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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98809-9
By:
- Märtner, E. M. Charlotte;
- Thimm, Eva;
- Guder, Philipp;
- Schiergens, Katharina A.;
- Rutsch, Frank;
- Roloff, Sylvia;
- Marquardt, Iris;
- Das, Anibh M.;
- Freisinger, Peter;
- Grünert, Sarah C.;
- Krämer, Johannes;
- Baumgartner, Matthias R.;
- Beblo, Skadi;
- Haase, Claudia;
- Dieckmann, Andrea;
- Lindner, Martin;
- Näke, Andrea;
- Hoffmann, Georg F.;
- Mühlhausen, Chris;
- Walter, Magdalena
Publication type:
Article
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Published in:
2021
By:
- Märtner, E. M. Charlotte;
- Thimm, Eva;
- Guder, Philipp;
- Schiergens, Katharina A.;
- Rutsch, Frank;
- Roloff, Sylvia;
- Marquardt, Iris;
- Das, Anibh M.;
- Freisinger, Peter;
- Grünert, Sarah C.;
- Krämer, Johannes;
- Baumgartner, Matthias R.;
- Beblo, Skadi;
- Haase, Claudia;
- Dieckmann, Andrea;
- Lindner, Martin;
- Näke, Andrea;
- Hoffmann, Georg F.;
- Mühlhausen, Chris;
- Walter, Magdalena
Publication type:
Correction Notice
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Published in:
Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-98809-9
By:
- Märtner, E. M. Charlotte;
- Thimm, Eva;
- Guder, Philipp;
- Schiergens, Katharina A.;
- Rutsch, Frank;
- Roloff, Sylvia;
- Marquardt, Iris;
- Das, Anibh M.;
- Freisinger, Peter;
- Grünert, Sarah C.;
- Krämer, Johannes;
- Baumgartner, Matthias R.;
- Beblo, Skadi;
- Haase, Claudia;
- Dieckmann, Andrea;
- Lindner, Martin;
- Näke, Andrea;
- Hoffmann, Georg F.;
- Mühlhausen, Chris;
- Walter, Magdalena
Publication type:
Article
Delta1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
Published in:
2005
By:
- Baumgartner, Matthias R;
- Rabier, Daniel;
- Nassogne, Marie-Cécile;
- Dufier, Jean-Louis;
- Padovani, Jean-Paul;
- Kamoun, Pierre;
- Valle, David;
- Saudubray, Jean-Marie
Publication type:
journal article
?1-pyrroline-5-carboxylate synthase deficiency: neurodegeneration, cataracts and connective tissue manifestations combined with hyperammonaemia and reduced ornithine, citrulline, arginine and proline.
Published in:
European Journal of Pediatrics, 2005, v. 164, n. 1, p. 31, doi. 10.1007/s00431-004-1545-3
By:
- Baumgartner, Matthias R.;
- Rabier, Daniel;
- Nassogne, Marie-Cécile;
- Dufier, Jean-Louis;
- Padovani, Jean-Paul;
- Kamoun, Pierre;
- Valle, David;
- Saudubray, Jean-Marie
Publication type:
Article
Position statement on the role of healthcare professionals, patient organizations and industry in European Reference Networks.
Published in:
2016
By:
- Hollak, Carla E. M.;
- Biegstraaten, Marieke;
- Baumgartner, Matthias R.;
- Belmatoug, Nadia;
- Bembi, Bruno;
- Bosch, Annet;
- Brouwers, Martijn;
- Dekker, Hanka;
- Dobbelaere, Dries;
- Engelen, Marc;
- Groenendijk, Marike C.;
- Lachmann, Robin;
- Langendonk, Janneke G.;
- Langeveld, Mirjam;
- Linthorst, Gabor;
- Morava, Eva;
- Bwee Tien Poll-The;
- Rahman, Shamima;
- Rubio-Gozalbo, M. Estela;
- Spiekerkoetter, Ute
Publication type:
journal article
Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0315-9
By:
- Lindert, Uschi;
- Kraenzlin, Marius;
- Campos-Xavier, Ana Belinda;
- Baumgartner, Matthias R.;
- Bonafé, Luisa;
- Giunta, Cecilia;
- Rohrbach, Marianne
Publication type:
Article
Urinary pyridinoline cross-links as biomarkers of osteogenesis imperfecta.
