Hoffmann GF - Search Results

1

Long-term use of everolimus for refractory arrhythmia in a child with tuberous sclerosis complex.

Hofmann C, Syrbe S, Hebe J, Kreft J, Stark S, Milde T, Völkers M, Hoffmann GF, Gorenflo M, Kovacevic A. Hofmann C, et al. Among authors: hoffmann gf. Am J Med Genet A. 2024 May;194(5):e63508. doi: 10.1002/ajmg.a.63508. Epub 2023 Dec 21. Am J Med Genet A. 2024. PMID: 38130096

2

Detection of early cardiac disease manifestation in propionic acidemia - Results of a monocentric cross-sectional study.

Kovacevic A, Garbade SF, Hörster F, Hoffmann GF, Gorenflo M, Mereles D, Kölker S, Staufner C. Kovacevic A, et al. Among authors: hoffmann gf. Mol Genet Metab. 2022 Dec;137(4):349-358. doi: 10.1016/j.ymgme.2022.10.007. Epub 2022 Nov 2. Mol Genet Metab. 2022. PMID: 36395710

3

Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional Study.

Kovacevic A, Garbade SF, Hörster F, Hoffmann GF, Gorenflo M, Mereles D, Kölker S, Staufner C. Kovacevic A, et al. Among authors: hoffmann gf. Children (Basel). 2023 Jan 5;10(1):113. doi: 10.3390/children10010113. Children (Basel). 2023. PMID: 36670663 Free PMC article.

4

Fat embolism syndrome in Duchenne muscular dystrophy: Report on a novel case and systematic literature review.

Specht S, Zhukova I, Westhoff JH, Erb L, Ziegler A, Kölker S, Hoffmann GF, Hagmann S, Syrbe S. Specht S, et al. Among authors: hoffmann gf. Eur J Paediatr Neurol. 2024 Jan;48:91-100. doi: 10.1016/j.ejpn.2023.11.012. Epub 2023 Dec 6. Eur J Paediatr Neurol. 2024. PMID: 38096597 Review.

5

A high-throughput newborn screening approach for SCID, SMA, and SCD combining multiplex qPCR and tandem mass spectrometry.

Tesorero R, Janda J, Hörster F, Feyh P, Mütze U, Hauke J, Schwarz K, Kunz JB, Hoffmann GF, Okun JG. Tesorero R, et al. Among authors: hoffmann gf. PLoS One. 2023 Mar 10;18(3):e0283024. doi: 10.1371/journal.pone.0283024. eCollection 2023. PLoS One. 2023. PMID: 36897914 Free PMC article.

6

Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS.

Peters B, Wiemers F, Lenz D, Kölker S, Hoffmann GF, Köhler S, Staufner C. Peters B, et al. Among authors: hoffmann gf. JIMD Rep. 2023 Feb 15;64(3):246-251. doi: 10.1002/jmd2.12362. eCollection 2023 May. JIMD Rep. 2023. PMID: 37151364 Free PMC article.

7

ASS1 deficiency is associated with impaired neuronal differentiation in zebrafish larvae.

Seidl MJ, Scharre S, Posset R, Druck AC, Epp F, Okun JG, Dimitrov B, Hoffmann GF, Kölker S, Zielonka M. Seidl MJ, et al. Among authors: hoffmann gf. Mol Genet Metab. 2024 Jan;141(1):108097. doi: 10.1016/j.ymgme.2023.108097. Epub 2023 Nov 28. Mol Genet Metab. 2024. PMID: 38113552 Free article.

8

High Throughput Newborn Screening for Sickle Cell Disease - Application of Two-Tiered Testing with a qPCR-Based Primary screen.

Janda J, Hegert S, Bzdok J, Tesorero R, Holtkamp U, Burggraf S, Schuhmann E, Hörster F, Hoffmann GF, Janzen N, Okun JG, Becker M, Durner J. Janda J, et al. Among authors: hoffmann gf. Klin Padiatr. 2023 Nov;235(6):366-372. doi: 10.1055/a-2153-7789. Epub 2023 Sep 25. Klin Padiatr. 2023. PMID: 37748509 Free PMC article.

9

Digital-Tier Strategy Improves Newborn Screening for Glutaric Aciduria Type 1.

Zaunseder E, Teinert J, Boy N, Garbade SF, Haupt S, Feyh P, Hoffmann GF, Kölker S, Mütze U, Heuveline V. Zaunseder E, et al. Among authors: hoffmann gf. Int J Neonatal Screen. 2024 Dec 21;10(4):83. doi: 10.3390/ijns10040083. Int J Neonatal Screen. 2024. PMID: 39728403 Free PMC article.

10

Dipeptides in CSF and plasma: diagnostic and therapeutic potential in neurological diseases.

Küper K, Poschet G, Rossmann J, Garbade SF, Spiegelhalter A, Wen D, Hoffmann GF, Schmitt CP, Opladen T, Peters V. Küper K, et al. Among authors: hoffmann gf. Amino Acids. 2024 Dec 13;57(1):2. doi: 10.1007/s00726-024-03434-1. Amino Acids. 2024. PMID: 39673003 Free PMC article.

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