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Kose, E; Kuyum, P; Aksoy, B; Häberle, J; Arslan, N; Ozturk, Y (2018). First report of carglumic acid in a patient with citrullinemia type 1 (argininosuccinate synthetase deficiency). Journal of Clinical Pharmacy and Therapeutics, 43(1):124-128.

Yudkoff, M; Summar, M; Häberle, J; Sarafoglu, K; Hoffmann, Georg F; Roth, KS (2017). Urea cycle disorders. In: Hofmann, G F; Roth, K S; Sarafoglu, K. Pediatric endocrinology and inborn errors of metabolism. New York: McGrawHill, 191-208.

Karthikeyan, G; Jagadeesh, Sujatha; Seshadri, Suresh; Häberle, J (2013). Citrullinemia type 1: genetic diagnosis and prenatal diagnosis in subsequent pregnancy. Indian Pediatrics, 50(10):965-966.

Martinelli, D; Häberle, J; Rubio, V; Giunta, C; Hausser, I; Carrozzo, R; Gougeard, N; Marco-Marín, C; Goffredo, B M; Meschini, M C; Bevivino, E; Boenzi, S; Colafati, G S; Brancati, F; Baumgartner, M R; Dionisi-Vici, C (2012). Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine. Journal of Inherited Metabolic Disease, 35(5):761-776.

Häberle, J (2011). Varianten von Harnstoffzyklusstörungen. Monatsschrift Kinderheilkunde, 159(9):834-841.

Häberle, J; Shchelochkov, O A; Wang, J; Katsonis, P; Hall, L; Reiss, S; Eeds, A; Willis, A; Yadav, M; Summar, S; Lichtarge, O; Rubio, V; Wong, L J; Summar, M (2011). Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Human Mutation, 32(6):579-589.

Häberle, J; Shahbeck, N; Ibrahim, K; Hoffmann, G F; Ben-Omran, Ta (2011). Natural course of glutamine synthetase deficiency in a 3 year old patient. Molecular Genetics and Metabolism, 103(1):89-91.

Häberle, J (2011). Role of mutation analysis for the diagnosis of inborn errors of metabolism. Clinical Biochemistry, 44(7):473.

Faghfoury, H; Baruteau, J; de Baulny, H O; Häberle, J; Schulze, A (2011). Transient fulminant liver failure as an initial presentation in citrullinemia type I. Molecular Genetics and Metabolism, 102(4):413-417.

Häberle, J (2011). Clinical practice: the management of hyperammonemia. European Journal of Pediatrics, 170(1):21-34.

Wang, J; Shchelochkov, O A; Zhan, H; Li, F; Chen, L C; Brundage, E K; Pursley, A N; Schmitt, E S; Häberle, J; Wong, L J C (2011). Molecular characterization of CPS1 deletions by array CGH. Molecular Genetics and Metabolism, 102(1):103-106.

Amstutz, U; Andrey-Zürcher, G; Suciu, D; Jaggi, R; Häberle, J; Largiadèr, C R (2011). Sequence capture and next-generation resequencing of multiple tagged nucleic acid samples for mutation screening of urea cycle disorders. Clinical Chemistry, 57(1):102-111.

Kretz, R; Bozorgmehr, B; Kariminejad, M H; Rohrbach, M; Hausser, I; Baumer, A; Baumgartner, M; Giunta, C; Kariminejad, A; Häberle, J (2011). Defect in proline synthesis: pyrroline-5-carboxylate reductase 1 deficiency leads to a complex clinical phenotype with collagen and elastin abnormalities. Journal of Inherited Metabolic Disease, 34(3):731-739.

Häberle, J (2011). Role of carglumic acid in the treatment of acute hyperammonemia due to N-acetylglutamate synthase deficiency. Therapeutics and Clinical Risk Management, (7):327-332.

Häberle, J; Vilaseca, M A; Meli, C; Rigoldi, M; Jara, F; Vecchio, I; Capra, C; Parini, R (2010). First manifestation of citrullinemia type I as differential diagnosis to postpartum psychosis in the puerperal period. European Journal of Obstetrics and Gynecology and Reproductive Biology, 149(2):228-229.

Serrano, M; Pérez-Dueñas, B; Gómez-López, L; Murgui, E; Fons, C; García-Cazorla, A; Artuch, R; Jara, F; Arranz, J A; Häberle, J; Briones, P; Campistol, J; Pineda, M; Vilaseca, M A (2010). Neuropsychiatric manifestations in Late-Onset urea cycle disorder patients. Journal of Child Neurology, 25(3):352-358.

Fingerhut, R; De Jesus Silva Arevalo, G; Baumgartner, M R; Häberle, J; Rohrbach, M; Figueroa, A W; Fresse, E M; Polanco, O L; Torresani, T (2010). Postprandial changes of amino acid and acylcarnitine concentrations in dried blood samples. Journal of Inherited Metabolic Disease, 33(Sup 2):S235-S239.

Engel, K; Höhne, W; Häberle, J (2009). Mutations and polymorphisms in the human argininosuccinate synthetase (ASS1) gene. Human Mutation, 30(3):300-307.

Klaus, V; Vermeulen, T; Minassian, B; Israelian, N; Engel, K; Lund, A M; Roebrock, K; Christensen, E; Häberle, J (2009). Highly variable clinical phenotype of carbamylphosphate synthetase 1 deficiency in one family: an effect of allelic variation in gene expression? Clinical Genetics, 76(3):263-269.

Pauli, S; Pieper, L; Häberle, J; Grzmil, P; Burfeind, P; Steckel, M; Lenz, U; Michelmann, H W (2009). Proven germline mosaicism in a father of two children with CHARGE syndrome. Clinical Genetics, 75(5):473-479.

Vermeulen, T; Marquardt, T; Häberle, J (2009). Pseudodeficiency of glutamine in infant liver disease. Amino Acids, 37(2):435-437.

Häberle, J; Pauli, S; Berning, C; Koch, H G; Linnebank, M (2009). TC II deficiency: avoidance of false-negative molecular genetics by RNA-based investigations. Journal of Human Genetics, 54(6):331-334.

Scholl-Bürgi, S; Baumgartner Sigl, S; Häberle, J; Haberlandt, E; Rostásy, K; Ertl, C; Eichinger-Öttl, U; Heinz-Erian, P; Karall, D (2008). Amino acids in CSF and plasma in hyperammonaemic coma due to arginase1 deficiency. Journal of Inherited Metabolic Disease, 31(S2):323-328.

This list was generated on Sun Jun 16 04:45:37 2019 CEST.