Published in:
Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 104, doi. 10.1186/s13023-015-0315-9
By:
- Lindert, Uschi;
- Kraenzlin, Marius;
- Campos-Xavier, Ana Belinda;
- Baumgartner, Matthias R.;
- Bonafé, Luisa;
- Giunta, Cecilia;
- Rohrbach, Marianne
Publication type:
Article
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 161, doi. 10.1186/s13023-014-0161-1
By:
- Huemer, Martina;
- Scholl-Bürgi, Sabine;
- Hadaya, Karine;
- Kern, Ilse;
- Beer, Ronny;
- Seppi, Klaus;
- Fowler, Brian;
- Baumgartner, Matthias R;
- Karall, Daniela
Publication type:
Article
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0159-8
By:
- Zeltner, Nina A.;
- Huemer, Martina;
- Baumgartner, Matthias R.;
- Landolt, Markus A.
Publication type:
Article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Published in:
Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 1, doi. 10.1186/s13023-014-0130-8
By:
- Baumgartner, Matthias R.;
- Hörster, Friederike;
- Dionisi-Vici, Carlo;
- Haliloglu, Goknur;
- Karall, Daniela;
- Chapman, Kimberly A.;
- Huemer, Martina;
- Hochuli, Michel;
- Assoun, Murielle;
- Ballhausen, Diana;
- Burlina, Alberto;
- Fowler, Brian;
- Grünert, Sarah C.;
- Grünewald, Stephanie;
- Honzik, Tomas;
- Merinero, Begoña;
- Pérez-Cerdá, Celia;
- Scholl-Bürgi, Sabine;
- Skovby, Flemming;
- Wijburg, Frits
Publication type:
Article
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy.
Published in:
2014
By:
- Huemer, Martina;
- Scholl-Bürgi, Sabine;
- Hadaya, Karine;
- Kern, Ilse;
- Beer, Ronny;
- Seppi, Klaus;
- Fowler, Brian;
- Baumgartner, Matthias R;
- Karall, Daniela
Publication type:
journal article
Quality of life, psychological adjustment, and adaptive functioning of patients with intoxication-type inborn errors of metabolism - a systematic review.
Published in:
2014
By:
- Zeltner, Nina A;
- Huemer, Martina;
- Baumgartner, Matthias R;
- Landolt, Markus A
Publication type:
journal article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia.
Published in:
2014
By:
- Baumgartner, Matthias R;
- Hörster, Friederike;
- Dionisi-Vici, Carlo;
- Haliloglu, Goknur;
- Karall, Daniela;
- Chapman, Kimberly A;
- Huemer, Martina;
- Hochuli, Michel;
- Assoun, Murielle;
- Ballhausen, Diana;
- Burlina, Alberto;
- Fowler, Brian;
- Grünert, Sarah C;
- Grünewald, Stephanie;
- Honzik, Tomas;
- Merinero, Begoña;
- Pérez-Cerdá, Celia;
- Scholl-Bürgi, Sabine;
- Skovby, Flemming;
- Wijburg, Frits
Publication type:
journal article
Genetic basis of hyperlysinemia.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-57
By:
- Houten, Sander M.;
- Brinke, Heleen te;
- Denis, Simone;
- Ruiter, Jos P. N.;
- Knegt, Alida C.;
- de Klerk, Johannis B. C.;
- Augoustides-Savvopoulou, Persephone;
- Häberle, Johannes;
- Baumgartner, Matthias R.;
- Coskun, Turgay;
- Zschocke, Johannes;
- Sass, Jörn Oliver;
- Poll-The, Bwee Tien;
- Wanders, Ronald J. A.;
- Duran, Marinus
Publication type:
Article
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
Published in:
Orphanet Journal of Rare Diseases, 2013, v. 8, n. 1, p. 1, doi. 10.1186/1750-1172-8-6
By:
- Grünert, Sarah C;
- Müllerleile, Stephanie;
- De Silva, Linda;
- Barth, Michael;
- Walter, Melanie;
- Walter, Kerstin;
- Meissner, Thomas;
- Lindner, Martin;
- Ensenauer, Regina;
- Santer, René;
- Bodamer, Olaf A;
- Baumgartner, Matthias R;
- Brunner-Krainz, Michaela;
- Karall, Daniela;
- Haase, Claudia;
- Knerr, Ina;
- Marquardt, Thorsten;
- Hennermann, Julia B;
- Steinfeld, Robert;
- Beblo, Skadi
Publication type:
Article
Genetic basis of hyperlysinemia.
