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261 results

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Page 1
Brain function in classic galactosemia, a galactosemia network (GalNet) members review.
Panis B, Vos EN, Barić I, Bosch AM, Brouwers MCGJ, Burlina A, Cassiman D, Coman DJ, Couce ML, Das AM, Demirbas D, Empain A, Gautschi M, Grafakou O, Grunewald S, Kingma SDK, Knerr I, Leão-Teles E, Möslinger D, Murphy E, Õunap K, Pané A, Paci S, Parini R, Rivera IA, Scholl-Bürgi S, Schwartz IVD, Sdogou T, Shakerdi LA, Skouma A, Stepien KM, Treacy EP, Waisbren S, Berry GT, Rubio-Gozalbo ME. Panis B, et al. Among authors: das am. Front Genet. 2024 Feb 15;15:1355962. doi: 10.3389/fgene.2024.1355962. eCollection 2024. Front Genet. 2024. PMID: 38425716 Free PMC article. Review.
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants.
Vogel GF, Mozer-Glassberg Y, Landau YE, Schlieben LD, Prokisch H, Feichtinger RG, Mayr JA, Brennenstuhl H, Schröter J, Pechlaner A, Alkuraya FS, Baker JJ, Barcia G, Baric I, Braverman N, Burnyte B, Christodoulou J, Ciara E, Coman D, Das AM, Darin N, Della Marina A, Distelmaier F, Eklund EA, Ersoy M, Fang W, Gaignard P, Ganetzky RD, Gonzales E, Howard C, Hughes J, Konstantopoulou V, Kose M, Kerr M, Khan A, Lenz D, McFarland R, Margolis MG, Morrison K, Müller T, Murayama K, Nicastro E, Pennisi A, Peters H, Piekutowska-Abramczuk D, Rötig A, Santer R, Scaglia F, Schiff M, Shagrani M, Sharrard M, Soler-Alfonso C, Staufner C, Storey I, Stormon M, Taylor RW, Thorburn DR, Teles EL, Wang JS, Weghuber D, Wortmannd S. Vogel GF, et al. Among authors: das am. Genet Med. 2023 Jun;25(6):100828. doi: 10.1016/j.gim.2023.100828. Epub 2023 Apr 13. Genet Med. 2023. PMID: 37272928 Free article. No abstract available.
Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.
Das AM, Ballhausen D, Haas D, Häberle J, Hagedorn T, Janson-Mutsaerts C, Janzen N, Sander J, Freisinger P, Karall D, Meyer U, Mönch E, Morlot S, Rosenbaum-Fabian S, Scholl-Bürgi S, Vom Dahl S, Weinhold N, Zeman J, Lange K. Das AM, et al. J Inherit Metab Dis. 2025 Jan;48(1):e12824. doi: 10.1002/jimd.12824. J Inherit Metab Dis. 2025. PMID: 39676394 Free PMC article. Review.
Water-hydroxide trapping in cobalt tungstate for proton exchange membrane water electrolysis.
Ram R, Xia L, Benzidi H, Guha A, Golovanova V, Garzón Manjón A, Llorens Rauret D, Sanz Berman P, Dimitropoulos M, Mundet B, Pastor E, Celorrio V, Mesa CA, Das AM, Pinilla-Sánchez A, Giménez S, Arbiol J, López N, García de Arquer FP. Ram R, et al. Among authors: das am. Science. 2024 Jun 21;384(6702):1373-1380. doi: 10.1126/science.adk9849. Epub 2024 Jun 20. Science. 2024. PMID: 38900890
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: das am. Hepatology. 2024 May 1;79(5):1075-1087. doi: 10.1097/HEP.0000000000000684. Epub 2023 Nov 16. Hepatology. 2024. PMID: 37976411 Free PMC article.
LMS-based continuous pediatric reference values for soluble receptor activator of nuclear factor kappa B ligand (sRANKL) and osteoprotegerin (OPG) in the HARP cohort.
Tietze H, Pott V, Kanzelmeyer N, Memaran N, Baumann U, Mindermann C, Suhlrie A, Drube J, Melk A, Das AM, Schnabel D, Haffner D, Leifheit-Nestler M. Tietze H, et al. Among authors: das am. Osteoporos Int. 2024 Mar;35(3):533-542. doi: 10.1007/s00198-023-06959-5. Epub 2023 Nov 9. Osteoporos Int. 2024. PMID: 37940696 Free PMC article.
261 results