Hoffmann GF - Search Results

1

Natural History and Developmental Trajectories of Individuals With Disease-Causing Variants in STXBP1.

Thalwitzer KM, Driedger JH, Xian J, Saffari A, Zacher P, Bölsterli BK, Ruggiero SM, Sullivan KR, Datta AN, Kellinghaus C, Althaus J, Wiemer-Kruel A, van Baalen A, Pampel A, Alber M, Braakman HMH, Debus OM, Denecke J, Hobbiebrunken E, Breitweg I, Diehl D, Eitel H, Gburek-Augustat J, Preisel M, Schlump JU, Laufs M, Mammadova D, Wurst C, Prager C, Löhr-Nilles C, Martin P, Garbade SF, Platzer K, Benkel-Herrenbrueck I, Egler K, Fazeli W, Lemke JR, Runkel E, Klein B, Linden T, Schröter J, Steffeck H, Thies B, von Deimling F, Illsinger S, Borggraefe I, Classen G, Wieczorek D, Ramantani G, Koelker S, Hoffmann GF, Ries M, Helbig I, Syrbe S. Thalwitzer KM, et al. Among authors: hoffmann gf. Neurology. 2023 Aug 29;101(9):e879-e891. doi: 10.1212/WNL.0000000000207550. Epub 2023 Jul 5. Neurology. 2023. PMID: 37407264

2

Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy.

Pechmann A, Behrens M, Dörnbrack K, Tassoni A, Stein S, Vogt S, Zöller D, Bernert G, Hagenacker T, Schara-Schmidt U, Schwersenz I, Walter MC, Baumann M, Baumgartner M, Deschauer M, Eisenkölbl A, Flotats-Bastardas M, Hahn A, Horber V, Husain RA, Illsinger S, Johannsen J, Köhler C, Kölbel H, Müller M, von Moers A, Schlachter K, Schreiber G, Schwartz O, Smitka M, Steiner E, Stögmann E, Trollmann R, Vill K, Weiß C, Wiegand G, Ziegler A, Lochmüller H, Kirschner J; SMArtCARE study group. Pechmann A, et al. Brain. 2023 Feb 13;146(2):668-677. doi: 10.1093/brain/awac252. Brain. 2023. PMID: 35857854

3

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

4

Normal clinical outcome in untreated subjects with mild hyperphenylalaninemia.

Weglage J, Pietsch M, Feldmann R, Koch HG, Zschocke J, Hoffmann G, Muntau-Heger A, Denecke J, Guldberg P, Güttler F, Möller H, Wendel U, Ullrich K, Harms E. Weglage J, et al. Pediatr Res. 2001 Apr;49(4):532-6. doi: 10.1203/00006450-200104000-00015. Pediatr Res. 2001. PMID: 11264437

5

The phenylalanine loading test in the differential diagnosis of dystonia.

Bandmann O, Goertz M, Zschocke J, Deuschl G, Jost W, Hefter H, Müller U, Zöfel P, Hoffmann G, Oertel W. Bandmann O, et al. Neurology. 2003 Feb 25;60(4):700-2. doi: 10.1212/01.wnl.0000048205.18445.98. Neurology. 2003. PMID: 12601115 Clinical Trial.

6

Duarte-1 (Los Angeles) and Duarte-2 (Duarte) variants in Germany: two new mutations in the GALT gene which cause a GALT activity decrease by 40-50% of normal in red cells.

Shin YS, Koch HG, Köhler M, Hoffmann G, Patsoura A, Podskarbi T. Shin YS, et al. J Inherit Metab Dis. 1998 Jun;21(3):232-5. doi: 10.1023/a:1005303818858. J Inherit Metab Dis. 1998. PMID: 9686364 No abstract available.

7

Value of sonography in monitoring the therapeutic response of mediastinal lymphoma: comparison with chest radiography and CT.

Wernecke K, Vassallo P, Hoffmann G, Peters PE, Poetter R, Rummeny E, Koch P. Wernecke K, et al. AJR Am J Roentgenol. 1991 Feb;156(2):265-72. doi: 10.2214/ajr.156.2.1898797. AJR Am J Roentgenol. 1991. PMID: 1898797

8

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database.

Sen K, Izem R, Long Y, Jiang J, Konczal LL, McCarter RJ; Members of the Urea Cycle Disorders Consortium (UCDC); Gropman AL, Bedoyan JK. Sen K, et al. Mol Genet Genomic Med. 2024 Apr;12(4):e2443. doi: 10.1002/mgg3.2443. Mol Genet Genomic Med. 2024. PMID: 38634223 Free PMC article. Review.

9

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

10

New Cases of Maleylacetoacetate Isomerase Deficiency with Detection by Newborn Screening and Natural History over 32 Years: Experience from a German Newborn Screening Center.

Gramer G, Wortmann SB, Fang-Hoffmann J, Kohlmüller D, Okun JG, Prokisch H, Meitinger T, Hoffmann GF. Gramer G, et al. Among authors: hoffmann gf. Int J Neonatal Screen. 2024 Feb 27;10(1):17. doi: 10.3390/ijns10010017. Int J Neonatal Screen. 2024. PMID: 38535121 Free PMC article.

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