital Infantil de México Federico Gómez, Mexico City (A.C.-S.); Cambridge University Hospitals, Cambridge, United Kingdom (P.D.); Unit of Rare Diseases, Department of Pediatrics, Gaslini Institute, Genoa (M.D.R.), and University of Padua, Padua (M.S.) - both in Italy; Stanford University, Palo Alto (G.M.E.), and University of California, San Francisco, San Francisco ( J.K.) - both in California; Children's Hospital of Philadelphia, Philadelphia (C.F.); Alfred I. duPont Hospital for Children, Wilmington, DE (K.N.F.); University of Arizona Cancer Center, Tucson (C.L.); Villa Metabolica, Center of Pediatric and Adolescent Medicine, University of Mainz, Mainz (E.M.), and University Hospital Freiburg, Freiburg (K.O.S.) - both in Germany; Boston Children's Hospital, Boston (E.G.N.), and Synageva BioPharma, Lexington (Y.Y., S.E., S.R.-C., A.G.Q.) - both in Massachusetts; John Hunter Children's Hospital, and Discipline of Paediatrics and Child Health, University of Newcastle, Newcastle, NSW (S.N.), Royal Children's Hospital, Parkville, VIC (H.P.), and Royal Brisbane and Women's Hospital, Brisbane, QLD (M.W.) - all in Australia; Faculty Hospital, Palacky University, Olomouc, Czech Republic

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http://dx.doi.org/10.1056/NEJMoa1501365DOI Listing
September 2015

Pregnancy and delivery in women with Pompe disease.

Mol Genet Metab 2014 Jun 30;112(2):148-53. Epub 2014 Mar 30.

Department of Neurology, Martin-Luther-University Halle-Wittenberg, Ernst-Grube-Str. 40, 06120 Halle (Saale), Germany. Electronic address:

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http://ac.els-cdn.com/S1096719214001152/1-s2.0-S109671921400
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http://linkinghub.elsevier.com/retrieve/pii/S109671921400115
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http://dx.doi.org/10.1016/j.ymgme.2014.03.010DOI Listing
June 2014

Mucopolysaccharidosis VI: cardiac involvement and the impact of enzyme replacement therapy.

J Inherit Metab Dis 2014 Mar 24;37(2):269-76. Epub 2013 Sep 24.

Department of Paediatric cardiology, Center of Pediatric and Adolescent Medicine, University Medical Center, Johannes Gutenberg-University of Mainz, Mainz, Germany,

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http://dx.doi.org/10.1007/s10545-013-9649-4DOI Listing
March 2014

Craniocervical decompression in patients with mucopolysaccharidosis VI: development of a scoring system to determine indication and outcome of surgery.

J Inherit Metab Dis 2013 Nov 14;36(6):1005-13. Epub 2013 Feb 14.

Department of Pediatric and Adolescent Medicine, Villa Metabolica, University Medical Center of the Johannes Gutenberg-University, Mainz, Germany,

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http://link.springer.com/content/pdf/10.1007/s10545-013-9591
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http://link.springer.com/10.1007/s10545-013-9591-5
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http://dx.doi.org/10.1007/s10545-013-9591-5DOI Listing
November 2013

Niemann-Pick disease type C symptomatology: an expert-based clinical description.

Orphanet J Rare Dis 2013 Oct 17;8:166. Epub 2013 Oct 17.

Department of Lysosomal Storage Disorder, Villa Metabolica, Center for Paediatric and Adolescent Medicine, University Medical Center of the Johannes Gutenberg University Mainz, Langenbeckstrasse 1, 55131 Mainz, Germany.

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http://dx.doi.org/10.1186/1750-1172-8-166DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3853996PMC
October 2013

Clinical characteristics of adults with slowly progressing mucopolysaccharidosis VI: a case series.

J Inherit Metab Dis 2012 Nov 23;35(6):1071-9. Epub 2012 Mar 23.

Department of Psychiatry, University of Mainz, Mainz, Germany.

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http://dx.doi.org/10.1007/s10545-012-9474-1DOI Listing
November 2012

Four-year follow-up of chronic neuronopathic Gaucher disease in Europeans using a modified severity scoring tool.

J Inherit Metab Dis 2011 Oct 28;34(5):1053-9. Epub 2011 May 28.

Institute of Child Health, London, UK.

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http://dx.doi.org/10.1007/s10545-011-9347-zDOI Listing
October 2011

Gastrointestinal disturbances and their management in miglustat-treated patients.

J Inherit Metab Dis 2011 Oct 21;34(5):991-1001. Epub 2011 Jul 21.

Reference Centre for Lysosomal Diseases, Beaujon Hospital, Clichy, France.

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http://dx.doi.org/10.1007/s10545-011-9368-7DOI Listing
October 2011

The management of pregnancy in Gaucher disease.

Eur J Obstet Gynecol Reprod Biol 2011 May 26;156(1):3-8. Epub 2011 Jan 26.

Dept. of Obstetrics and Gynecology, Shaare Zedek Medical Center, Hebrew University, Jerusalem 91031, Israel.

