Publications by authors named "Julia B Hennermann"

52Publications

Everyday Life, Dietary Practices, and Health Conditions of Adult PKU Patients: A Multicenter, Cross-Sectional Study.

Ann Nutr Metab 2020 30;76(4):251-258. Epub 2020 Sep 30.

Villa Metabolica, Department of Pediatric and Adolescent Medicine, University Medical Center Mainz, Mainz, Germany,

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http://dx.doi.org/10.1159/000510260DOI Listing
September 2020

The SPARKLE registry: protocol for an international prospective cohort study in patients with alpha-mannosidosis.

Orphanet J Rare Dis 2020 09 29;15(1):271. Epub 2020 Sep 29.

International Center for Lysosomal Disorders (ICLD), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

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http://dx.doi.org/10.1186/s13023-020-01549-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7525940PMC
September 2020

Saccadic reaction time and ocular findings in phenylketonuria.

Orphanet J Rare Dis 2020 05 25;15(1):124. Epub 2020 May 25.

Department of Ophthalmology, University Medical Center Mainz, Langenbeckstr 1, 55131, Mainz, Germany.

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http://dx.doi.org/10.1186/s13023-020-01407-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7249436PMC
May 2020

Use of the Bruininks-Oseretsky test of motor proficiency (BOT-2) to assess efficacy of velmanase alfa as enzyme therapy for alpha-mannosidosis.

Mol Genet Metab Rep 2020 Jun 8;23:100586. Epub 2020 Apr 8.

Centre for Inherited Metabolic Diseases, Department of Paediatrics and Department of Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgmr.2020.100586DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7149402PMC
June 2020

Acoustic radiation force impulse point shear wave elastography of the liver and spleen in patients with Gaucher disease type 1: Correlations with clinical data and markers of disease severity.

Mol Genet Metab 2020 06 27;130(2):140-148. Epub 2020 Mar 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://dx.doi.org/10.1016/j.ymgme.2020.03.006DOI Listing
June 2020

A non-invasive diagnostic assay for rapid detection and characterization of aberrant mRNA-splicing by nonsense mediated decay inhibition.

Mol Genet Metab 2020 05 19;130(1):27-35. Epub 2020 Mar 19.

Institute of Clinical Chemistry and Laboratory Medicine, University Medical Center Mainz, Langenbeckstr. 1, 55131 Mainz, Germany. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2020.03.002DOI Listing
May 2020

The Clinical and Molecular Spectrum of GM1 Gangliosidosis.

J Pediatr 2019 12;215:152-157.e3

Villa Metabolica, Department of Pediatric and University Medical Center Mainz, Germany.

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http://dx.doi.org/10.1016/j.jpeds.2019.08.016DOI Listing
December 2019

The cardiovascular phenotype of adult patients with phenylketonuria.

Orphanet J Rare Dis 2019 09 6;14(1):213. Epub 2019 Sep 6.

Department of Pediatrics, Division of Gastroenterology, Nephrology and Metabolic Diseases, Charité - Universitätsmedizin Berlin, Campus Virchow-Klinikum, Augstenburger Platz 1, 13353, Berlin, Germany.

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http://dx.doi.org/10.1186/s13023-019-1188-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731621PMC
September 2019

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III).

Orphanet J Rare Dis 2019 05 2;14(1):93. Epub 2019 May 2.

Department of Pediatric Orthopedics, Altonaer Children's Hospital, Bleickenallee 38, 22763, Hamburg, Germany.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1
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http://dx.doi.org/10.1186/s13023-019-1065-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6498678PMC
May 2019

Pharmacokinetics, pharmacodynamics, and safety of moss-aGalactosidase A in patients with Fabry disease.

J Inherit Metab Dis 2019 05 11;42(3):527-533. Epub 2019 Feb 11.

Greenovation Biotech GmbH, Freiburg, Germany.

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http://dx.doi.org/10.1002/jimd.12052DOI Listing
May 2019

Brain imaging in classic nonketotic hyperglycinemia: Quantitative analysis and relation to phenotype.

J Inherit Metab Dis 2019 05 20;42(3):438-450. Epub 2019 Mar 20.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado, Aurora, Colorado.

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http://doi.wiley.com/10.1002/jimd.12072
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http://dx.doi.org/10.1002/jimd.12072DOI Listing
May 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

Retinal and optic nerve degeneration in α-mannosidosis.

Orphanet J Rare Dis 2018 06 1;13(1):88. Epub 2018 Jun 1.

Department of Ophthalmology, University Medical Center, Johannes Gutenberg University Mainz, Mainz, Germany.

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https://ojrd.biomedcentral.com/articles/10.1186/s13023-018-0
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http://dx.doi.org/10.1186/s13023-018-0829-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5984778PMC
June 2018

Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis.

Mol Genet Metab 2018 06 18;124(2):152-160. Epub 2018 Apr 18.

Centre for Inherited Metabolic Diseases, Department of Paediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark; Center for Genomic Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.

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http://dx.doi.org/10.1016/j.ymgme.2018.04.003DOI Listing
June 2018

Vessel shape alterations of the vertebrobasilar arteries in Mucopolysaccharidosis type IVa (Morquio A) patients.

Eur J Radiol 2017 Aug 23;93:128-133. Epub 2017 May 23.

Department of Neuroradiology, University Medical Center of the Johannes Gutenberg-University, Mainz, Germany.

