Gemperle C - Search Results

1

Clinical and structural insights into potential dominant negative triggers of proximal urea cycle disorders.

Makris G, Lauber M, Rüfenacht V, Gemperle C, Diez-Fernandez C, Caldovic L, Froese DS, Häberle J. Makris G, et al. Among authors: gemperle c. Biochimie. 2021 Apr;183:89-99. doi: 10.1016/j.biochi.2020.12.003. Epub 2020 Dec 9. Biochimie. 2021. PMID: 33309754 Free article. Clinical Trial.

2

Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation.

Diez-Fernandez C, Wellauer O, Gemperle C, Rüfenacht V, Fingerhut R, Häberle J. Diez-Fernandez C, et al. Among authors: gemperle c. J Med Genet. 2016 Oct;53(10):710-9. doi: 10.1136/jmedgenet-2016-103937. Epub 2016 Jun 10. J Med Genet. 2016. PMID: 27287393

3

Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations.

Diez-Fernandez C, Rüfenacht V, Gemperle C, Fingerhut R, Häberle J. Diez-Fernandez C, et al. Among authors: gemperle c. Hum Mutat. 2018 Aug;39(8):1029-1050. doi: 10.1002/humu.23545. Epub 2018 Jun 21. Hum Mutat. 2018. PMID: 29726057

4

Improvement of diagnostic yield in carbamoylphosphate synthetase 1 (CPS1) molecular genetic investigation by RNA sequencing.

Isler J, Rüfenacht V, Gemperle C, Allegri G, Häberle J. Isler J, et al. Among authors: gemperle c. JIMD Rep. 2020 Jan 9;52(1):28-34. doi: 10.1002/jmd2.12091. eCollection 2020 Mar. JIMD Rep. 2020. PMID: 32154057 Free PMC article.

5

Immune Alterations in a Patient With Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome: A Case Report.

Silvera-Ruiz SM, Gemperle C, Peano N, Olivero V, Becerra A, Häberle J, Gruppi A, Larovere LE, Motrich RD. Silvera-Ruiz SM, et al. Among authors: gemperle c. Front Immunol. 2022 May 27;13:861516. doi: 10.3389/fimmu.2022.861516. eCollection 2022. Front Immunol. 2022. PMID: 35711415 Free PMC article.

6

Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook.

Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N. Himmelreich N, et al. Among authors: gemperle c. Mol Genet Metab. 2019 May;127(1):12-22. doi: 10.1016/j.ymgme.2019.03.009. Epub 2019 Mar 27. Mol Genet Metab. 2019. PMID: 30952622 Review.

7

Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22].

Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N. Himmelreich N, et al. Among authors: gemperle c. Mol Genet Metab. 2021 Sep-Oct;134(1-2):216. doi: 10.1016/j.ymgme.2021.06.010. Epub 2021 Jul 7. Mol Genet Metab. 2021. PMID: 34244047 No abstract available.

8

Nickel release from metal items in contact with skin: a comparison of methods and practical implications for regulation in Europe.

Blaser P, Rothmund B, Schmid P, Stadler R, Gemperle C, McCombie G. Blaser P, et al. Among authors: gemperle c. J Environ Sci Health A Tox Hazard Subst Environ Eng. 2022;57(1):45-51. doi: 10.1080/10934529.2021.2024058. Epub 2022 Jan 4. J Environ Sci Health A Tox Hazard Subst Environ Eng. 2022. PMID: 34983324

9

Resolvin D1 reduces inflammation in co-cultures of primary human macrophages and adipocytes by triggering macrophages.

Gemperle C, Tran S, Schmid M, Rimann N, Marti-Jaun J, Hartling I, Wawrzyniak P, Hersberger M. Gemperle C, et al. Prostaglandins Leukot Essent Fatty Acids. 2021 Nov;174:102363. doi: 10.1016/j.plefa.2021.102363. Epub 2021 Oct 29. Prostaglandins Leukot Essent Fatty Acids. 2021. PMID: 34740032 Free article.

10

Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency.

Huemer M, Carvalho DR, Brum JM, Ünal Ö, Coskun T, Weisfeld-Adams JD, Schrager NL, Scholl-Bürgi S, Schlune A, Donner MG, Hersberger M, Gemperle C, Riesner B, Ulmer H, Häberle J, Karall D. Huemer M, et al. Among authors: gemperle c. J Inherit Metab Dis. 2016 May;39(3):331-340. doi: 10.1007/s10545-016-9928-y. Epub 2016 Apr 1. J Inherit Metab Dis. 2016. PMID: 27038030

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