Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

Autor: Thomas Opladen, Eduardo López-Laso, Elisenda Cortès-Saladelafont, Toni S. Pearson, H. Serap Sivri, Yilmaz Yildiz, Birgit Assmann, Manju A. Kurian, Vincenzo Leuzzi, Simon Heales, Simon Pope, Francesco Porta, Angeles García-Cazorla, Tomáš Honzík, Roser Pons, Luc Regal, Helly Goez, Rafael Artuch, Georg F. Hoffmann, Gabriella Horvath, Beat Thöny, Sabine Scholl-Bürgi, Alberto Burlina, Marcel M. Verbeek, Mario Mastrangelo, Jennifer Friedman, Tessa Wassenberg, Kathrin Jeltsch, Jan Kulhánek, Oya Kuseyri Hübschmann, on behalf of the International Working Group on Neurotransmitter related Disorders (iNTD)

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-5 (2020)

An amendment to this paper has been published and can be accessed via the original article.

Externí odkaz: https://doaj.org/article/be41af8128154b17bae7590996d85f93

β-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity

Autor: Doreen Dobritzsch, Judith Meijer, Rutger Meinsma, Dirk Maurer, Ardeshir A. Monavari, Anders Gummesson, Annika Reims, Jorge A. Cayuela, Natalia Kuklina, Jean-François Benoist, Laurence Perrin, Birgit Assmann, Georg F. Hoffmann, Jörgen Bierau, Angela M. Kaindl, André B.P. van Kuilenburg

Publikováno v: Molecular genetics and metabolism, 136(3), 177-185. Academic Press Inc.
Molecular Genetics and Metabolism, 136(3), 177-185. Academic Press
Molecular Genetics and Metabolism, 136(3), 177-185. Academic Press Inc.

beta-Ureidopropionase is the third enzyme of the pyrimidine degradation pathway and catalyses the conversion of N-carbamyl-beta-alanine and N-carbamyl-beta-aminoisobutyric acid to beta-alanine and beta-aminoisobutyric acid, ammonia and CO2. To date,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4548d2ad17ee7613703e5f517be70cb1
https://doi.org/10.1016/j.ymgme.2022.01.102

Erratum zu: Die intrazerebrale Gentherapie des Aromatischen-L-Aminosäure-Decarboxylase-Mangels mit Eladocagene exuparvovec. Eine Stellungnahme der Gesellschaft für Neuropädiatrie (GNP), der Arbeitsgemeinschaft pädiatrischer Stoffwechselstörungen (APS), der Deutschen Gesellschaft für Neurochirurgie (DGNC) und der Deutschen Gesellschaft für Kinder- und Jugendmedizin (DGKJ)

Autor: Thomas Opladen, Heiko Brennenstuhl, Oya Kuseyri Hübschmann, Debora Call, Kim Green, Ulrike Schara, Wolfgang Rascher, Annegret Hövel, Birgit Assmann, Stefan Kölker, Jens H. Westhoff, Magdalena Walter, Andreas Ziegler, Georg F. Hoffmann, Karl Kiening

in press

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d581de85bbb1141b71625cd7f5332913
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85138933356

Synthesis and metabolism of leukotrienes in γ-glutamyl transpeptidase deficiency

Autor: Ertan Mayatepek, Jürgen G. Okun, Thomas Meissner, Birgit Assmann, Judith Hammond, Johannes Zschocke, Wolf-Dieter Lehmann

Publikováno v: Journal of Lipid Research, Vol 45, Iss 5, Pp 900-904 (2004)

Leukotrienes (LTs) are active lipid mediators derived in the 5-lipoxygenase pathway. LTC4, the primary cysteinyl LT, is cleaved by γ-glutamyl transpeptidase (GGT), resulting in LTD4. We studied the synthesis and metabolism of LTs in three patients w

Externí odkaz: https://doaj.org/article/8e7d399f9806402dadcbef1696eac54c

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia

Autor: Annette Horn, Karl L. Kiening, Mira Schulze-Rhonhof, Anne Koy, Hülya-Sevcan Daimagüler, Rosanne Sprute, Birgit Assmann, Janine Altmüller, Amande Pauls, Holger Thiele, Adriana Contreras, Hormos Salimi Dafsari, Tülay Karakulak, Ezgi Karaca, Kerstin Becker, Manja Kloss, Sebahattin Cirak, Gilbert Wunderlich, Peter Nürnberg

Publikováno v: Journal of Human Genetics. 64:803-813

Rapid progress has recently been made in the elucidation of the genetic basis of childhood-onset inherited generalized dystonia (IGD) due to the implementation of genomic sequencing methodologies. We identified four patients with childhood-onset IGD

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f47bd02c202594f7f10f725a8fd646aa
https://doi.org/10.1038/s10038-019-0625-1