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https://linkinghub.elsevier.com/retrieve/pii/S03012115110000
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http://dx.doi.org/10.1016/j.ejogrb.2010.12.024DOI Listing
May 2011

Niemann-Pick Type C disease: characterizing lipid levels in patients with variant lysosomal cholesterol storage.

J Lipid Res 2011 Apr 17;52(4):813-25. Epub 2011 Jan 17.

Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany.

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http://dx.doi.org/10.1194/jlr.P013524DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3284170PMC
April 2011

Peripheral neuropathy in adult type 1 Gaucher disease: a 2-year prospective observational study.

Brain 2010 Oct 7;133(10):2909-19. Epub 2010 Aug 7.

Department of Neurology, Academic Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1093/brain/awq198DOI Listing
October 2010

Lysosomal storage diseases as differential diagnosis of hepatosplenomegaly.

Best Pract Res Clin Gastroenterol 2010 Oct;24(5):619-28

Dept. of Internal Medicine/Gastroenterology, St. Franziskus-Hospital, Academic Teaching Hospital, University of Cologne, Schoensteinstrasse 63, 50825 Cologne, Germany.

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http://dx.doi.org/10.1016/j.bpg.2010.09.001DOI Listing
October 2010

A validated disease severity scoring system for Fabry disease.

Mol Genet Metab 2010 Mar 30;99(3):283-90. Epub 2009 Oct 30.

Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH 45220, USA.

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http://dx.doi.org/10.1016/j.ymgme.2009.10.178DOI Listing
March 2010

A 4-year study of the efficacy and tolerability of enzyme replacement therapy with agalsidase alfa in 36 women with Fabry disease.

Genet Med 2009 Jun;11(6):441-9

Center for Lysosomal Storage Diseases, Children's Hospital of Johannes Gutenberg University, Mainz, Germany.

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http://dx.doi.org/10.1097/GIM.0b013e3181a23becDOI Listing
June 2009

Chronic diarrhea in a 5-year-old girl: pitfall in routine laboratory testing with potentially severe consequences.

Clin Chem 2009 May;55(5):1026-30; discussion 1030-1

Institute for Clinical Chemistry and Laboratory Medicine, Johannes Gutenberg-University Mainz, Mainz, Germany.

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http://www.clinchem.org/cgi/doi/10.1373/clinchem.2008.110148
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http://dx.doi.org/10.1373/clinchem.2008.110148DOI Listing
May 2009

Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic intervention.

Blood Cells Mol Dis 2008 May-Jun;40(3):420-7. Epub 2007 Nov 28.

Lysosomal Diseases Research Unit, Department of Genetic Medicine, Children, Youth and Women's Health Service, Adelaide, South Australia, Australia.

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http://dx.doi.org/10.1016/j.bcmd.2007.10.004DOI Listing
August 2008

Cardiac manifestations of Anderson-Fabry disease in children and adolescents.

Acta Paediatr 2008 Apr;97(4):463-9

Division of Cardiology, Division of Lysosomal Storage Diseases, University Children's Hospital, Mainz, Germany.

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http://doi.wiley.com/10.1111/j.1651-2227.2008.00700.x
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http://dx.doi.org/10.1111/j.1651-2227.2008.00700.xDOI Listing
April 2008

Lysosomal storage diseases as differential diagnoses to rheumatic disorders.

Curr Opin Rheumatol 2008 Jan;20(1):76-81

Rheumatic Children's Hospital, Garmisch-Partenkirchen, Germany.

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http://dx.doi.org/10.1097/BOR.0b013e3282f169feDOI Listing
January 2008

Rheumatologic aspects of lysosomal storage diseases.

Clin Rheumatol 2007 Mar 6;26(3):335-41. Epub 2006 May 6.

Department of Medicine III, Institute for Clinical Immunology and Rheumatology, Friedrich-Alexander-University Erlangen-Nurnberg, Krankenhausstrasse 12, 91054, Erlangen, Germany.

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http://dx.doi.org/10.1007/s10067-006-0299-xDOI Listing
March 2007

IgA nephropathy in two adolescent sisters heterozygous for Fabry disease.

Pediatr Nephrol 2006 Sep 13;21(9):1251-6. Epub 2006 Jul 13.

Children's Hospital, University of Mainz, Langenbeckstr. 1, 55131, Mainz, Germany.

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http://dx.doi.org/10.1007/s00467-006-0176-5DOI Listing
September 2006

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.

Eur J Pediatr 2004 Feb 16;163(2):58-66. Epub 2003 Dec 16.

Division and Program in Human Genetics, Children's Hospital Research Foundation, Cincinnati, OH 45229-3039, USA.

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http://dx.doi.org/10.1007/s00431-003-1362-0DOI Listing
February 2004

Paediatric non-neuronopathic Gaucher disease: recommendations for treatment and monitoring.

Eur J Pediatr 2004 Feb 16;163(2):67-75. Epub 2003 Dec 16.

Unidad de Enfermedades Metabólicas, Hospital Infantil Miguel Servet, Po. Isabel la Católica, 350009 Zaragoza, Spain.

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http://dx.doi.org/10.1007/s00431-003-1363-zDOI Listing
February 2004