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Page 1
Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.
Maier EM, Mütze U, Janzen N, Steuerwald U, Nennstiel U, Odenwald B, Schuhmann E, Lotz-Havla AS, Weiss KJ, Hammersen J, Weigel C, Thimm E, Grünert SC, Hennermann JB, Freisinger P, Krämer J, Das AM, Illsinger S, Gramer G, Fang-Hoffmann J, Garbade SF, Okun JG, Hoffmann GF, Kölker S, Röschinger W. Maier EM, et al. Among authors: hoffmann gf. J Inherit Metab Dis. 2023 Nov;46(6):1043-1062. doi: 10.1002/jimd.12671. Epub 2023 Sep 12. J Inherit Metab Dis. 2023. PMID: 37603033
Genetic landscape of pediatric acute liver failure of indeterminate origin.
Lenz D, Schlieben LD, Shimura M, Bianzano A, Smirnov D, Kopajtich R, Berutti R, Adam R, Aldrian D, Baric I, Baumann U, Bozbulut NE, Brugger M, Brunet T, Bufler P, Burnytė B, Calvo PL, Crushell E, Dalgiç B, Das AM, Dezsőfi A, Distelmaier F, Fichtner A, Freisinger P, Garbade SF, Gaspar H, Goujon L, Hadzic N, Hartleif S, Hegen B, Hempel M, Henning S, Hoerning A, Houwen R, Hughes J, Iorio R, Iwanicka-Pronicka K, Jankofsky M, Junge N, Kanavaki I, Kansu A, Kaspar S, Kathemann S, Kelly D, Kirsaçlioğlu CT, Knoppke B, Kohl M, Kölbel H, Kölker S, Konstantopoulou V, Krylova T, Kuloğlu Z, Kuster A, Laass MW, Lainka E, Lurz E, Mandel H, Mayerhanser K, Mayr JA, McKiernan P, McClean P, McLin V, Mention K, Müller H, Pasquier L, Pavlov M, Pechatnikova N, Peters B, Petković Ramadža D, Piekutowska-Abramczuk D, Pilic D, Rajwal S, Rock N, Roetig A, Santer R, Schenk W, Semenova N, Sokollik C, Sturm E, Taylor RW, Tschiedel E, Urbonas V, Urreizti R, Vermehren J, Vockley J, Vogel GF, Wagner M, van der Woerd W, Wortmann SB, Zakharova E, Hoffmann GF, Meitinger T, Murayama K, Staufner C, Prokisch H. Lenz D, et al. Among authors: hoffmann gf. Hepatology. 2024 May 1;79(5):1075-1087. doi: 10.1097/HEP.0000000000000684. Epub 2023 Nov 16. Hepatology. 2024. PMID: 37976411 Free PMC article.
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. Among authors: hoffmann gf. 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.
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.
Hammann N, Lenz D, Baric I, Crushell E, Vici CD, Distelmaier F, Feillet F, Freisinger P, Hempel M, Khoreva AL, Laass MW, Lacassie Y, Lainka E, Larson-Nath C, Li Z, Lipiński P, Lurz E, Mégarbané A, Nobre S, Olivieri G, Peters B, Prontera P, Schlieben LD, Seroogy CM, Sobacchi C, Suzuki S, Tran C, Vockley J, Wang JS, Wagner M, Prokisch H, Garbade SF, Kölker S, Hoffmann GF, Staufner C. Hammann N, et al. Among authors: hoffmann gf. Mol Genet Metab. 2024 Mar;141(3):108118. doi: 10.1016/j.ymgme.2023.108118. Epub 2024 Jan 11. Mol Genet Metab. 2024. PMID: 38244286 Free article.
Influence of Season, Storage Temperature and Time of Sample Collection in Pancreatitis-Associated Protein-Based Algorithms for Newborn Screening for Cystic Fibrosis.
Maier P, Jeyaweerasinkam S, Eberhard J, Soueidan L, Hämmerling S, Kohlmüller D, Feyh P, Gramer G, Garbade SF, Hoffmann GF, Okun JG, Sommerburg O. Maier P, et al. Among authors: hoffmann gf. Int J Neonatal Screen. 2024 Jan 12;10(1):5. doi: 10.3390/ijns10010005. Int J Neonatal Screen. 2024. PMID: 38248633 Free PMC 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: hoffmann gf. J Inherit Metab Dis. 2024 Apr 2. doi: 10.1002/jimd.12731. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 38563533
602 results