Matthias Baumgartner

Matthias Baumgartner

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Matthias Baumgartner

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In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.

Biochim Biophys Acta Mol Basis Dis 2020 Mar 23;1866(3):165622. Epub 2019 Nov 23.

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich, Switzerland; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Zurich, Switzerland; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2019.165622DOI Listing
March 2020

Mutations in MTHFR and POLG impaired activity of the mitochondrial respiratory chain in 46-year-old twins with spastic paraparesis.

J Hum Genet 2020 Jan 23;65(2):91-98. Epub 2019 Oct 23.

INSERM UMR_S 1256, NGERE-Nutrition, Genetics, and Environmental Risk Exposure and Reference Centre for Inherited Metabolic Diseases (ORPHA67872), University Hospital of Nancy and Faculty of Medicine of Nancy, University of Lorraine, Nancy, France.

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http://dx.doi.org/10.1038/s10038-019-0689-yDOI Listing
January 2020

Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria.

Mol Genet Metab 2019 12 17;128(4):444-451. Epub 2019 Oct 17.

Children's National Rare Disease Institute, Children's National Health System, Washington DC 20010, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2019.10.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6903684PMC
December 2019

Generation of human induced pluripotent stem cell line UNIGEi001-A from a 2-years old patient with Mucopolysaccharidosis type IH disease.

Stem Cell Res 2019 12 15;41:101604. Epub 2019 Oct 15.

Department of Pathology and Immunology, Faculty of Medicine, University of Geneva, Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.scr.2019.101604DOI Listing
December 2019

Vitamin B , folate, and the methionine remethylation cycle-biochemistry, pathways, and regulation.

J Inherit Metab Dis 2019 Jul 28;42(4):673-685. Epub 2019 Jan 28.

Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1002/jimd.12009DOI Listing
July 2019

The clinical presentation of cobalamin-related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways.

J Inherit Metab Dis 2019 Jul 13;42(4):686-705. Epub 2019 Feb 13.

Division of Metabolism and Children's Research Center, University Children's Hospital Zürich, Zürich, Switzerland.

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http://dx.doi.org/10.1002/jimd.12012DOI Listing
July 2019

B Vitamins: Small molecules, big effects.

J Inherit Metab Dis 2019 Jul 19;42(4):579-580. Epub 2019 Jun 19.

Division of Metabolism and Children's Research Centre, University Children's Hospital Zurich, Zürich, Switzerland.

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http://doi.wiley.com/10.1002/jimd.12127
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http://dx.doi.org/10.1002/jimd.12127DOI Listing
July 2019

Effects of Inadequate Amino Acid Mixture Intake on Nutrient Supply of Adult Patients with Phenylketonuria.

Ann Nutr Metab 2017 26;71(3-4):129-135. Epub 2017 Aug 26.

Division of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1159/000479746DOI Listing
June 2019

Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency.

Biochim Biophys Acta Mol Basis Dis 2019 06 22;1865(6):1265-1272. Epub 2019 Jan 22.

Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2019.01.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6525113PMC
June 2019

Glycemic control and complications in glycogen storage disease type I: Results from the Swiss registry.

Mol Genet Metab 2019 04 28;126(4):355-361. Epub 2019 Feb 28.

Department of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland; radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S10967192193003
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http://dx.doi.org/10.1016/j.ymgme.2019.02.008DOI 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 03 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

[The basics of lysosomal storage diseases].

Ther Umsch 2018 Nov;75(4):199-207

3 Universitätsspital Zürich, Klinik für Endokrinologie, Diabetologie und Klinische Ernährung, Zürich.

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https://econtent.hogrefe.com/doi/10.1024/0040-5930/a000990
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http://dx.doi.org/10.1024/0040-5930/a000990DOI Listing
November 2018

Disturbed sphingolipid metabolism with elevated 1-deoxysphingolipids in glycogen storage disease type I - A link to metabolic control.

Mol Genet Metab 2018 09 20;125(1-2):73-78. Epub 2018 Jul 20.

Division of Endocrinology, Diabetes, and Clinical Nutrition, University Hospital Zurich, Zurich, Switzerland; Radiz - Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2018.07.003DOI Listing
September 2018

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

Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2018 Jul;41(4):741-742

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital, Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-017-0116-5DOI Listing
July 2018

Manifestations of neurological symptoms and thromboembolism in adults with MTHFR-deficiency.

J Neurol Sci 2017 Dec 6;383:123-127. Epub 2017 Nov 6.

