Follow
Johannes Häberle
Johannes Häberle
University Children's Hospital Zurich, Zurich, Switzerland
Verified email at kispi.uzh.ch
Title
Cited by
Cited by
Year
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
7022012
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
3682018
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
3622019
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
2532015
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
2432015
Population Dynamics of Persistent Staphylococcus aureus Isolated from the Airways of Cystic Fibrosis Patients during a 6-Year Prospective Study
BC Kahl, A Duebbers, G Lubritz, J Haeberle, HG Koch, B Ritzerfeld, ...
Journal of clinical microbiology 41 (9), 4424-4427, 2003
2312003
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
2212021
Congenital glutamine deficiency with glutamine synthetase mutations
J Häberle, B Görg, F Rutsch, E Schmidt, A Toutain, JF Benoist, A Gelot, ...
New England Journal of Medicine 353 (18), 1926-1933, 2005
2072005
Clinical presentation and outcome in a series of 88 patients with the cblC defect
S Fischer, M Huemer, M Baumgartner, F Deodato, D Ballhausen, A Boneh, ...
Journal of inherited metabolic disease 37, 831-840, 2014
1582014
Urea cycle disorders—update
S Matsumoto, J Häberle, J Kido, H Mitsubuchi, F Endo, K Nakamura
Journal of human genetics 64 (9), 833-847, 2019
1572019
Clinical practice: the management of hyperammonemia
J Häberle
European journal of pediatrics 170 (1), 21-34, 2011
1472011
Clinical and biochemical aspects of primary and secondary hyperammonemic disorders
J Häberle
Archives of biochemistry and biophysics 536 (2), 101-108, 2013
1412013
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany
S Kölker, SF Garbade, N Boy, EM Maier, T Meissner, C Mühlhausen, ...
Pediatric research 62 (3), 357-363, 2007
1252007
The natural history of classic galactosemia: lessons from the GalNet registry
ME Rubio-Gozalbo, M Haskovic, AM Bosch, B Burnyte, AI Coelho, ...
Orphanet journal of rare diseases 14, 1-11, 2019
1152019
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene
K Engel, W Höhne, J Häberle
Human mutation 30 (3), 300-307, 2009
1142009
Lipid nanoparticle-targeted mRNA therapy as a treatment for the inherited metabolic liver disorder arginase deficiency
B Truong, G Allegri, XB Liu, KE Burke, X Zhu, SD Cederbaum, J Häberle, ...
Proceedings of the National Academy of Sciences 116 (42), 21150-21159, 2019
1012019
Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy
SH Kevelam, M Bugiani, GS Salomons, A Feigenbaum, S Blaser, ...
Brain 136 (5), 1534-1543, 2013
982013
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders
CM Rüegger, M Lindner, D Ballhausen, MR Baumgartner, S Beblo, A Das, ...
Journal of inherited metabolic disease 37, 21-30, 2014
922014
Clinical implementation of RNA sequencing for Mendelian disease diagnostics
VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ...
Genome medicine 14 (1), 38, 2022
912022
Inborn error of amino acid synthesis: human glutamine synthetase deficiency
J Häberle, B Görg, A Toutain, F Rutsch, JF Benoist, A Gelot, AL Suc, ...
Journal of inherited metabolic disease 29, 352-358, 2006
912006
The system can't perform the operation now. Try again later.
Articles 1–20