Nuoffer JM - Search Results

1

Mitochondrial dysfunction results in enhanced adrenal androgen production in H295R cells.

Mathis D, du Toit T, Altinkilic EM, Stojkov D, Urzì C, Voegel CD, Wu V, Zamboni N, Simon HU, Nuoffer JM, Flück CE, Felser A. Mathis D, et al. Among authors: nuoffer jm. J Steroid Biochem Mol Biol. 2024 Oct;243:106561. doi: 10.1016/j.jsbmb.2024.106561. Epub 2024 Jun 10. J Steroid Biochem Mol Biol. 2024. PMID: 38866189 Free article.

2

Methods for Oxygen Determination in an NMR Bioreactor as a Surrogate Marker for Metabolomic Studies in Living Cell Cultures.

Urzì C, Meyer C, Nuoffer JM, Vermathen P. Urzì C, et al. Among authors: nuoffer jm. Anal Chem. 2023 Dec 5;95(48):17486-17493. doi: 10.1021/acs.analchem.3c02314. Epub 2023 Nov 21. Anal Chem. 2023. PMID: 37989262 Free PMC article.

3

Specific GAG ratios in the diagnosis of mucopolysaccharidoses.

Mathis D, Prost JC, Maeder G, Arackal L, Zhang H, Kurth S, Freiburghaus K, Nuoffer JM. Mathis D, et al. Among authors: nuoffer jm. JIMD Rep. 2024 Feb 8;65(2):116-123. doi: 10.1002/jmd2.12412. eCollection 2024 Mar. JIMD Rep. 2024. PMID: 38444580 Free PMC article.

4

Nocturnal vestibular stimulation using a rocking bed improves a severe sleep disorder in a patient with mitochondrial disease.

Breuss A, Strasser M, Nuoffer JM, Klein A, Perret-Hoigné E, Felder C, Stauffer R, Wolf P, Riener R, Gautschi M. Breuss A, et al. Among authors: nuoffer jm. J Sleep Res. 2024 Mar 18:e14153. doi: 10.1111/jsr.14153. Online ahead of print. J Sleep Res. 2024. PMID: 38499951 Free article.

5

Untreated Classic Galactosemia: A Rare Cause of Adult-Onset Progressive Cerebellar Ataxia - A Case Report.

Karafyllis I, Nuoffer JM, Michelis JP, Chilver-Stainer L. Karafyllis I, et al. Among authors: nuoffer jm. Case Rep Neurol. 2024 Feb 7;16(1):55-62. doi: 10.1159/000536679. eCollection 2024 Jan-Dec. Case Rep Neurol. 2024. PMID: 38444718 Free PMC article.

6

Intra- and extracellular real-time analysis of perfused fibroblasts using an NMR bioreactor: A pilot study.

Urzì C, Meyer C, Mathis D, Vermathen P, Nuoffer JM. Urzì C, et al. Among authors: nuoffer jm. J Inherit Metab Dis. 2024 Sep 4. doi: 10.1002/jimd.12794. Online ahead of print. J Inherit Metab Dis. 2024. PMID: 39233469

7

Complex I, V, and MDH2 deficient human skin fibroblasts reveal distinct metabolic signatures by ¹ H HR-MAS NMR.

Meyer C, Hertig D, Arnold J, Urzi C, Kurth S, Mayr JA, Schaller A, Vermathen P, Nuoffer JM. Meyer C, et al. Among authors: nuoffer jm. J Inherit Metab Dis. 2024 Mar;47(2):270-279. doi: 10.1002/jimd.12696. Epub 2023 Dec 12. J Inherit Metab Dis. 2024. PMID: 38084664 Free article.

8

Expanding the p.(Arg85Trp) Variant-Specific Phenotype of HNF4A: Features of Glycogen Storage Disease, Liver Cirrhosis, Impaired Mitochondrial Function, and Glomerular Changes.

Grassi M, Laubscher B, Pandey AV, Tschumi S, Graber F, Schaller A, Janner M, Aeberli D, Hewer E, Nuoffer JM, Gautschi M. Grassi M, et al. Among authors: nuoffer jm. Mol Syndromol. 2023 Aug;14(4):347-361. doi: 10.1159/000529306. Epub 2023 Apr 12. Mol Syndromol. 2023. PMID: 37766831 Free PMC article.

9

Intracellular Fate of the Photosensitizer Chlorin e4 with Different Carriers and Induced Metabolic Changes Studied by ¹H NMR Spectroscopy.

Vermathen M, Kämpfer T, Nuoffer JM, Vermathen P. Vermathen M, et al. Among authors: nuoffer jm. Pharmaceutics. 2023 Sep 15;15(9):2324. doi: 10.3390/pharmaceutics15092324. Pharmaceutics. 2023. PMID: 37765292 Free PMC article.

10

Late adult-onset Niemann Pick type C (NPC): An "atypical" typical presentation at the age of 62.

Sousa M, Maamari B, Bremova T, Nuoffer JM, Wiest R, Amstutz D, Krack P, Bartholdi D, Tinkhauser G. Sousa M, et al. Among authors: nuoffer jm. Parkinsonism Relat Disord. 2024 Mar;120:105460. doi: 10.1016/j.parkreldis.2023.105460. Epub 2023 Jun 9. Parkinsonism Relat Disord. 2024. PMID: 37355399 Free article. No abstract available.

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