Division of Nephrology and Dialysis, Department of Medicine III, Medical University of Vienna, Vienna, Austria.

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http://dx.doi.org/10.1016/j.jns.2017.10.035DOI Listing
December 2017

Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria.

Hum Mutat 2017 08 6;38(8):988-1001. Epub 2017 Jun 6.

Division of Metabolism and Children's Research Center, University Children's, Hospital, Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.23251DOI Listing
August 2017

Methionine synthase and methionine synthase reductase interact with MMACHC and with MMADHC.

Biochim Biophys Acta Mol Basis Dis 2017 Jan 19;1863(1):103-112. Epub 2016 Oct 19.

UMR_S UL-Inserm U954 Nutrition-Genetics-Environmental Risk Exposure and Reference Centre of Inborn Metabolism Diseases, Medical Faculty of Nancy University and University Hospital Centre, Nancy, France. Electronic address:

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http://dx.doi.org/10.1016/j.bbadis.2016.10.016DOI Listing
January 2017

Laughing Gas in a Pediatric Emergency Department-Fun for All Participants: Vitamin B12 Status Among Medical Staff Working With Nitrous Oxide.

Pediatr Emerg Care 2016 Dec;32(12):827-829

From the *Department of Emergency Care, †Divisions of Metabolism, ‡Clinical Chemistry and Biochemistry, University Children's Hospital and Children's Research Center, Zurich, Switzerland.

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http://dx.doi.org/10.1097/PEC.0000000000000582DOI Listing
December 2016

Autism in patients with propionic acidemia.

Mol Genet Metab 2016 12 31;119(4):317-321. Epub 2016 Oct 31.

Department of Pediatrics, Metabolic Center, University Hospitals Leuven, Leuven, Belgium; Hayward Genetics Center, Tulane University School of Medicine, New Orleans, LA, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.10.009DOI Listing
December 2016

Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.

J Biol Chem 2016 09 12;291(39):20563-73. Epub 2016 Aug 12.

From the Division of Metabolism, the Children's Research Center, the radiz-Rare Disease Initiative Zurich, Clinical Research Priority Program for Rare Diseases, University of Zurich, 8006 Zurich, Switzerland, the Zurich Center for Integrative Human Physiology,

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5034050PMC
http://dx.doi.org/10.1074/jbc.M116.747717DOI Listing
September 2016

Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT.

Hum Mutat 2016 08 23;37(8):745-54. Epub 2016 May 23.

Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, CH-8032, Switzerland.

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http://dx.doi.org/10.1002/humu.23013DOI Listing
August 2016

Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.

Pediatr Int 2016 Aug 21;58(8):763-5. Epub 2016 Jun 21.

Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Switzerland.

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http://dx.doi.org/10.1111/ped.12953DOI Listing
August 2016

Exome Sequencing and the Management of Neurometabolic Disorders.

N Engl J Med 2016 Jun 25;374(23):2246-55. Epub 2016 May 25.

From the Centre for Molecular Medicine and Therapeutics (M.T.-G., C. Shyr, X.C.Y., L.-H.Z., J.J.Y.L., B.I.D., I.G., W.W.W., C.D.K.), the Departments of Medical Genetics (M.T.-G., C. Shyr, C.J.R., X.C.Y., J.J.Y.L., L.A., J.M.F., S.L., M.M., M.I.V.A., A.M.L., W.W.W.), Pediatrics (C.J.R., G.A.H., R.S., L.-H.Z., A.P.B., B.I.D., M.B.C., M.D., T.D., J.D., A. Michoulas, D.M., J.R., K.R.S., K.S., S.E.T., John Wu, S.S.-I., C.D.K.), and Pathology and Laboratory Medicine (B.R., P.E., H.V., G.S.), the Child and Family Research Institute (M.T.-G., C. Shyr, C.J.R., G.A.H., X.C.Y., A.P.B., J.J.Y.L., B.I.D., L.A., M.B.C., M.D., J.D., J.M.F., I.G., S.L., M.M., D.M., J.R., K.R.S., K.S., S.E.T., M.I.V.A., John Wu, P.E., A.M.L., H.V., S.S.-I., G.S., W.W.W., C.D.K.), and the Division of Endocrinology, Adult Metabolic Diseases Clinic (A. Mattman, S. Sirrs), University of British Columbia, and the Divisions of Biochemical Diseases (G.A.H., R.S., B.S., S.S.-I., C.D.K.), Pediatric Neurology (M.B.C., M.D., A. Michoulas, K.S.), Pediatric Nephrology (J.D.), Pediatric Endocrinology (D.M.), and Immunology (S.E.T.) and the Division of Hematology, Oncology and Transplantation, Michael Cuccione Childhood Cancer Research Program (J.R., K.R.S., John Wu), BC Children's Hospital, Vancouver, the Department of Pathology and Laboratory Medicine, Hospital for Sick Children, University of Toronto, Toronto (J.C.), the Department of Biological and Computing Sciences, University of Alberta (R.M., D.W.), and the National Institute for Nanotechnology (D.W.), Edmonton, AB, and the Department of Biomedical Physiology and Kinesiology, Simon Fraser University, Burnaby, BC (M. Abdelsayed, P.R.) - all in Canada; the Division of Genetics, Department of Pediatrics, King Saud Bin Abdulaziz University for Health Sciences, King Abdulaziz Medical City, Riyadh, Saudi Arabia (M. Alfadhel); the Division of Metabolism and Children's Research Center, University Children's Hospital Zurich, Zurich (M.R.B., P.B.), and the Departmen

