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Real-world management of maple syrup urine disease (MSUD) metabolic decompensations with branched chain amino acid-free formulas in France and Germany: A retrospective observational study.
de Lonlay P, Posset R, Mütze U, Mention K, Lamireau D, Schiff M, Servais A, Arnoux JB, Brassier A, Dao M, Douillard C, Ottolenghi C, Pontoizeau C, Miotto F, Le Mouhaër J. de Lonlay P, et al. Among authors: mutze u. JIMD Rep. 2021 Mar 6;59(1):110-119. doi: 10.1002/jmd2.12207. eCollection 2021 May. JIMD Rep. 2021. PMID: 33977036 Free PMC article.
Long-term effects of medical management on growth and weight in individuals with urea cycle disorders.
Posset R, Garbade SF, Gleich F, Gropman AL, de Lonlay P, Hoffmann GF, Garcia-Cazorla A, Nagamani SCS, Baumgartner MR, Schulze A, Dobbelaere D, Yudkoff M, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD). Posset R, et al. Sci Rep. 2020 Jul 20;10(1):11948. doi: 10.1038/s41598-020-67496-3. Sci Rep. 2020. PMID: 32686765 Free PMC article.
Postauthorization safety study of betaine anhydrous.
Mütze U, Gleich F, Garbade SF, Plisson C, Aldámiz-Echevarría L, Arrieta F, Ballhausen D, Zielonka M, Petković Ramadža D, Baumgartner MR, Cano A, García Jiménez MC, Dionisi-Vici C, Ješina P, Blom HJ, Couce ML, Meavilla Olivas S, Mention K, Mochel F, Morris AAM, Mundy H, Redonnet-Vernhet I, Santra S, Schiff M, Servais A, Vitoria I, Huemer M, Kožich V, Kölker S. Mütze U, et al. J Inherit Metab Dis. 2022 Jul;45(4):719-733. doi: 10.1002/jimd.12499. Epub 2022 Apr 6. J Inherit Metab Dis. 2022. PMID: 35358327 Free article.
Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.
Reischl-Hajiabadi AT, Schnabel E, Gleich F, Mengler K, Lindner M, Burgard P, Posset R, Lommer-Steinhoff S, Grünert SC, Thimm E, Freisinger P, Hennermann JB, Krämer J, Gramer G, Lenz D, Christ S, Hörster F, Hoffmann GF, Garbade SF, Kölker S, Mütze U. Reischl-Hajiabadi AT, et al. Among authors: mutze u. J Inherit Metab Dis. 2024 Jul;47(4):674-689. doi: 10.1002/jimd.12731. Epub 2024 Apr 2. J Inherit Metab Dis. 2024. PMID: 38563533
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
Mengler K, Garbade SF, Gleich F, Thimm E, May P, Lindner M, Lüsebrink N, Marquardt T, Hübner V, Krämer J, Neugebauer J, Beblo S, Gillitzer C, Grünert SC, Hennermann JB, Kamrath C, Marquardt I, Näke A, Murko S, Schmidt S, Schnabel E, Lommer-Steinhoff S, Hoffmann GF, Beime J, Santer R, Kölker S, Mütze U. Mengler K, et al. Among authors: mutze u. Pediatrics. 2024 Aug 1;154(2):e2023064370. doi: 10.1542/peds.2023-064370. Pediatrics. 2024. PMID: 38957900
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