Diana Ballhausen

Diana Ballhausen

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Diana Ballhausen

Diana Ballhausen

Publications by authors named "Diana Ballhausen"

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Ammonium accumulation and chemokine decrease in culture media of Gcdh 3D reaggregated brain cell cultures.

Mol Genet Metab 2019 04 18;126(4):416-428. Epub 2019 Jan 18.

Pediatric Metabolic Disease Unit, Department of Pediatrics, Lausanne University Hospital, Chemin de Mont-Paisible 18, 1011 Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.01.009DOI Listing
April 2019

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 Mar 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria.

Mol Genet Metab 2018 08 18;124(4):266-277. Epub 2018 Jun 18.

Center of Molecular Diseases, Lausanne University Hospital, Lausanne 1011, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.06.008DOI Listing
August 2018

Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study.

Eur J Paediatr Neurol 2018 May 16;22(3):369-379. Epub 2018 Feb 16.

Genetics and Genome Biology Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada; Division of Clinical and Metabolic Genetics, Department of Paediatrics, University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address:

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http://dx.doi.org/10.1016/j.ejpn.2018.02.007DOI Listing
May 2018

Epidemiology of mucopolysaccharidoses.

Mol Genet Metab 2017 07 26;121(3):227-240. Epub 2017 May 26.

Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, United States; Department of Pediatrics, Gifu University, Gifu, Japan; Department of Pediatrics, Thomas Jefferson University, Philadelphia, PA, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.05.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5653283PMC
July 2017

Immunolocalization of glutaryl-CoA dehydrogenase (GCDH) in adult and embryonic rat brain and peripheral tissues.

Neuroscience 2017 02 27;343:355-363. Epub 2016 Oct 27.

Inborn Errors of Metabolism, Center for Molecular Diseases, Centre Hospitalier Universitaire Vaudois and University of Lausanne, 1011 Lausanne, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.neuroscience.2016.10.049DOI Listing
February 2017

(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.

Eur J Med Chem 2017 Jan 29;126:160-170. Epub 2016 Sep 29.

Université d'Orléans & CNRS, Institut de Chimie Organique et Analytique (ICOA), UMR 7311, Rue de Chartres, 45067 Orléans, France. Electronic address:

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http://dx.doi.org/10.1016/j.ejmech.2016.09.095DOI Listing
January 2017

[Raising the internist's know-how in the field of rare diseases: mitochondrial diseases as an illustrative example].

Rev Med Suisse 2017 Jan;13(546):159-163

Centre des maladies moléculaires, Service de génétique médicale, CHUV, 1011 Lausanne.

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January 2017

Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria.

Mol Genet Metab 2016 09 30;119(1-2):57-67. Epub 2016 Jul 30.

Center of Molecular Diseases, Lausanne University Hospital, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.07.013DOI Listing
September 2016

Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I.

PLoS One 2013 10;8(1):e53735. Epub 2013 Jan 10.

Inborn Errors of Metabolism, Molecular Pediatrics, Lausanne University Hospital, Lausanne, Switzerland.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0053735PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3542363PMC
July 2013

Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures.

Orphanet J Rare Dis 2013 Jan 8;8. Epub 2013 Jan 8.

Inborn Errors of Metabolism, Molecular Pediatrics, Lausanne University Hospital, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1186/1750-1172-8-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3567978PMC
January 2013

[New therapies for children affected by bone diseases].

Rev Med Suisse 2012 Feb;8(329):398-402

Division de pédiatrie moléculaire, CHUV et Université de Lausanne, 1011 Lausanne.

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February 2012

The unsolved puzzle of neuropathogenesis in glutaric aciduria type I.

Mol Genet Metab 2011 Dec 2;104(4):425-37. Epub 2011 Sep 2.

Inborn Errors of Metabolism, Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois and University of Lausanne, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2011.08.027DOI Listing
December 2011

Mitochondrial tRNA(Leu(UUR)) mutation m.3302A > G presenting as childhood-onset severe myopathy: threshold determination through segregation study.

J Inherit Metab Dis 2010 Dec 11;33 Suppl 3:S219-26. Epub 2010 May 11.

Division of Molecular Pediatrics, Centre Hospitalier Universitaire Vaudois, CI 02-35, Av P Decker 2, 1011 Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s10545-010-9098-2DOI Listing
December 2010

Sudden unexpected death in an infant with L-2-hydroxyglutaric aciduria.

Eur J Pediatr 2009 Aug 13;168(8):957-62. Epub 2008 Nov 13.

Department of Pediatrics, Child Neurology Unit, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1007/s00431-008-0869-9DOI Listing
August 2009

Early neurological impairment and severe anemia in a newborn with Pearson syndrome.

Eur J Pediatr 2009 Mar 14;168(3):311-5. Epub 2008 Jun 14.

Division of Neonatology, Department of Pediatrics, University Hospital and University of Lausanne, CHUV, 1011, Lausanne, Switzerland.

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http://link.springer.com/10.1007/s00431-008-0756-4
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http://dx.doi.org/10.1007/s00431-008-0756-4DOI Listing
March 2009

Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy.

Epilepsia 2008 Nov 9;49(11):1955-8. Epub 2008 May 9.

Pediatric Neurology and Neurorehabilitation Unit, Department of Pediatrics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland.

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http://dx.doi.org/10.1111/j.1528-1167.2008.01654.xDOI Listing
November 2008

Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency.

Mol Genet Metab 2008 Mar 3;93(3):295-305. Epub 2007 Dec 3.

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland.

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http://dx.doi.org/10.1016/j.ymgme.2007.10.004DOI Listing
March 2008

Clinical, biochemical, and molecular findings in three patients with 3-hydroxyisobutyric aciduria.

Mol Genet Metab 2006 Mar 8;87(3):243-8. Epub 2006 Feb 8.

Department of Clinical Chemistry and Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1016/j.ymgme.2005.09.019DOI Listing
March 2006

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2gene.

Eur J Pediatr 2005 Aug 12;164(8):509-14. Epub 2005 May 12.

Department of Paediatric Cardiology, University Children's Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland.

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https://www.researchgate.net/profile/Beat_Steinmann/publicat
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http://link.springer.com/10.1007/s00431-005-1678-z
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http://dx.doi.org/10.1007/s00431-005-1678-zDOI Listing
August 2005

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.

Mol Genet Metab 2004 Jan;81(1):45-51

Division of Clinical Chemistry and Biochemistry, University Children's Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland.

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January 2004

Mass spectrometric analysis of human transferrin in different body fluids.

Clin Chem Lab Med 2003 Dec;41(12):1580-8

Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1515/CCLM.2003.241DOI Listing
December 2003

Hydroxylated residues influence desensitization behaviour of recombinant alpha3 glycine receptor channels.

J Neurochem 2002 Oct;83(1):30-6

Institut für Biochemie, Emil-Fischer-Zentrum, Friedrich-Alexander-Universität Erlangen-Nürnberg, Fahrstrasse 17, D-91054 Erlangen, Germany.

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http://dx.doi.org/10.1046/j.1471-4159.2002.01109.xDOI Listing
October 2002