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http://dx.doi.org/10.1056/NEJMoa1515792DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4983272PMC
June 2016

Impact of age at onset and newborn screening on outcome in organic acidurias.

J Inherit Metab Dis 2016 05 21;39(3):341-353. Epub 2015 Dec 21.

Department of General Pediatrics, Division of Neuropediatrics and Inherited Metabolic Diseases, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9907-8DOI Listing
May 2016

Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.

Hum Mutat 2016 May 18;37(5):427-38. Epub 2016 Mar 18.

Division of Metabolism and Children's Research Center, University Children's Hospital, Zürich, CH-8032, Switzerland.

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http://dx.doi.org/10.1002/humu.22970DOI Listing
May 2016

Recommendations and guidelines in the JIMD: suggested procedures and avoidance of conflicts of interest.

J Inherit Metab Dis 2016 05 1;39(3):327-329. Epub 2016 Apr 1.

Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, and Metabolic Department, Great Ormond Street Hospital, London, UK.

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http://dx.doi.org/10.1007/s10545-016-9931-3DOI Listing
May 2016

Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders.

J Inherit Metab Dis 2016 Mar 27;39(2):231-41. Epub 2015 Aug 27.

Centre for Paediatric and Adolescent Medicine, Division for Neuropaediatrics and Metabolic Medicine, Heidelberg University Hospital, Im Neuenheimer Feld 430, D-69120, Heidelberg, Germany.

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http://dx.doi.org/10.1007/s10545-015-9887-8DOI Listing
March 2016

Peer review fraud-it's not big and it's not clever.

J Inherit Metab Dis 2016 Jan 11;39(1):1-2. Epub 2015 Dec 11.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1007/s10545-015-9905-xDOI Listing
January 2016

Reversal of cardiomyopathy in propionic acidemia after liver transplantation: a 10-year follow-up.

Transpl Int 2015 Dec 11;28(12):1447-50. Epub 2015 Sep 11.

Department of Paediatrics, Inselspital, University Hospital Bern, Bern, Switzerland.

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http://doi.wiley.com/10.1111/tri.12677
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http://dx.doi.org/10.1111/tri.12677DOI Listing
December 2015

Structural Insights into the MMACHC-MMADHC Protein Complex Involved in Vitamin B12 Trafficking.

J Biol Chem 2015 Dec 19;290(49):29167-77. Epub 2015 Oct 19.

the Structural Genomics Consortium, Nuffield Department of Clinical Medicine, University of Oxford, Oxford OX3 7DQ, United Kingdom, and

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http://dx.doi.org/10.1074/jbc.M115.683268DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4705923PMC
December 2015

Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

J Inherit Metab Dis 2015 Nov 12;38(6):1007-19. Epub 2015 Mar 12.

Laboratory Clinical Biochemistry and Metabolism, Center for Pediatrics and Adolescent Medicine University Hospital, Freiburg, Freiburg, Germany.

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http://link.springer.com/10.1007/s10545-015-9830-z
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http://dx.doi.org/10.1007/s10545-015-9830-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4626539PMC
November 2015

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

J Inherit Metab Dis 2015 Nov;38(6):1157-8

Hospital San Joan de Deu, Servicio de Neurologia and CIBERER, ISCIII, Barcelona, Spain.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9868-y
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http://dx.doi.org/10.1007/s10545-015-9868-yDOI Listing
November 2015

Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study.

