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ArticlesPeer ReviewedFull Text
Diagnosis and management of glutaric aciduria type I – revised recommendations
Author / Creator:Kölker, Stefan ; Christensen, Ernst ; Leonard, James V. ; Greenberg, Cheryl R. ; Boneh, Avihu ; Burlina, Alberto B. ; Burlina, Alessandro P. ; Dixon, Marjorie ; Duran, Marinus ; García Cazorla, Angels ; Goodman, Stephen I. ; Koeller, David M. ; Kyllerman, Mårten ; Mühlhausen, Chris ; Müller, Edith ; Okun, Jürgen G. ; Wilcken, Bridget ; Hoffmann, Georg F. ; Burgard, Peter
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2011-06, Vol.34 (3), p.677-694
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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Author / Creator: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 ; Garbade, Sven F. ; Maier, Esther M. ; Kölker, Stefan ; Boy, Nikolas
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-09, Vol.11 (1), p.19300-19300, Article 19300
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Impact of age at onset and newborn screening on outcome in organic acidurias
Author / Creator:Heringer, Jana ; Valayannopoulos, Vassili ; Lund, Allan M. ; Wijburg, Frits A. ; Freisinger, Peter ; Barić, Ivo ; Baumgartner, Matthias R. ; Burgard, Peter ; Burlina, Alberto B. ; Chapman, Kimberly A. ; i Saladelafont, Elisenda Cortès ; Karall, Daniela ; Mühlhausen, Chris ; Riches, Victoria ; Schiff, Manuel ; Sykut-Cegielska, Jolanta ; Walter, John H. ; Zeman, Jiri ; Chabrol, Brigitte ; Kölker, Stefan
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-05, Vol.39 (3), p.341-353
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Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease
Author / Creator:Sofou, Kalliopi ; Meier, Kolja ; Sanderson, Leslie E ; Kaminski, Debora ; Montoliu‐Gaya, Laia ; Samuelsson, Emma ; Blomqvist, Maria ; Agholme, Lotta ; Gärtner, Jutta ; Mühlhausen, Chris ; Darin, Niklas ; Barakat, Tahsin Stefan ; Schlotawa, Lars ; van Ham, Tjakko ; Asin Cayuela, Jorge ; Sterky, Fredrik H
Publisher:London: Nature Publishing Group UK
Journal title:EMBO molecular medicine, 2021-05, Vol.13 (5), p.e13376-n/a
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Interaction of Glutaric Aciduria Type 1-Related glutaryl-CoA Dehydrogenase with Mitochondrial Matrix Proteins
Author / Creator:Schmiesing, Jessica ; Schlüter, Hartmut ; Ullrich, Kurt ; Braulke, Thomas ; Mühlhausen, Chris
Publisher:United States: Public Library of Science
Journal title:PloS one, 2014-02, Vol.9 (2), p.e87715-e87715
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Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Author / Creator: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 ; Garbade, Sven F. ; Maier, Esther M. ; Kölker, Stefan ; Boy, Nikolas
Publisher:London: Nature Publishing Group UK
Journal title:Scientific reports, 2021-10, Vol.11 (1), p.20618-20618, Article 20618
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Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombop...
Author / Creator:Mühlhausen, Chris ; Henneke, Lisa ; Schlotawa, Lars ; Behme, Daniel ; Grüneberg, Marianne ; Gärtner, Jutta ; Marquardt, Thorsten
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2020-09, Vol.55 (1), p.38-43
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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision
Author / Creator:Boy, Nikolas ; Mühlhausen, Chris ; Maier, Esther M. ; Heringer, Jana ; Assmann, Birgit ; Burgard, Peter ; Dixon, Marjorie ; Fleissner, Sandra ; Greenberg, Cheryl R. ; Harting, Inga ; Hoffmann, Georg F. ; Karall, Daniela ; Koeller, David M. ; Krawinkel, Michael B. ; Okun, Jürgen G. ; Opladen, Thomas ; Posset, Roland ; Sahm, Katja ; Zschocke, Johannes ; Kölker, Stefan
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-01, Vol.40 (1), p.75-101
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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Author / Creator:Posset, Roland ; Garcia-Cazorla, Angeles ; Valayannopoulos, Vassili ; Teles, Elisa Leão ; Dionisi-Vici, Carlo ; Brassier, Anaïs ; Burlina, Alberto B. ; Burgard, Peter ; Cortès-Saladelafont, Elisenda ; Dobbelaere, Dries ; Couce, Maria L. ; Sykut-Cegielska, Jolanta ; Häberle, Johannes ; Lund, Allan M. ; Chakrapani, Anupam ; Schiff, Manuel ; Walter, John H. ; Zeman, Jiri ; Vara, Roshni ; Kölker, Stefan
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-09, Vol.39 (5), p.661-672
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Behavioural and emotional problems, intellectual impairment and health-related quality of life in patients with organic acidurias and urea cycle disorders
Author / Creator:Jamiolkowski, Dagmar ; Kölker, Stefan ; Glahn, Esther M. ; Barić, Ivo ; Zeman, Jiri ; Baumgartner, Matthias R. ; Mühlhausen, Chris ; Garcia-Cazorla, Angels ; Gleich, Florian ; Haege, Gisela ; Burgard, Peter
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.231-241
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ArticlesPeer ReviewedFull Text
Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment
Author / Creator:Mühlhausen, Chris ; Salomons, Gajja S. ; Lukacs, Zoltan ; Struys, Eduard A. ; van der Knaap, Marjo S. ; Ullrich, Kurt ; Santer, René
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2014-09, Vol.37 (5), p.775-781
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Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters
Author / Creator:Boy, Nikolas ; Haege, Gisela ; Heringer, Jana ; Assmann, Birgit ; Mühlhausen, Chris ; Ensenauer, Regina ; Maier, Esther M. ; Lücke, Thomas ; Hoffmann, Georg F. ; Müller, Edith ; Burgard, Peter ; Kölker, Stefan