Published in:
2013
By:
- Houten, Sander M;
- Te Brinke, Heleen;
- Denis, Simone;
- Ruiter, Jos Pn;
- Knegt, Alida C;
- de Klerk, Johannis Bc;
- Augoustides-Savvopoulou, Persephone;
- Häberle, Johannes;
- Baumgartner, Matthias R;
- Coskun, Turgay;
- Zschocke, Johannes;
- Sass, Jörn Oliver;
- Poll-The, Bwee Tien;
- Wanders, Ronald Ja;
- Duran, Marinus;
- Coşkun, Turgay
Publication type:
journal article
Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients.
Published in:
2013
By:
- Grünert, Sarah C;
- Müllerleile, Stephanie;
- De Silva, Linda;
- Barth, Michael;
- Walter, Melanie;
- Walter, Kerstin;
- Meissner, Thomas;
- Lindner, Martin;
- Ensenauer, Regina;
- Santer, René;
- Bodamer, Olaf A;
- Baumgartner, Matthias R;
- Brunner-Krainz, Michaela;
- Karall, Daniela;
- Haase, Claudia;
- Knerr, Ina;
- Marquardt, Thorsten;
- Hennermann, Julia B;
- Steinfeld, Robert;
- Beblo, Skadi
Publication type:
journal article
3-methylcrotonyl-CoA carboxylase deficiency: Clinical, biochemical, enzymatic and molecular studies in 88 individuals.
Published in:
Orphanet Journal of Rare Diseases, 2012, v. 7, n. 1, p. 31, doi. 10.1186/1750-1172-7-31
By:
- Grünert, Sarah C;
- Stucki, Martin;
- Morscher, Raphael J;
- Suormala, Terttu;
- Bürer, Celine;
- Burda, Patricie;
- Christensen, Ernst;
- Ficicioglu, Can;
- Herwig, Jürgen;
- Kölker, Stefan;
- Möslinger, Dorothea;
- Pasquini, Elisabetta;
- Santer, René;
- Schwab, K Otfried;
- Wilcken, Bridget;
- Fowler, Brian;
- Yue, Wyatt W;
- Baumgartner, Matthias R
Publication type:
Article
Spectrum and characterization of bi-allelic variants in MMAB causing cblB-type methylmalonic aciduria.
Published in:
Human Genetics, 2022, v. 141, n. 7, p. 1253, doi. 10.1007/s00439-021-02398-6
By:
- Forny, Patrick;
- Plessl, Tanja;
- Frei, Caroline;
- Bürer, Celine;
- Froese, D. Sean;
- Baumgartner, Matthias R.
Publication type:
Article
Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.
Published in:
Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 4, p. 1, doi. 10.1002/mgg3.2443
By:
- Sen, Kuntal;
- Izem, Rima;
- Long, Yuelin;
- Jiang, Jiji;
- Konczal, Laura L.;
- McCarter, Robert J.;
- Mew, Nicholas Ah;
- Baumgartner, Matthias R.;
- Berry, Gerard;
- Berry, Susan A.;
- Burgard, Peter;
- Burrage, Lindsay C.;
- Cederbaum, Stephen;
- Coughlin, Curtis;
- Diaz, George A.;
- Enns, Gregory;
- Gallagher, Renata C.;
- Harding, Cary O.;
- Hoffmann, Georg F.;
- Le Mons, Cynthia
Publication type:
Article
Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.