J Inherit Metab Dis 2015 Nov 25;38(6):1093-8. Epub 2015 Jun 25.

Division of Metabolism and Children's Research Center, University Children's Hospital, Zurich, Switzerland.

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http://link.springer.com/content/pdf/10.1007%2Fs10545-015-98
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http://link.springer.com/10.1007/s10545-015-9864-2
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http://dx.doi.org/10.1007/s10545-015-9864-2DOI Listing
November 2015

Quo vadis: the re-definition of "inborn metabolic diseases".

J Inherit Metab Dis 2015 Nov 29;38(6):1003-6. Epub 2015 Sep 29.

Division of Human Genetics, Medical University Innsbruck, Innsbruck, Austria.

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http://dx.doi.org/10.1007/s10545-015-9893-xDOI Listing
November 2015

Consanguinity and rare mutations outside of MCCC genes underlie nonspecific phenotypes of MCCD.

Genet Med 2015 Aug 6;17(8):660-7. Epub 2014 Nov 6.

1] Department of Pediatrics, Rady Children's Hospital, University of California, San Diego, La Jolla, California, USA [2] Clinical and Translational Research Institute, University of California, San Diego, La Jolla, California, USA [3] Institute for Genomic Medicine, University of California, San Diego, La Jolla, California, USA.

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http://dx.doi.org/10.1038/gim.2014.157DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4422778PMC
August 2015

Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.

Orphanet J Rare Dis 2015 Aug 27;10:104. Epub 2015 Aug 27.

Division of Metabolism, Connective Tissue Unit, University Children's Hospital Zurich and Children's Research Centre, Zurich, Switzerland.

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http://dx.doi.org/10.1186/s13023-015-0315-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4549897PMC
August 2015

Networking Across Borders for Individuals with Organic Acidurias and Urea Cycle Disorders: The E-IMD Consortium.

JIMD Rep 2015 22;22:29-38. Epub 2015 Feb 22.

Division of Inherited Metabolic Diseases, Department of General Pediatrics, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany,

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http://link.springer.com/10.1007/8904_2015_408
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http://dx.doi.org/10.1007/8904_2015_408DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4486274PMC
July 2015

Nephrotic syndrome and thrombotic microangiopathy caused by cobalamin C deficiency.

Pediatr Nephrol 2015 Jul 18;30(7):1203-6. Epub 2015 Apr 18.

University Children's Hospital Muenster, Muenster, NRW, Germany,

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http://dx.doi.org/10.1007/s00467-015-3110-xDOI Listing
July 2015

Successful Pregnancy in a Woman with Maple Syrup Urine Disease: Case Report.

JIMD Rep 2015 27;21:103-7. Epub 2015 Feb 27.

Division of Nutrition and Dietetics, University Hospital Basel, Basel, Switzerland,

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http://dx.doi.org/10.1007/8904_2014_401DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4470944PMC
June 2015

LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases.

Clin Biochem 2015 Jun 25;48(9):596-602. Epub 2015 Mar 25.

Division of Clinical Chemistry and Biochemistry, Children's Research Center, University Children's Hospital Zurich, Switzerland; Zurich Center for Integrative Human Physiology, University of Zurich, Zurich, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.clinbiochem.2015.03.007DOI Listing
June 2015

Complex lipids.

J Inherit Metab Dis 2015 Jan;38(1)

Bioclinic and Genetic Unit of Neurometabolic Diseases, Salpêtrière Hospital, (APHP), 75013, Paris, France,

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http://dx.doi.org/10.1007/s10545-014-9788-2DOI Listing
January 2015

Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency.

Hum Mutat 2014 Dec;35(12):1449-58

Division for Metabolic Disorders and Children's Research Center, University Children's Hospital, Zurich, Switzerland; Zurich Center for Integrative Human Physiology, University of Zurich, Switzerland.

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http://dx.doi.org/10.1002/humu.22633DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4441004PMC
December 2014

Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.

Orphanet J Rare Dis 2014 Oct 25;9:159. Epub 2014 Oct 25.

Department of Psychosomatics and Psychiatry, Children's Research Center and University Children's Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1186/s13023-014-0159-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4219016PMC
October 2014

Characterization of functional domains of the cblD (MMADHC) gene product.

J Inherit Metab Dis 2014 Sep 11;37(5):841-9. Epub 2014 Apr 11.