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http://dx.doi.org/10.1016/j.ejrad.2017.05.026DOI Listing
August 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

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

Eight-Year Follow-Up of Neuropsychiatric Symptoms and Brain Structural Changes in Fabry Disease.

PLoS One 2015 4;10(9):e0137603. Epub 2015 Sep 4.

Department of Psychiatry and Psychotherapy, University Medical Center of the Johannes Gutenberg-University, Mainz, Germany.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0137603PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4560446PMC
May 2016

Jürgen Herwig.

J Inherit Metab Dis 2015 Jul;38(4):775

, Eisenacherstr.21, 55218, Ingelheim am Rhein, Germany,

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http://link.springer.com/10.1007/s10545-015-9853-5
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http://dx.doi.org/10.1007/s10545-015-9853-5DOI Listing
July 2015

Diagnostic approach to microcephaly in childhood: a two-center study and review of the literature.

Dev Med Child Neurol 2014 Aug 12;56(8):732-41. Epub 2014 Mar 12.

Abteilung Neuropaediatrie, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.

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http://dx.doi.org/10.1111/dmcn.12425DOI Listing
August 2014

Unknown pathomechanisms of renal impairment in PKU.

J Inherit Metab Dis 2013 Nov 17;36(6):1087-8. Epub 2013 Sep 17.

Department of Pediatric Endocrinology, Gastroenterology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Berlin, Germany,

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http://dx.doi.org/10.1007/s10545-013-9652-9DOI Listing
November 2013

Chronic kidney disease in adolescent and adult patients with phenylketonuria.

J Inherit Metab Dis 2013 Sep 9;36(5):747-56. Epub 2012 Nov 9.

Department of Pediatric Endocrinology, Gastroenterology and Metabolic Diseases, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353 Berlin, Germany.

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http://link.springer.com/content/pdf/10.1007/s10545-012-9548
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http://link.springer.com/10.1007/s10545-012-9548-0
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http://dx.doi.org/10.1007/s10545-012-9548-0DOI Listing
September 2013

Long-term treatment with tetrahydrobiopterin in phenylketonuria: treatment strategies and prediction of long-term responders.

Mol Genet Metab 2012 Nov 27;107(3):294-301. Epub 2012 Sep 27.

Otto Heubner Center for Pediatric and Adolescent Medicine, Charité Universitätsmedizin Berlin, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2012.09.021DOI Listing
November 2012

Prediction of long-term outcome in glycine encephalopathy: a clinical survey.

J Inherit Metab Dis 2012 Mar 15;35(2):253-61. Epub 2011 Oct 15.

Department of Pediatrics, Charité Universitätsmedizin, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://link.springer.com/content/pdf/10.1007/s10545-011-9398
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http://www.springerlink.com/index/H7HX72L138217417.pdf
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http://link.springer.com/10.1007/s10545-011-9398-1
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http://dx.doi.org/10.1007/s10545-011-9398-1DOI Listing
March 2012

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies.

Mol Genet Metab 2011 26;104 Suppl:S2-9. Epub 2011 Aug 26.

University Children's Hospital, Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2011.08.017DOI Listing
March 2012

Features and outcome of galactokinase deficiency in children diagnosed by newborn screening.

J Inherit Metab Dis 2011 Apr 3;34(2):399-407. Epub 2011 Feb 3.

Department of Pediatrics, Charité Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1007/s10545-010-9270-8DOI Listing
April 2011

A novel mutation in LMBRD1 causes the cblF defect of vitamin B(12) metabolism in a Turkish patient.

J Inherit Metab Dis 2010 Feb 3;33(1):17-24. Epub 2010 Feb 3.

Department of General Pediatrics, Münster University Children's Hospital, Germany.

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http://dx.doi.org/10.1007/s10545-009-9032-7DOI Listing
February 2010

False-positive newborn screening mimicking glutaric aciduria type I in infants with renal insufficiency.

J Inherit Metab Dis 2009 Dec 23;32 Suppl 1:S355-9. Epub 2009 Dec 23.

Department of Pediatrics, Charité Universitätsmedizin Berlin, Augustenburger Platz 1, 13353, Berlin, Germany.

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http://link.springer.com/10.1007/s10545-009-9017-6
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http://dx.doi.org/10.1007/s10545-009-9017-6DOI Listing
December 2009

Neonatal manifestation of multiple sulfatase deficiency.

Eur J Pediatr 2009 Aug 10;168(8):969-73. Epub 2008 Dec 10.

Institute of Medical Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.

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http://dx.doi.org/10.1007/s00431-008-0871-2DOI Listing
August 2009

Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria.

Mol Genet Metab 2005 Dec 26;86 Suppl 1:S86-90. Epub 2005 Jul 26.

Otto Heubner Center for Pediatric and Adolescent Medicine, Charité University Medical Center, Campus Virchow-Klinikum, Berlin, Germany.

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http://dx.doi.org/10.1016/j.ymgme.2005.05.013DOI Listing
December 2005

Hyperphenylalaninemia in a premature infant with heterozygosity for phenylketonuria.

J Perinat Med 2004 ;32(4):383-5

Otto Heubner Center for Pediatric and Adolescent Medicine, Charité University Medical Center, Campus Virchow-Klinikum, Humboldt University, Berlin, Germany.

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http://dx.doi.org/10.1515/JPM.2004.073DOI Listing
October 2004