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| 1. |
Märtner, E.M. Charlotte: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1 : a national prospective follow-up study / E.M. Charlotte Märtner, Eva Thimm, Philipp Guder, Katharina A. Schiergens, Frank Rutsch, Sylvia Rolo… , 29 September 2021. - 12 S.
In: Scientific reports, ISSN 2045-2322. 11(2021), Artikel-ID 19300, Seite 1-12
DOI: 10.1038/s41598-021-98809-9
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| 2. |
Boy, Nikolas: Newborn screening : a disease-changing intervention for glutaric aciduria type 1 / Nikolas Boy, Katharina Mengler, Eva Thimm, Katharina A. Schiergens, Thorsten Marquardt, Natalie Wein… , 17 April 2018. - 10 S.
In: Annals of neurology, ISSN 1531-8249. 83(2018), 5, Seite 970-979
DOI: 10.1002/ana.25233
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Boy, Nikolas: Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1 : a meta-analysis / Nikolas Boy, MD, Katharina Mengler, MD, Jana Heringer-Seifert, MD, Georg F. Hoffmann, MD, Sven F. G… , 2021. - 9 S.
In: Genetics in medicine, ISSN 1530-0366. 23(2021), 1, Seite 13-21
DOI: 10.1038/s41436-020-00971-4
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| 4. |
Boy, Nikolas: Subdural hematoma in glutaric aciduria type 1 : high excreters are prone to incidental SDH despite newborn screening / Nikolas Boy, Alexander Mohr, Sven F. Garbade, Peter Freisinger, Jana Heringer-Seifert, Angelika Seit… , 2021
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 6, Seite 1343-1352$10
DOI: 10.1002/jimd.12436
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| 5. |
Mütze, Ulrike: Newborn screening and disease variants predict neurological outcome in isovaleric aciduria / Ulrike Mütze, Lucy Henze, Florian Gleich, Martin Lindner, Sarah C. Grünert, Ute Spiekerkoetter, Ren… , 25 January 2021. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 4 vom: 25. Jan., Seite 1-14
DOI: 10.1002/jimd.12364
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| 6. |
Mütze, Ulrike: How longitudinal observational studies can guide screening strategy for rare diseases / Ulrike Mütze, Katharina Mengler, Nikolas Boy, Florian Gleich, Thomas Opladen, Sven F. Garbade, Stefa… , 29 April 2022. - 13 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 45(2022), 5, Seite 889-901
DOI: 10.1002/jimd.12508
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Reischl-Hajiabadi, Anna Theresa: Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias / Anna T. Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter … , July 2024. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 4 vom: Juli, Seite 674-689
DOI: 10.1002/jimd.12731
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| 8. |
Lenz, Dominic: Genetic landscape of pediatric acute liver failure of indeterminate origin / Dominic Lenz, Lea D. Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Robert Kopajtich, … , May 2024. - 13 S. : Illustrationen
In: Hepatology, ISSN 1527-3350. 79(2024), 5 vom: Mai, Seite 1075-1087
DOI: 10.1097/HEP.0000000000000684
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| 9. |
Workshop for Pediatric Research <52., 2016, Frankfurt am Main>: Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016 / Rhea van den Bruck, Patrick P. Weil, Thomas Ziegenhals, Philipp Schreiner, Stefan Juranek, Daniel Gö… , 10 May 2017. - 9 S.
In: Molecular and Cellular Pediatrics, ISSN 2194-7791. 4(2017), Suppl. 1, Artikel-ID 5, Seite 1-9
DOI: 10.1186/s40348-017-0071-0
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| 10. |
Garbade, Sven: Age-related changes and reference values of bicaudate ratio and sagittal brainstem diameters on MRI / Sven F. Garbade, Nikolas Boy, Jana Heringer, Stefan Kölker, Inga Harting, 05. Juni 2018. - 7 S.
In: Neuropediatrics, ISSN 1439-1899. 49(2018), 04, Seite 269-275
DOI: 10.1055/s-0038-1660475
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| 11. |
Boy, Nikolas: Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1 / Nikolas Boy, Sven F. Garbade, Jana Heringer, Angelika Seitz, Stefan Kölker, Inga Harting, 11 February 2019. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 1, Seite 117-127
DOI: 10.1002/jimd.12033
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| 12. |
Boy, Nikolas: Patterns, evolution, and severity of striatal injury in insidious- vs acute-onset glutaric aciduria type 1 / Nikolas Boy, Sven F. Garbade, Jana Heringer, Angelika Seitz, Stefan Kölker, Inga Harting, 11 February 2019. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 1, Seite 117-127
DOI: 10.1002/jimd.12033
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| 13. |
Mütze, Ulrike: Neurological outcome in long-chain hydroxy fatty acid oxidation disorders / Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Ka… . - Online version of record before inclusion in an issue, 23 January 2024. - 16 S. : Illustrationen
In: Annals of Clinical and Translational Neurology, ISSN 2328-9503. (2024), Seite 1-16
DOI: 10.1002/acn3.52002
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| 14. |
Maier, Esther M.: Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples / Esther M. Maier, Ulrike Mütze, Nils Janzen, Ulrike Steuerwald, Uta Nennstiel, Birgit Odenwald, Elfri… , 2023. - 20 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. (2023), Seite 1-20
DOI: 10.1002/jimd.12671
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| 15. |
Mütze, Ulrike: Long-term outcomes of individuals with metabolic diseases identified through newborn screening / Ulrike Mütze, MD, Sven F. Garbade, PhD, Gwendolyn Gramer, MD, Martin Lindner, MD, Peter Freisinger, … , October 13, 2020. - 11 S.
In: Pediatrics, ISSN 1098-4275. 146(2020,5) Artikelnummer e20200444, 11 Seiten
DOI: 10.1542/peds.2020-0444
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| 16. |
Boy, Nikolas: A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I / Nikolas Boy, Jana Heringer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Sven F. Garbade, Stefa… . -
London: BioMed Central, 22 December 2015. - 1 Online-Ressource (12 Seiten)
DOI: 10.1186/s13023-015-0379-6
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| 17. |
Boy, Nikolas: A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I / Nikolas Boy, Jana Heringer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Sven F. Garbade, Stefa… , 22 December 2015
In: Orphanet journal of rare diseases, ISSN 1750-1172. 10(2015) Artikel-Nr. 163, 12 S.
DOI: 10.1186/s13023-015-0379-6
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| 18. |
Posset, Roland: Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders / Roland Posset, Sven F. Garbade, Florian Gleich, Sandesh C. S. Nagamani, Andrea L. Gropman, Friederik… , March 2024. - 9 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 3 vom: März, Artikel-ID 108112, Seite 1-9
DOI: 10.1016/j.ymgme.2023.108112
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| 19. |
Posset, Roland: Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders / Roland Posset, Sven F. Garbade, Florian Gleich, Svenja Scharre, Jürgen G. Okun, Andrea L. Gropman, S… , April 2024. - 12 S. : Illustrationen
In: Genetics in medicine, ISSN 1530-0366. 26(2024), 4 vom: Apr., Artikel-ID 101039, Seite 1-12
DOI: 10.1016/j.gim.2023.101039
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| 20. |
Posset, Roland: Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders : a successful strategy for clinical research of rare diseases / Roland Posset, Sven F. Garbade, Nikolas Boy, Alberto B. Burlina, Carlo Dionisi‐Vici, Dries Dobbelaer… , 11 February 2019. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 1, Seite 93-106
DOI: 10.1002/jimd.12031
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