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2007 1
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59 results

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Page 1
Severity-adjusted evaluation of liver transplantation on health outcomes in urea cycle disorders.
Posset R, Garbade SF, Gleich F, Scharre S, Okun JG, Gropman AL, Nagamani SCS, Druck AC, Epp F, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC); European registry and network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Posset R, et al. Genet Med. 2024 Apr;26(4):101039. doi: 10.1016/j.gim.2023.101039. Epub 2023 Dec 3. Genet Med. 2024. PMID: 38054409 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: gramer g. 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
Citrin deficiency mimicking mitochondrial depletion syndrome.
Grünert SC, Schumann A, Freisinger P, Rosenbaum-Fabian S, Schmidts M, Mueller AJ, Beck-Wödl S, Haack TB, Schneider H, Fuchs H, Teufel U, Gramer G, Hannibal L, Spiekerkoetter U. Grünert SC, et al. Among authors: gramer g. BMC Pediatr. 2020 Nov 11;20(1):518. doi: 10.1186/s12887-020-02409-x. BMC Pediatr. 2020. PMID: 33176737 Free PMC article.
Can untreated PKU patients escape from intellectual disability? A systematic review.
van Vliet D, van Wegberg AMJ, Ahring K, Bik-Multanowski M, Blau N, Bulut FD, Casas K, Didycz B, Djordjevic M, Federico A, Feillet F, Gizewska M, Gramer G, Hertecant JL, Hollak CEM, Jørgensen JV, Karall D, Landau Y, Leuzzi V, Mathisen P, Moseley K, Mungan NÖ, Nardecchia F, Õunap K, Powell KK, Ramachandran R, Rutsch F, Setoodeh A, Stojiljkovic M, Trefz FK, Usurelu N, Wilson C, van Karnebeek CD, Hanley WB, van Spronsen FJ. van Vliet D, et al. Among authors: gramer g. Orphanet J Rare Dis. 2018 Aug 29;13(1):149. doi: 10.1186/s13023-018-0890-7. Orphanet J Rare Dis. 2018. PMID: 30157945 Free PMC article.
Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.
Schnabel-Besson E, Garbade SF, Gleich F, Grünert SC, Krämer J, Thimm E, Hennermann JB, Freisinger P, Burgard P, Gramer G, Morath MA, Tuncel AT, Keßler S, Hoffmann GF, Kölker S, Mütze U. Schnabel-Besson E, et al. Among authors: gramer g. J Inherit Metab Dis. 2025 Jan;48(1):e12784. doi: 10.1002/jimd.12784. Epub 2024 Aug 27. J Inherit Metab Dis. 2025. PMID: 39189622 Free PMC article.
Genetic cause and prevalence of hydroxyprolinemia.
Staufner C, Haack TB, Feyh P, Gramer G, Raga DE, Terrile C, Sauer S, Okun JG, Fang-Hoffmann J, Mayatepek E, Prokisch H, Hoffmann GF, Kölker S. Staufner C, et al. Among authors: gramer g. J Inherit Metab Dis. 2016 Sep;39(5):625-632. doi: 10.1007/s10545-016-9940-2. Epub 2016 May 2. J Inherit Metab Dis. 2016. PMID: 27139199
Mapping challenges in the accessibility of treatment products for urea cycle disorders: A survey of European healthcare professionals.
Stolwijk NN, Häberle J, Huidekoper HH, Wagenmakers MAEM, Hollak CEM, Bosch AM; E‐IMD and MetabERN Working Group on the Real‐World Use of products for UCD Management. Stolwijk NN, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12815. doi: 10.1002/jimd.12815. Epub 2024 Dec 3. J Inherit Metab Dis. 2025. PMID: 39625308 Free PMC article.
Phenylalanine Effects on Brain Function in Adult Phenylketonuria.
Pilotto A, Zipser CM, Leks E, Haas D, Gramer G, Freisinger P, Schaeffer E, Liepelt-Scarfone I, Brockmann K, Maetzler W, Schulte C, Deuschle C, Hauser AK, Hoffmann GF, Scheffler K, van Spronsen FJ, Padovani A, Trefz F, Berg D. Pilotto A, et al. Among authors: gramer g. Neurology. 2021 Jan 19;96(3):e399-e411. doi: 10.1212/WNL.0000000000011088. Epub 2020 Oct 22. Neurology. 2021. PMID: 33093221
59 results