Published in:
Pediatrics International, 2016, v. 58, n. 8, p. 763, doi. 10.1111/ped.12953
By:
- Adrovic, Amra;
- Canpolat, Nur;
- Caliskan, Salim;
- Sever, Lale;
- Kıykım, Ertugrul;
- Agbas, Ayse;
- Baumgartner, Matthias R
Publication type:
Article
Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12.
Published in:
Clinical Epigenetics, 2022, v. 14, n. 1, p. 1, doi. 10.1186/s13148-022-01271-1
By:
- Oussalah, Abderrahim;
- Siblini, Youssef;
- Hergalant, Sébastien;
- Chéry, Céline;
- Rouyer, Pierre;
- Cavicchi, Catia;
- Guerrini, Renzo;
- Morange, Pierre-Emmanuel;
- Trégouët, David;
- Pupavac, Mihaela;
- Watkins, David;
- Pastinen, Tomi;
- Chung, Wendy K.;
- Ficicioglu, Can;
- Feillet, François;
- Froese, D. Sean;
- Baumgartner, Matthias R.;
- Benoist, Jean-François;
- Majewski, Jacek;
- Morrone, Amelia
Publication type:
Article
Pyruvate Dehydrogenase Phosphatase Deficiency: Identification of the First Mutation in Two Brothers and Restoration of Activity by Protein Complementation.
Published in:
Journal of Clinical Endocrinology & Metabolism, 2005, v. 90, n. 7, p. 4101, doi. 10.1210/jc.2005-0123
By:
- Maj, Mary C.;
- MacKay, Neviana;
- Levandovskiy, Valeriy;
- Addis, Jane;
- Baumgartner, E. Regula;
- Baumgartner, Matthias R.;
- Robinson, Brian H.;
- Cameron, Jessie M.
Publication type:
Article
Non‐Hodgkin lymphoma in a kidney transplanted patient with methylmalonic acidemia: Metabolic susceptibility and the role of immunosuppression.
Published in:
Journal of Inherited Metabolic Disease Reports, 2024, v. 65, n. 2, p. 56, doi. 10.1002/jmd2.12411
By:
- Burlina, Alberto B.;
- Burlina, Alessandro P.;
- Mignani, Renzo;
- Cazzorla, Chiara;
- Gueraldi, Daniela;
- Puma, Andrea;
- Loro, Christian;
- Baumgartner, Matthias R.;
- Gragnaniello, Vincenza
Publication type:
Article
Decrease of disease‐related metabolites upon fasting in a hemizygous knock‐in mouse model (Mut‐ko/ki) of methylmalonic aciduria.
Published in:
Journal of Inherited Metabolic Disease Reports, 2021, v. 58, n. 1, p. 44, doi. 10.1002/jmd2.12182
By:
- Lucienne, Marie;
- Mathis, Déborah;
- Perkins, Nathan;
- Fingerhut, Ralph;
- Baumgartner, Matthias R.;
- Froese, D. Sean
Publication type:
Article
Key patient-reported outcomes in children and adolescents with intoxication-type inborn errors of metabolism: an international Delphi-based consensus.
Published in:
2022
By:
- Bösch, Florin;
- Zeltner, Nina A.;
- Baumgartner, Matthias R.;
- Huemer, Martina;
- Landolt, Markus A.
Publication type:
journal article
A systematic review of moral reasons on orphan drug reimbursement.
Published in:
2021
By:
- Zimmermann, Bettina M.;
- Eichinger, Johanna;
- Baumgartner, Matthias R.
Publication type:
journal article
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Published in:
Brain: A Journal of Neurology, 2014, v. 137, n. 5, p. 1350, doi. 10.1093/brain/awu051
By:
- Mills, Philippa B.;
- Camuzeaux, Stephane S.M.;
- Footitt, Emma J.;
- Mills, Kevin A.;
- Gissen, Paul;
- Fisher, Laura;
- Das, Krishna B.;
- Varadkar, Sophia M.;
- Zuberi, Sameer;
- McWilliam, Robert;
- Stödberg, Tommy;
- Plecko, Barbara;
- Baumgartner, Matthias R.;
- Maier, Oliver;
- Calvert, Sophie;
- Riney, Kate;
- Wolf, Nicole I.;
- Livingston, John H.;
- Bala, Pronab;
- Morel, Chantal F.
