Johannes Häberle
Johannes Häberle
Unknown affiliation
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), 32, 2012
3262012
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
1872003
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
1542005
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 38 (6), 1041-1057, 2015
1302015
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 (6), 1059-1074, 2015
1152015
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
972007
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
862018
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 (5), 831-840, 2014
862014
Clinical practice
J Häberle
European journal of pediatrics 170 (1), 21-34, 2011
862011
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene
K Engel, W Höhne, J Häberle
Human mutation 30 (3), 300-307, 2009
862009
Clinical and biochemical aspects of primary and secondary hyperammonemic disorders
J Häberle
Archives of biochemistry and biophysics 536 (2), 101-108, 2013
802013
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
722013
Mild citrullinemia in Caucasians is an allelic variant of argininosuccinate synthetase deficiency (citrullinemia type 1)
J Häberle, S Pauli, E Schmidt, B Schulze-Eilfing, C Berning, HG Koch
Molecular genetics and metabolism 80 (3), 302-306, 2003
702003
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 (2-3), 352-358, 2006
622006
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 (1), 21-30, 2014
612014
Genetic approach to prenatal diagnosis in urea cycle defects
J Häberle, HG Koch
Prenatal Diagnosis: Published in Affiliation With the International Society …, 2004
612004
Structure of the human argininosuccinate synthetase gene and an improved system for molecular diagnostics in patients with classical and mild citrullinemia
J Häberle, S Pauli, M Linnebank, W Kleijer, H Bakker, R Wanders, ...
Human genetics 110 (4), 327-333, 2002
612002
Argininosuccinate lyase (ASL) deficiency: mutation analysis in 27 patients and a completed structure of the human ASL gene
M Linnebank, E Tschiedel, J Häberle, A Linnebank, H Willenbring, ...
Human genetics 111 (4-5), 350-359, 2002
572002
Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency
J Häberle
Therapeutics and clinical risk management 7, 327, 2011
552011
Neonatal screening for citrullinaemia
J Sander, N Janzen, S Sander, U Steuerwald, AM Das, S Scholl, FK Trefz, ...
European journal of pediatrics 162 (6), 417-420, 2003
492003
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