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Newborn screening for aromatic l-amino acid decarboxylase deficiency - Strategies, results, and implication for prevalence calculations.
Reischl-Hajiabadi AT, Okun JG, Kohlmüller D, Manukjan G, Hegert S, Durner J, Schuhmann E, Hörster F, Mütze U, Feyh P, Hoffmann GF, Röschinger W, Janzen N, Opladen T. Reischl-Hajiabadi AT, et al. Among authors: hoffmann gf. Mol Genet Metab. 2024 Mar;141(3):108148. doi: 10.1016/j.ymgme.2024.108148. Epub 2024 Jan 31. Mol Genet Metab. 2024. PMID: 38302374 Free article.
Does the aromatic L-amino acid decarboxylase contribute to thyronamine biosynthesis?
Hoefig CS, Renko K, Piehl S, Scanlan TS, Bertoldi M, Opladen T, Hoffmann GF, Klein J, Blankenstein O, Schweizer U, Köhrle J. Hoefig CS, et al. Among authors: hoffmann gf. Mol Cell Endocrinol. 2012 Feb 26;349(2):195-201. doi: 10.1016/j.mce.2011.10.024. Epub 2011 Oct 28. Mol Cell Endocrinol. 2012. PMID: 22061622
aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment.
Schröter J, Dattner T, Hüllein J, Jayme A, Heuveline V, Hoffmann GF, Kölker S, Lenz D, Opladen T, Popp B, Schaaf CP, Staufner C, Syrbe S, Uhrig S, Hübschmann D, Brennenstuhl H. Schröter J, et al. Among authors: hoffmann gf. Comput Struct Biotechnol J. 2023 Jan 25;21:1077-1083. doi: 10.1016/j.csbj.2023.01.027. eCollection 2023. Comput Struct Biotechnol J. 2023. PMID: 36789265 Free PMC article.
Clinical Effectiveness of Newborn Screening for Spinal Muscular Atrophy: A Nonrandomized Controlled Trial.
Schwartz O, Vill K, Pfaffenlehner M, Behrens M, Weiß C, Johannsen J, Friese J, Hahn A, Ziegler A, Illsinger S, Smitka M, von Moers A, Kölbel H, Schreiber G, Kaiser N, Wilichowski E, Flotats-Bastardas M, Husain RA, Baumann M, Köhler C, Trollmann R, Schwerin-Nagel A, Eisenkölbl A, Schimmel M, Fleger M, Kauffmann B, Wiegand G, Baumgartner M, Rauscher C, Cirak S, Gläser D, Bernert G, Hagenacker T, Goldbach S, Probst-Schendzielorz K, Lochmüller H, Müller-Felber W, Schara-Schmidt U, Walter MC, Kirschner J, Pechmann A; SMARTCARE study group. Schwartz O, et al. JAMA Pediatr. 2024 Apr 8:e240492. doi: 10.1001/jamapediatrics.2024.0492. Online ahead of print. JAMA Pediatr. 2024. PMID: 38587854
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
Resource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disorders.
Choukair D, Patry C, Lehmann R, Treiber D, Hoffmann GF, Grasemann C, Bruck N, Berner R, Burgard P, Lorenz HM, Tönshoff B. Choukair D, et al. Among authors: hoffmann gf. Pediatr Rheumatol Online J. 2024 Feb 23;22(1):28. doi: 10.1186/s12969-024-00963-7. Pediatr Rheumatol Online J. 2024. PMID: 38395977 Free PMC article.
Impact of supplementation with L-citrulline/arginine after liver transplantation in individuals with Urea Cycle Disorders.
Posset R, Garbade SF, Gleich F, Nagamani SCS, Gropman AL, Epp F, Ramdhouni N, Druck AC, Hoffmann GF, Kölker S, Zielonka M; Urea Cycle Disorders Consortium (UCDC) and the European registry and network for Intoxication type Metabolic Diseases (E-IMD) consortia study group. Posset R, et al. Among authors: hoffmann gf. Mol Genet Metab. 2024 Mar;141(3):108112. doi: 10.1016/j.ymgme.2023.108112. Epub 2023 Dec 10. Mol Genet Metab. 2024. PMID: 38301530 Free article.
599 results