Publication type:
Article
Lower Healthcare Access and Its Association With Individual Factors and Health-Related Quality of Life in Adults With Rare Diseases in Switzerland.
Published in:
International Journal of Public Health (Frontiers Media S.A.), 2024, p. 1, doi. 10.3389/ijph.2024.1607548
By:
- Wehrli, Susanne;
- Dwyer, Andrew A.;
- Baumgartner, Matthias R.;
- Lehmann, Carmen;
- Landolt, Markus A.
Publication type:
Article
Predicting the disease severity in male individuals with ornithine transcarbamylase deficiency.
Published in:
Annals of Clinical & Translational Neurology, 2022, v. 9, n. 11, p. 1715, doi. 10.1002/acn3.51668
By:
- Scharre, Svenja;
- Posset, Roland;
- Garbade, Sven F.;
- Gleich, Florian;
- Seidl, Marie J.;
- Druck, Ann‐Catrin;
- Okun, Jürgen G.;
- Gropman, Andrea L.;
- Nagamani, Sandesh C. S.;
- Hoffmann, Georg F.;
- Kölker, Stefan;
- Zielonka, Matthias;
- Ah Mew, Nicholas;
- Baumgartner, Matthias R.;
- Berry, Gerard T.;
- Berry, Susan A.;
- Burrage, Lindsay;
- Diaz, George A.;
- Ficicioglu, Can;
- Kisin, Genya
Publication type:
Article
Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant.
Published in:
Annals of Clinical & Translational Neurology, 2019, v. 6, n. 6, p. 1072, doi. 10.1002/acn3.791
By:
- Royer‐Bertrand, Béryl;
- Tsouni, Pinelopi;
- Mullen, Patrick;
- Campos Xavier, Belinda;
- Mittaz Crettol, Lauréane;
- Lobrinus, Alexander J.;
- Ghika, Joseph;
- Baumgartner, Matthias R.;
- Rivolta, Carlo;
- Superti‐Furga, Andrea;
- Kuntzer, Thierry;
- Francklyn, Christopher;
- Tran, Christel
Publication type:
Article
Effects of Inadequate Amino Acid Mixture Intake on Nutrient Supply of Adult Patients with Phenylketonuria.
Published in:
Annals of Nutrition & Metabolism, 2018, v. 71, n. 3/4, p. 129, doi. 10.1159/000479746
By:
- Hochuli, Michel;
- Bollhalder, Sandra;
- Thierer, Carina;
- Refardt, Julie;
- Gerber, Philipp;
- Baumgartner, Matthias R.
Publication type:
Article
Reducing complexity: explaining inborn errors of metabolism and their treatment to children and adolescents.
Published in:
2019
By:
- Zeltner, Nina A.;
- Welsink-Karssies, Mendy M.;
- Landolt, Markus A.;
- Bosshard-Bullinger, Dominique;
- Keller, Fabia;
- Bosch, Annet M.;
- Groenendijk, Marike;
- Grünert, Sarah C.;
- Karall, Daniela;
- Rettenbacher, Beatrix;
- Scholl-Bürgi, Sabine;
- Baumgartner, Matthias R.;
- Huemer, Martina
Publication type:
journal article
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders.
Published in:
2019
By:
- Posset, Roland;
- Gropman, Andrea L.;
- Nagamani, Sandesh C. S.;
- Burrage, Lindsay C.;
- Bedoyan, Jirair K.;
- Wong, Derek;
- Berry, Gerard T.;
- Baumgartner, Matthias R.;
- Yudkoff, Marc;
- Zielonka, Matthias;
- Hoffmann, Georg F.;
- Burgard, Peter;
- Schulze, Andreas;
- McCandless, Shawn E.;
- Garcia‐Cazorla, Angeles;
- Seminara, Jennifer;
- Garbade, Sven F.;
- Kölker, Stefan;
- Lee, Brendan;
- Harding, Cary O.
