Johannes Häberle
Johannes Häberle
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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
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
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
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
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
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
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
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
Clinical practice
J Häberle
European journal of pediatrics 170 (1), 21-34, 2011
Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene
K Engel, W Höhne, J Häberle
Human mutation 30 (3), 300-307, 2009
Clinical and biochemical aspects of primary and secondary hyperammonemic disorders
J Häberle
Archives of biochemistry and biophysics 536 (2), 101-108, 2013
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
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
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
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
Genetic approach to prenatal diagnosis in urea cycle defects
J Häberle, HG Koch
Prenatal Diagnosis: Published in Affiliation With the International Society …, 2004
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
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
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
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
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