Determinanten für den Phänotyp der Citrullinämie Typ I

Applicant Professor Dr. Johannes Häberle

Subject Area Pediatric and Adolescent Medicine

Term from 2005 to 2009

Project identifier Deutsche Forschungsgemeinschaft (DFG) - Project number 5439598

Final Report Year 2009

Final Report Abstract

No abstract available

(2008) Analysis of residual enzyme activities in citruWinemia type I by in vitro expression studies. J Inher Metab Dis 31 (S1): 88
Berning C, Bleger I. Pauli S, Vermeulen T, Rolinski B, Gempel K, Häberle J
(2008) Glutamine Synthetase is essential for proliferation of fetal skin fibroblasts. Arch Biochem Biophys 478: 96-102
Vermeulen T, Görg B, Vogl T, Wolf M, Varga G, Toutain A, Paul R, Schliess F, Häussinger D, Häberle J
(2008) Investigation of citrullinemia type l variants by in vitro expression studies. Hum Mutat 29: 1222-1227
Berning C, Bieger I, Pauli S, Vermeulen T, Vogl T, Rummel T, Höhne W, Koch HG, Rolinski B, Gempel K, Häberle J
(2008) Transmission ratio distortion in citrullinemia type I. Eur J Pediatr 167: 373
Engel K, Klaus V, Ott T, Gromoll J, Simoni M, Kleijer W, Nieschlag E, Harms E, Häberle J
(2009) Highly variable clinical phenotype of carbamylphosphate synthetase 1 defidency in one family: an effect of allelic variation in gene expression? Clin Genet 75: 263-269
Klaus V, Vermeulen T, Minassian B, Israelian N, Engel K, Lund AM, Roebrock K, Christensen E, Häberle J
(2009) Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene, Hum Mutat 30: 300-307
Engel K, Höhne W, Häberle J
(2009) Severe first manifestation of citrullinemia type I In the postpartum period. Mol Genet Metab 98: S142
Häberle J, Meli C, Parini R, Rigoldi M, Vilaseca MA