受强制性开放获取政策约束的文章 - Johannes Häberle了解详情
无法在其他位置公开访问的文章：14 篇
Clinical and biochemical aspects of primary and secondary hyperammonemic disorders
J Häberle
Archives of biochemistry and biophysics 536 (2), 101-108, 2013
强制性开放获取政策： Swiss National Science Foundation
Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
D Martinelli, J Häberle, V Rubio, C Giunta, I Hausser, R Carrozzo, ...
Journal of inherited metabolic disease 35, 761-776, 2012
强制性开放获取政策： Government of Spain
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerations
C Diez‐Fernandez, V Rüfenacht, C Gemperle, R Fingerhut, J Häberle
Human mutation 39 (8), 1029-1050, 2018
强制性开放获取政策： Swiss National Science Foundation
Investigation of citrullinemia type I variants by in vitro expression studies
C Berning, I Bieger, S Pauli, T Vermeulen, T Vogl, T Rummel, W Höhne, ...
Human mutation 29 (10), 1222-1227, 2008
强制性开放获取政策： German Research Foundation
First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period
J Häberle, MA Vilaseca, C Meli, M Rigoldi, F Jara, I Vecchio, C Capra, ...
European Journal of Obstetrics and Gynecology and Reproductive Biology 149 …, 2010
强制性开放获取政策： German Research Foundation
Role of liver transplantation in urea cycle disorders: Report from a nationwide study in Japan
J Kido, S Matsumoto, J Häberle, Y Inomata, M Kasahara, S Sakamoto, ...
Journal of Inherited Metabolic Disease 44 (6), 1311-1322, 2021
强制性开放获取政策： Swiss National Science Foundation, 国家自然科学基金委员会
Glutamine synthetase is essential for proliferation of fetal skin fibroblasts
T Vermeulen, B Görg, T Vogl, M Wolf, G Varga, A Toutain, R Paul, ...
Archives of biochemistry and biophysics 478 (1), 96-102, 2008
强制性开放获取政策： German Research Foundation
Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1
R Kretz, L Hu, V Wettstein, D Leiteritz, J Häberle
Molecular genetics and metabolism 106 (3), 375-378, 2012
强制性开放获取政策： Swiss National Science Foundation
Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation
A Laemmle, D Hahn, L Hu, V Rüfenacht, M Gautschi, K Leibundgut, ...
Molecular genetics and metabolism 114 (3), 438-444, 2015
强制性开放获取政策： Swiss National Science Foundation
Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation
C Diez-Fernandez, O Wellauer, C Gemperle, V Rüfenacht, R Fingerhut, ...
Journal of Medical Genetics 53 (10), 710-719, 2016
强制性开放获取政策： Swiss National Science Foundation, US National Institutes of Health
Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age‐dependency of …
G Allegri, S Deplazes, N Rimann, B Causton, T Scherer, JW Leff, ...
Journal of inherited metabolic disease 42 (6), 1064-1076, 2019
强制性开放获取政策： Swiss National Science Foundation
Genetic and Functional Characterization of ADAMTS13 Variants in a Patient Cohort with Upshaw–Schulman Syndrome Investigated in Germany
WA Hassenpflug, T Obser, J Bode, F Oyen, U Budde, S Schneppenheim, ...
Thrombosis and Haemostasis 118 (04), 709-722, 2018
强制性开放获取政策： German Research Foundation
Expression and function of the urea cycle in widely‐used hepatic cellular models
G Makris, L Veit, V Rüfenacht, S Klassa, N Zürcher, S Matsumoto, M Poms, ...
Journal of Inherited Metabolic Disease, 2024
强制性开放获取政策： Swiss National Science Foundation
First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency)
E Kose, P Kuyum, B Aksoy, J Häberle, N Arslan, Y Ozturk
Journal of clinical pharmacy and therapeutics 43 (1), 124-128, 2018
强制性开放获取政策： Swiss National Science Foundation
可在其他位置公开访问的文章：93 篇
Suggested guidelines for the diagnosis and management of urea cycle disorders
J Häberle, N Boddaert, A Burlina, A Chakrapani, M Dixon, M Huemer, ...
Orphanet journal of rare diseases 7, 1-30, 2012
强制性开放获取政策： Swiss National Science Foundation, Government of Spain
Treatment of a metabolic liver disease by in vivo genome base editing in adult mice
L Villiger, HM Grisch-Chan, H Lindsay, F Ringnalda, CB Pogliano, ...
Nature medicine 24 (10), 1519-1525, 2018
强制性开放获取政策： Swiss National Science Foundation
Suggested guidelines for the diagnosis and management of urea cycle disorders: first revision
J Häberle, A Burlina, A Chakrapani, M Dixon, D Karall, M Lindner, ...
Journal of inherited metabolic disease 42 (6), 1192-1230, 2019
强制性开放获取政策： Swiss National Science Foundation, Government of Spain
In vivo adenine base editing of PCSK9 in macaques reduces LDL cholesterol levels
T Rothgangl, MK Dennis, PJC Lin, R Oka, D Witzigmann, L Villiger, W Qi, ...
Nature biotechnology 39 (8), 949-957, 2021
强制性开放获取政策： Swiss National Science Foundation, US National Institutes of Health
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
S Kölker, AG Cazorla, V Valayannopoulos, AM Lund, AB Burlina, ...
Journal of Inherited Metabolic Disease: Official Journal of the Society for …, 2015
强制性开放获取政策： National Institute for Health Research, UK
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
S Kölker, V Valayannopoulos, AB Burlina, J Sykut-Cegielska, FA Wijburg, ...
Journal of inherited metabolic disease 38, 1059-1074, 2015
强制性开放获取政策： National Institute for Health Research, UK
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