Matthias R. Baumgartner

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David CoelhoInserm U1256Bestätigte E-Mail-Adresse bei inserm.fr
Sean FroeseUniversity Children's Hospital, ZurichBestätigte E-Mail-Adresse bei kispi.uzh.ch
Cecilia GiuntaPhD, Connective Tissue Unit, Division of metabolism and Children's Research Center, UniversityBestätigte E-Mail-Adresse bei kispi.uzh.ch
Johannes HäberleUniversity Children's Hospital Zurich, Zurich, SwitzerlandBestätigte E-Mail-Adresse bei kispi.uzh.ch
Beat SteinmannProf. PädiatrieBestätigte E-Mail-Adresse bei kispi.uzh.ch
Frank RutschProfessor of Pediatrics, Muenster University Children's HospitalBestätigte E-Mail-Adresse bei ukmuenster.de
Manuel SchiffBestätigte E-Mail-Adresse bei aphp.fr
Vassili ValayannopoulosCentre de Référence Maladies Métaboliques- Hôpital Necker-Enfants MaladesBestätigte E-Mail-Adresse bei nck.aphp.fr
Markus A. LandoltProfessor, University Children's Hospital Zurich and Department of Psychology, University of Zurich, SwitzerlandBestätigte E-Mail-Adresse bei kispi.uzh.ch
Nanda Verhoeven DuifUMC UtrechtBestätigte E-Mail-Adresse bei umcutrecht.nl
Isabelle MiousseAssistant Professor, University of Arkansas for Medical SciencesBestätigte E-Mail-Adresse bei uams.edu
Patrick FornyUniversity Children's Hospital ZurichBestätigte E-Mail-Adresse bei kispi.uzh.ch
Nenad BlauUniversity Children's Hospital Zürich, SwitzerlandBestätigte E-Mail-Adresse bei uitikon.ch
Sven F. GarbadeStatistical Coordinator at Division for Neuropediatrics and Metabolic MedicineBestätigte E-Mail-Adresse bei med.uni-heidelberg.de
Bruno BembiDirector Regional Coordinator Centre for Rare Diseases, University Hospital of Udine, ItalyBestätigte E-Mail-Adresse bei aoud.sanita.fvg.it
Beat ThönyProfessor of Clincial Biochemistry, Department of Pediatrics, University of Zürich, SwitzerlandBestätigte E-Mail-Adresse bei kispi.uzh.ch
Shamima RahmanProfessor of Paediatric Metabolic Medicine, UCLBestätigte E-Mail-Adresse bei ucl.ac.uk
Michel A.A.P. WillemsenProfessor of pediatric neurology, Radboudumc, Nijmegen, The NetherlandsBestätigte E-Mail-Adresse bei radboudumc.nl
Richard RodenburgClinical Laboratory GeneticistBestätigte E-Mail-Adresse bei radboudumc.nl
Corina S. RueeggDepartment of Biostatistics, University of OsloBestätigte E-Mail-Adresse bei medisin.uio.no

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Matthias R. Baumgartner

University Children's Hospital Zürich

Bestätigte E-Mail-Adresse bei kispi.uzh.ch

inborn errors of metabolism vitamin B12 methylmalonic acid homocysteine


Titel Nach Zitationen sortieren Nach Jahr sortieren Nach Titel sortieren	Zitiert von Zitiert von	Jahr
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia MR Baumgartner, F Hörster, C Dionisi-Vici, G Haliloglu, D Karall, ... Orphanet journal of rare diseases 9, 1-36, 2014	649	2014
Mutations in antiquitin in individuals with pyridoxine-dependent seizures PB Mills, E Struys, C Jakobs, B Plecko, P Baxter, M Baumgartner, ... Nature medicine 12 (3), 307-309, 2006	568	2006
Exome sequencing and the management of neurometabolic disorders M Tarailo-Graovac, C Shyr, CJ Ross, GA Horvath, R Salvarinova, XC Ye, ... New England Journal of Medicine 374 (23), 2246-2255, 2016	311	2016
Recommendations on the diagnosis and management of Niemann-Pick disease type C JE Wraith, MR Baumgartner, B Bembi, A Covanis, T Levade, E Mengel, ... Molecular genetics and metabolism 98 (1-2), 152-165, 2009	298	2009
Causes of and diagnostic approach to methylmalonic acidurias B Fowler, JV Leonard, MR Baumgartner Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2008	267	2008
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut−, cblA, cblB) F Hörster, MR Baumgartner, C Viardot, T Suormala, P Burgard, B Fowler, ... Pediatric research 62 (2), 225-230, 2007	267	2007
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation S Kölker, AG Cazorla, V Valayannopoulos, AM Lund, AB Burlina, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015	258	2015
Mutations in ABCD4 cause a new inborn error of vitamin B₁₂ metabolism D Coelho, JC Kim, IR Miousse, S Fung, M du Moulin, I Buers, T Suormala, ... Nature genetics 44 (10), 1152-1155, 2012	253	2012
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency M Huemer, D Diodato, B Schwahn, M Schiff, A Bandeira, JF Benoist, ... Journal of inherited metabolic disease 40, 21-48, 2017	251	2017
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype S Kölker, V Valayannopoulos, AB Burlina, J Sykut-Cegielska, FA Wijburg, ... Journal of inherited metabolic disease 38, 1059-1074, 2015	245	2015
Treatment recommendations in long‐chain fatty acid oxidation defects: consensus from a workshop U Spiekerkoetter, M Lindner, R Santer, M Grotzke, MR Baumgartner, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009	234	2009
Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome JA Mayr, TB Haack, E Graf, FA Zimmermann, T Wieland, B Haberberger, ... The American Journal of Human Genetics 90 (2), 314-320, 2012	228	2012
Identification of a putative lysosomal cobalamin exporter altered in the cblF defect of vitamin B₁₂ metabolism F Rutsch, S Gailus, IR Miousse, T Suormala, C Sagné, MR Toliat, ... Nature genetics 41 (2), 234-239, 2009	228	2009
Gene identification for the cblD defect of vitamin B12 metabolism D Coelho, T Suormala, M Stucki, JP Lerner-Ellis, DS Rosenblatt, ... New England Journal of Medicine 358 (14), 1454-1464, 2008	212	2008
Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype–phenotype correlations JP Lerner‐Ellis, N Anastasio, J Liu, D Coelho, T Suormala, M Stucki, ... Human mutation 30 (7), 1072-1081, 2009	207	2009
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome PB Mills, SSM Camuzeaux, EJ Footitt, KA Mills, P Gissen, L Fisher, ... Brain 137 (5), 1350-1360, 2014	192	2014
Management and outcome in 75 individuals with long‐chain fatty acid oxidation defects: results from a workshop U Spiekerkoetter, M Lindner, R Santer, M Grotzke, MR Baumgartner, ... Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2009	181	2009
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients SC Grünert, S Müllerleile, L De Silva, M Barth, M Walter, K Walter, ... Orphanet journal of rare diseases 8, 1-9, 2013	174	2013
Clinical presentation and outcome in a series of 88 patients with the cblC defect S Fischer, M Huemer, M Baumgartner, F Deodato, D Ballhausen, A Boneh, ... Journal of inherited metabolic disease 37, 831-840, 2014	159	2014
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis T Suormala, MR Baumgartner, D Coelho, P Zavadakova, V Kozich, ... Journal of Biological Chemistry 279 (41), 42742-42749, 2004	155	2004

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