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2013-05, Vol.36 (3), p.525-533
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Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias
Author / Creator:Hagos, Yohannes ; Krick, Wolfgang ; Braulke, Thomas ; Mühlhausen, Chris ; Burckhardt, Gerhard ; Burckhardt, Birgitta C.
Publisher:Berlin/Heidelberg: Springer-Verlag
Journal title:Pflügers Archiv, 2008-10, Vol.457 (1), p.223-231
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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases
Author / Creator:Posset, Roland ; Garbade, Sven F. ; Boy, Nikolas ; Burlina, Alberto B. ; Dionisi-Vici, Carlo ; Dobbelaere, Dries ; Garcia-Cazorla, Angeles ; de Lonlay, Pascale ; Teles, Elisa Leão ; Vara, Roshni ; Ah Mew, Nicholas ; Batshaw, Mark L. ; Baumgartner, Matthias R. ; McCandless, Shawn ; Seminara, Jennifer ; Summar, Marshall ; Hoffmann, Georg F. ; Kölker, Stefan ; Burgard, Peter
Publisher:United States: Blackwell Publishing Ltd
Journal title:Journal of inherited metabolic disease, 2018-07, p.1-13
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Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Author / Creator:Posset, Roland ; Garcia-Cazorla, Angeles ; Valayannopoulos, Vassili ; Leão Teles, Elisa ; Dionisi-Vici, Carlo ; Brassier, Anaïs ; Burlina, Alberto B. ; Burgard, Peter ; Cortès-Saladelafont, Elisenda ; Dobbelaere, Dries ; Couce, Maria L. ; Sykut-Cegielska, Jolanta ; Häberle, Johannes ; Lund, Allan M. ; Chakrapani, Anupam ; Schiff, Manuel ; Walter, John H. ; Zeman, Jiri ; Vara, Roshni ; Kölker, Stefan
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.743-744
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ArticlesPeer ReviewedFull Text
Correction to: Impact of age at onset and newborn screening on outcome in organic acidurias
Author / Creator:Heringer, Jana ; Valayannopoulos, Vassili ; Lund, Allan M. ; Wijburg, Frits A. ; Freisinger, Peter ; Barić, Ivo ; Baumgartner, Matthias R. ; Burgard, Peter ; Burlina, Alberto B. ; Chapman, Kimberly A. ; i Saladelafont, Elisenda Cortès ; Karall, Daniela ; Mühlhausen, Chris ; Riches, Victoria ; Schiff, Manuel ; Sykut-Cegielska, Jolanta ; Walter, John H. ; Zeman, Jiri ; Chabrol, Brigitte ; Kölker, Stefan
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2018-07, Vol.41 (4), p.741-742
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ArticlesPeer ReviewedFull Text
3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3
Author / Creator:Stellmer, Franziska ; Keyser, Britta ; Burckhardt, Birgitta C. ; Koepsell, Hermann ; Streichert, Thomas ; Glatzel, Markus ; Jabs, Sabrina ; Thiem, Joachim ; Herdering, Wilhelm ; Koeller, David M. ; Goodman, Stephen I. ; Lukacs, Zoltan ; Ullrich, Kurt ; Burckhardt, Gerhard ; Braulke, Thomas ; Mühlhausen, Chris
Publisher:Berlin: Springer
Journal title:Journal of molecular medicine (Berlin, Germany), 2007-07, Vol.85 (7), p.763-770
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ReportsFull Text
Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombop...
Author / Creator:Mühlhausen, Chris ; Henneke, Lisa ; Schlotawa, Lars ; Behme, Daniel ; Grüneberg, Marianne ; Gärtner, Jutta ; Marquardt, Thorsten
Journal title:JIMD reports, 2020, Vol.55 (1), p.38-43
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Diagnosis and management of glutaric aciduria type I – revised recommendations

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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

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

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Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

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Interaction of Glutaric Aciduria Type 1-Related glutaryl-CoA Dehydrogenase with Mitochondrial Matrix Proteins

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Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study

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Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombop...

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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision

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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

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

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Combined D2-/L2-hydroxyglutaric aciduria (SLC25A1 deficiency): clinical course and effects of citrate treatment

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Low lysine diet in glutaric aciduria type I – effect on anthropometric and biochemical follow-up parameters

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Organic anion transporters OAT1 and OAT4 mediate the high affinity transport of glutarate derivatives accumulating in patients with glutaric acidurias

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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

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Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders

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

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3-Hydroxyglutaric acid is transported via the sodium-dependent dicarboxylate transporter NaDC3

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Mannose phosphate isomerase deficiency-congenital disorder of glycosylation (MPI-CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombop...

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