Division for Metabolic Disorders and Children's Research Center, University Children's Hospital, Steinweisstrasse 75, 8032, Zurich, Switzerland.

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http://dx.doi.org/10.1007/s10545-014-9709-4DOI Listing
September 2014

Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy.

Eur J Pediatr 2014 Jul 11;173(7):971-4. Epub 2014 Jun 11.

Division of Metabolic Diseases, University Children`s Hospital, Zurich, Switzerland,

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http://link.springer.com/10.1007/s00431-014-2359-6
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http://dx.doi.org/10.1007/s00431-014-2359-6DOI Listing
July 2014

Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.

Ann Clin Transl Neurol 2014 Jul 19;1(7):462-70. Epub 2014 Jun 19.

Telethon Institute of Genetics and Medicine Naples, Italy ; Department of Translational Medicine, Federico II University of Naples Naples, Italy.

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http://dx.doi.org/10.1002/acn3.73DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4184775PMC
July 2014

Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E.

Handb Clin Neurol 2013 ;113:1799-810

Division for Metabolic Disorders, University Children's Hospital, Zurich, Switzerland. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/B97804445956520
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http://dx.doi.org/10.1016/B978-0-444-59565-2.00049-6DOI Listing
March 2014

Rapid degradation of an active formylglycine generating enzyme variant leads to a late infantile severe form of multiple sulfatase deficiency.

Eur J Hum Genet 2013 Sep 16;21(9):1020-3. Epub 2013 Jan 16.

Department of Pediatrics and Pediatric Neurology, Georg August University Göttingen, Göttingen, Germany.

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http://dx.doi.org/10.1038/ejhg.2012.291DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3746267PMC
September 2013

One-year evaluation of a neonatal screening program for cystic fibrosis in Switzerland.

Dtsch Arztebl Int 2013 May 17;110(20):356-63. Epub 2013 May 17.

Institute of Social and Preventive Medicine, University of Bern, Switzerland.

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http://dx.doi.org/10.3238/arztebl.2013.0356DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3674539PMC
May 2013

Genetic basis of hyperlysinemia.

Orphanet J Rare Dis 2013 Apr 9;8:57. Epub 2013 Apr 9.

Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam, AZ 1105, The Netherlands.

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http://dx.doi.org/10.1186/1750-1172-8-57DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3626681PMC
April 2013

3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.

Orphanet J Rare Dis 2012 May 29;7:31. Epub 2012 May 29.

Division of Metabolism and Children's Research Center (CRC), University Children's Hospital Zurich, and Zürich Center for Integrative Human Physiology (ZHIP), University of Zürich, Steinwiesstraße 75, 8032, Zürich, Switzerland.

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http://dx.doi.org/10.1186/1750-1172-7-31DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3495011PMC
May 2012

A single mutation in MCCC1 or MCCC2 as a potential cause of positive screening for 3-methylcrotonyl-CoA carboxylase deficiency.

Mol Genet Metab 2012 Apr 31;105(4):602-6. Epub 2011 Dec 31.

Division of Metabolism and Children's Research Center, University Children's Hospital, Steinwiesstrasse 75, CH-8032 Zürich, Switzerland.

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http://linkinghub.elsevier.com/retrieve/pii/S109671921100660
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http://dx.doi.org/10.1016/j.ymgme.2011.12.018DOI Listing
April 2012

Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism.

Hum Mol Genet 2012 Mar 8;21(6):1410-8. Epub 2011 Dec 8.

Division of Metabolism, Children’s Research Center (CRC), University Children’s Hospital, Zu¨ rich, Switzerland.

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http://dx.doi.org/10.1093/hmg/ddr579DOI Listing
March 2012

Subacute bilateral visual loss in methylmalonic acidemia.

J Neuroophthalmol 2011 Dec;31(4):344-6

Department of Ophthalmology, University Hospital Zurich, Zurich, Switzerland.

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http://dx.doi.org/10.1097/WNO.0b013e31822db480DOI Listing
December 2011

CRIM-negative infantile Pompe disease: 42-month treatment outcome.

J Inherit Metab Dis 2010 Dec 30;33(6):751-7. Epub 2010 Sep 30.

Division of Metabolism, University Children's Hospital Zürich, Steinwiesstrasse 75, 8032 Zürich, Switzerland.

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http://dx.doi.org/10.1007/s10545-010-9209-0DOI Listing
December 2010