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Hediger, Nina; Landolt, Markus A; Diez-Fernandez, Carmen; Huemer, Martina; Häberle, Johannes (2018). The impact of ammonia levels and dialysis on outcome in 202 patients with neonatal onset urea cycle disorders. Journal of Inherited Metabolic Disease, 41(4):689-698.

Soria, Leandro R; Allegri, Gabriella; Melck, Dominique; Pastore, Nunzia; Annunziata, Patrizia; Paris, Debora; Polishchuk, Elena; Nusco, Edoardo; Thöny, Beat; Motta, Andrea; Häberle, Johannes; Ballabio, Andrea; Brunetti-Pierri, Nicola (2018). Enhancement of hepatic autophagy increases ureagenesis and protects against hyperammonemia. Proceedings of the National Academy of Sciences of the United States of America, 115(2):391-396.

Kose, Engin; Unal, Ozlem; Bulbul, Selda; Gunduz, Mehmet; Häberle, Johannes; Arslan, Nur (2017). Identification of three novel mutations in fourteen patients with citrullinemia type 1. Clinical Biochemistry, 50(12):686-689.

Grünert, Sarah Catharina; Schlatter, Sonja Marina; Schmitt, Robert Niklas; Gemperle-Britschgi, Corinne; Mrázová, Lenka; Balcı, Mehmet Cihan; Bischof, Felix; Çoker, Mahmut; Das, Anibh M; Demirkol, Mübeccel; de Vries, Maaike; Gökçay, Gülden; Häberle, Johannes; Uçar, Sema Kalkan; Lotz-Havla, Amelie Sophia; Lücke, Thomas; Roland, Dominique; Rutsch, Frank; Santer, René; Schlune, Andrea; Staufner, Christian; Schwab, Karl Otfried; Mitchell, Grant A; Sass, Jörn Oliver (2017). 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: Clinical presentation and outcome in a series of 37 patients. Molecular Genetics and Metabolism, 121(3):206-215.

Gallego-Villar, L; Hannibal, L; Häberle, Johannes; Thöny, Beat; Ben-Omran, T; Nasrallah, G K; Dewik, Al-N; Kruger, W D; Blom, H J (2017). Cysteamine revisited: repair of arginine to cysteine mutations. Journal of Inherited Metabolic Disease, 40(4):555-567.

Grisch-Chan, Hiu Man; Schlegel, Andrea; