Affiner les résultats

Dried Blood Spot Thyroglobulin as a Biomarker of Iodine Status in Pregnant Women

Stinca, Sara ; Andersson, Maria ; Weibel, Sandra ; Herter-Aeberli, Isabelle ; Fingerhut, Ralph ; Gowachirapant, Sueppong ; Hess, Sonja Y. ; Jaiswal, Nidhi ; Jukić, Tomislav ; Kusic, Zvonko ; Mabapa, Ngoako Solomon ; Nepal, Ashwini Kumar ; San Luis, Teofilo O. L. ; Zhen, Jia Qing ; Zimmermann, Michael Bruce

In: The Journal of Clinical Endocrinology & Metabolism, 2016, vol. 102, no. 1, p. 23-32

Visual impairment and progressive phthisis bulbi caused by recessive pathogenic variant in MARK3

Ansar, Muhammad ; Chung, Hyunglok ; Waryah, Yar M. ; Makrythanasis, Periklis ; Falconnet, Emilie ; Rao, Ali Raza ; Guipponi, Michel ; Narsani, Ashok K. ; Fingerhut, Ralph ; Santoni, Federico A. ; Ranza, Emmanuelle ; Waryah, Ali M. ; Bellen, Hugo J. ; Antonarakis, Stylianos E.

In: Human Molecular Genetics, 2018, vol. 27, no. 15, p. 2703-2711

Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples

Fingerhut, Ralph ; De Jesus Silva Arevalo, Gabriel ; Baumgartner, Matthias ; Häberle, Johannes ; Rohrbach, Marianne ; Figueroa, Andrés ; Fresse, Elena ; Polanco, Olga ; Torresani, Toni

In: Journal of Inherited Metabolic Disease, 2010, vol. 33, p. 235-239

Newborn screening for inborn errors of metabolism and endocrinopathies: an update

Fingerhut, Ralph ; Olgemöller, Bernhard

In: Analytical and Bioanalytical Chemistry, 2009, vol. 393, no. 5, p. 1481-1497

Kidney mass reduction leads to L‐arginine metabolism‐dependent blood pressure increase in mice

Muralidharan Pillai, Samyuktha ; Seebeck, Petra ; Fingerhut, Ralph ; Huang, Ji ; Ming, Xiu‐Fen ; Yang, Zhihong ; Verrey, François

In: Journal of the American Heart Association, 2018, vol. 7, no. 5, p. e008025

Background Uninephrectomy (UNX) is performed for various reasons, including kidney cancer or donation. Kidneys being the main site of L‐arginine production in the body, we tested whether UNX mediated kidney mass reduction impacts L‐arginine metabolism and thereby nitric oxide production and blood pressure regulation in mice. Methods and Results In a first series of experiments, we observed...

Pahenu1 is a mouse model for tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency and promotes analysis of the pharmacological chaperone mechanism in vivo

Gersting, Søren W. ; Lagler, Florian B. ; Eichinger, Anna ; Kemter, Kristina F. ; Danecka, Marta K. ; Messing, Dunja D. ; Staudigl, Michael ; Domdey, Katharina A. ; Zsifkovits, Clemens ; Fingerhut, Ralph ; Glossmann, Hartmut ; Roscher, Adelbert A. ; Muntau, Ania C.

In: Human Molecular Genetics, 2010, vol. 19, no. 10, p. 2039-2049

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency

Korner, Germaine

In: Brain, 2015, vol. 138, no. 10, p. 2948-2963

Brain catecholamine depletion and motor impairment in a Th knock-in mouse with type B tyrosine hydroxylase deficiency

Korner, Germaine ; Noain, Daniela ; Ying, Ming ; Hole, Magnus ; Flydal, Marte I. ; Scherer, Tanja ; Allegri, Gabriella ; Rassi, Anahita ; Fingerhut, Ralph ; Becu-Villalobos, Damasia ; Pillai, Samyuktha ; Wueest, Stephan ; Konrad, Daniel ; Lauber-Biason, Anna ; Baumann, Christian R. ; Bindoff, Laurence A. ; Martinez, Aurora ; Thöny, Beat

In: Brain, 2015, vol. 138, no. 10, p. 2948-2963

Tyrosine hydroxylase catalyses the hydroxylation of L-tyrosine to l-DOPA, the rate- limiting step in the synthesis of catecholamines. Mutations in the TH gene encoding tyrosine hydroxylase are associated with the autosomal recessive disorder tyrosine hydroxylase deficiency, which manifests phenotypes varying from infantile parkinsonism and DOPA-responsive dystonia, also termed type A, to...