Publication type:
journal article
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Published in:
2018
By:
- Boy, Nikolas;
- Mengler, Katharina;
- Thimm, Eva;
- Schiergens, Katharina A.;
- Marquardt, Thorsten;
- Weinhold, Natalie;
- Marquardt, Iris;
- Das, Anibh M.;
- Freisinger, Peter;
- Grünert, Sarah C.;
- Vossbeck, Judith;
- Steinfeld, Robert;
- Baumgartner, Matthias R.;
- Beblo, Skadi;
- Dieckmann, Andrea;
- Näke, Andrea;
- Lindner, Martin;
- Heringer, Jana;
- Hoffmann, Georg F.;
- Mühlhausen, Chris
Publication type:
journal article
Organic acidurias: Ingredients for precision medicine.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 369, doi. 10.1002/jimd.12614
By:
- Kölker, Stefan;
- Baumgartner, Matthias R.
Publication type:
Article
How guideline development has informed clinical research for organic acidurias (et vice versa).
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 520, doi. 10.1002/jimd.12586
By:
- Forny, Patrick;
- Hörster, Friederike;
- Baumgartner, Matthias R.;
- Kölker, Stefan;
- Boy, Nikolas
Publication type:
Article
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
Published in:
Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 482, doi. 10.1002/jimd.12566
By:
- Boy, Nikolas;
- Mühlhausen, Chris;
- Maier, Esther M.;
- Ballhausen, Diana;
- Baumgartner, Matthias R.;
- Beblo, Skadi;
- Burgard, Peter;
- Chapman, Kimberly A.;
- Dobbelaere, Dries;
- Heringer‐Seifert, Jana;
- Fleissner, Sandra;
- Grohmann‐Held, Karina;
- Hahn, Gabriele;
- Harting, Inga;
- Hoffmann, Georg F.;
- Jochum, Frank;
- Karall, Daniela;
- Konstantopoulous, Vassiliki;
- Krawinkel, Michael B.;
- Lindner, Martin
Publication type:
Article
Postauthorization safety study of betaine anhydrous.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 719, doi. 10.1002/jimd.12499
By:
- Mütze, Ulrike;
- Gleich, Florian;
- Garbade, Sven F.;
- Plisson, Céline;
- Aldámiz‐Echevarría, Luis;
- Arrieta, Francisco;
- Ballhausen, Diana;
- Zielonka, Matthias;
- Petković Ramadža, Danijela;
- Baumgartner, Matthias R.;
- Cano, Aline;
- García Jiménez, María Concepción;
- Dionisi‐Vici, Carlo;
- Ješina, Pavel;
- Blom, Henk J.;
- Couce, Maria Luz;
- Meavilla Olivas, Silvia;
- Mention, Karine;
- Mochel, Fanny;
- Morris, Andrew A. M.
Publication type:
Article
Untargeted plasma metabolomics identifies broad metabolic perturbations in glycogen storage disease type I.
Published in:
Journal of Inherited Metabolic Disease, 2022, v. 45, n. 2, p. 235, doi. 10.1002/jimd.12451
By:
- Mathis, Tamara;
- Poms, Martin;
- Köfeler, Harald;
- Gautschi, Matthias;
- Plecko, Barbara;
- Baumgartner, Matthias R.;
- Hochuli, Michel
Publication type:
Article
Mitochondrial damage in renal epithelial cells is potentiated by protein exposure in propionic aciduria.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1330, doi. 10.1002/jimd.12419
By:
- Schumann, Anke;
- Belche, Véronique;
- Schaller, Kristin;
- Grünert, Sarah C.;
- Kaech, Andres;
- Baumgartner, Matthias R.;
- Kölker, Stefan;
- Hannibal, Luciana;
- Spiekerkoetter, Ute
Publication type:
Article
Delineating the clinical spectrum of isolated methylmalonic acidurias: cblA and mut.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 193, doi. 10.1002/jimd.12297
By:
- Hörster, Friederike;
- Tuncel, Ali Tunç;
- Gleich, Florian;
- Plessl, Tanja;
- Froese, Sean D.;
- Garbade, Sven F.;
- Kölker, Stefan;
- Baumgartner, Matthias R.
