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Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases
Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases
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Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases

Kölker, Stefan

Journal of inherited metabolic disease, 2018-12, Vol.41 (6), p.1055-1063 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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2
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
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Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency

Luciani, Alessandro ; Schumann, Anke ; Berquez, Marine ; Chen, Zhiyong ; Nieri, Daniela ; Failli, Mario ; Debaix, Huguette ; Festa, Beatrice Paola ; Tokonami, Natsuko ; Raimondi, Andrea ; Cremonesi, Alessio ; Carrella, Diego ; Forny, Patrick ; Kölker, Stefan ; Diomedi Camassei, Francesca ; Diaz, Francisca ; Moraes, Carlos T ; Di Bernardo, Diego ; Baumgartner, Matthias R ; Devuyst, Olivier

Nature communications, 2020-02, Vol.11 (1), p.970-970, Article 970 [Periódico revisado por pares]

England: Nature Publishing Group

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3
Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience
Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience
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Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience

Kölker, Stefan ; Gleich, Florian ; Mütze, Ulrike ; Opladen, Thomas

Frontiers in endocrinology (Lausanne), 2022-03, Vol.13, p.832063-832063 [Periódico revisado por pares]

Switzerland: Frontiers Media S.A

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4
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases
Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases
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Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases

Saffari, Afshin ; Kölker, Stefan ; Hoffmann, Georg F. ; Ebrahimi-Fakhari, Darius

Journal of inherited metabolic disease, 2017-09, Vol.40 (5), p.631-640 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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5
Evaluierung und Optimierung des Neugeborenenscreenings mittels strukturierter Langzeitbeobachtung – am Beispiel der angeborenen Stoffwechselerkrankungen
Evaluierung und Optimierung des Neugeborenenscreenings mittels strukturierter Langzeitbeobachtung – am Beispiel der angeborenen Stoffwechselerkrankungen
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Evaluierung und Optimierung des Neugeborenenscreenings mittels strukturierter Langzeitbeobachtung – am Beispiel der angeborenen Stoffwechselerkrankungen

Mütze, Ulrike ; Kölker, Stefan

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz, 2023, Vol.66 (11), p.1249-1258 [Periódico revisado por pares]

Berlin/Heidelberg: Springer Berlin Heidelberg

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6
Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data
Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data
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Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

Molema, Femke ; Martinelli, Diego ; Hörster, Friederike ; Kölker, Stefan ; Tangeraas, Trine ; Koning, Barbara ; Dionisi‐Vici, Carlo ; Williams, Monique

Journal of inherited metabolic disease, 2021-05, Vol.44 (3), p.593-605 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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7
Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years
Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years
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Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years

Burgard, Peter ; Kölker, Stefan ; Haege, Gisela ; Lindner, Martin ; Hoffmann, Georg F.

Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.219-229 [Periódico revisado por pares]

Dordrecht: Springer Netherlands

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8
Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex
Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex
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Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex

Ebrahimi-Fakhari, Darius ; Saffari, Afshin ; Wahlster, Lara ; Di Nardo, Alessia ; Turner, Daria ; Lewis, Tommy L. ; Conrad, Christopher ; Rothberg, Jonathan M. ; Lipton, Jonathan O. ; Kölker, Stefan ; Hoffmann, Georg F. ; Han, Min-Joon ; Polleux, Franck ; Sahin, Mustafa

Cell reports (Cambridge), 2016-10, Vol.17 (4), p.1053-1070 [Periódico revisado por pares]

United States: Elsevier Inc

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9
How longitudinal observational studies can guide screening strategy for rare diseases
How longitudinal observational studies can guide screening strategy for rare diseases
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How longitudinal observational studies can guide screening strategy for rare diseases

Mütze, Ulrike ; Mengler, Katharina ; Boy, Nikolas ; Gleich, Florian ; Opladen, Thomas ; Garbade, Sven F. ; Kölker, Stefan

Journal of inherited metabolic disease, 2022-09, Vol.45 (5), p.889-901 [Periódico revisado por pares]

Hoboken, USA: John Wiley & Sons, Inc

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10
Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
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Newborn screening: A disease‐changing intervention for glutaric aciduria type 1

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 ; Maier, Esther M. ; Ensenauer, Regina ; Garbade, Sven F. ; Kölker, Stefan

Annals of neurology, 2018-05, Vol.83 (5), p.970-979 [Periódico revisado por pares]

United States: Wiley Subscription Services, Inc

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