Publication type:
Article
Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 677, doi. 10.1002/jimd.12338
By:
- Kožich, Viktor;
- Sokolová, Jitka;
- Morris, Andrew A. M.;
- Pavlíková, Markéta;
- Gleich, Florian;
- Kölker, Stefan;
- Krijt, Jakub;
- Dionisi‐Vici, Carlo;
- Baumgartner, Matthias R.;
- Blom, Henk J.;
- Huemer, Martina;
- Aldámiz‐Echevarría, Luis;
- Arantes, Rodrigo Rezende;
- Arrieta, Francisco;
- Blasco‐Alonso, Javier;
- Brouwers, Martijn;
- Brunner‐Krainz, Michaela;
- Bueno, María;
- Peláez, Rosa Burgos;
- Cano, Aline
Publication type:
Article
Impact of interventional and non‐interventional variables on anthropometric long‐term development in glutaric aciduria type 1: A national prospective multi‐centre study.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 629, doi. 10.1002/jimd.12335
By:
- Märtner, E. M. Charlotte;
- Maier, Esther M.;
- Mengler, Katharina;
- Thimm, Eva;
- Schiergens, Katharina A.;
- Marquardt, Thorsten;
- Santer, René;
- Weinhold, Natalie;
- Marquardt, Iris;
- Das, Anibh M.;
- Freisinger, Peter;
- Grünert, Sarah C.;
- Vossbeck, Judith;
- Steinfeld, Robert;
- Baumgartner, Matthias R.;
- Beblo, Skadi;
- Dieckmann, Andrea;
- Näke, Andrea;
- Lindner, Martin;
- Heringer‐Seifert, Jana
Publication type:
Article
Health‐related quality of life in paediatric patients with intoxication‐type inborn errors of metabolism: Analysis of an international data set.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 215, doi. 10.1002/jimd.12301
By:
- Bösch, Florin;
- Landolt, Markus A.;
- Baumgartner, Matthias R.;
- Zeltner, Nina;
- Kölker, Stefan;
- Gleich, Florian;
- Burlina, Alberto;
- Cazzorla, Chiara;
- Packman, Wendy;
- V. D. Schwartz, Ida;
- Neto, Eduardo;
- Ribeiro, Márcia G.;
- Martinelli, Diego;
- Olivieri, Giorgia;
- Huemer, Martina
Publication type:
Article
Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise.
Published in:
Journal of Inherited Metabolic Disease, 2021, v. 44, n. 1, p. 9, doi. 10.1002/jimd.12254
By:
- Dimitrov, Bianca;
- Molema, Femke;
- Williams, Monique;
- Schmiesing, Jessica;
- Mühlhausen, Chris;
- Baumgartner, Matthias R.;
- Schumann, Anke;
- Kölker, Stefan
Publication type:
Article
The clinical presentation of cobalamin‐related disorders: From acquired deficiencies to inborn errors of absorption and intracellular pathways.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 4, p. 686, doi. 10.1002/jimd.12012
By:
- Huemer, Martina;
- Baumgartner, Matthias R.
Publication type:
Article
Vitamin B12, folate, and the methionine remethylation cycle—biochemistry, pathways, and regulation.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 4, p. 673, doi. 10.1002/jimd.12009
By:
- Froese, D. Sean;
- Fowler, Brian;
- Baumgartner, Matthias R.
Publication type:
Article
Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry.
Published in:
Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 333, doi. 10.1002/jimd.12041
By:
- Huemer, Martina;
- Diodato, Daria;
- Martinelli, Diego;
- Olivieri, Giorgia;
- Blom, Henk;
- Gleich, Florian;
- Kölker, Stefan;
- Kožich, Viktor;
- Morris, Andrew A.;
- Seifert, Burkhardt;
- Froese, D. Sean;
- Baumgartner, Matthias R.;
- Dionisi‐Vici, Carlo;
- Martin, Carlos Alcalde;
- Baethmann, Martina;
- Ballhausen, Diana;
- Blasco‐Alonso, Javier;
- Boy, Nikolas;
- Bueno, Maria;
- Burgos Peláez, Rosa
Publication type:
Article

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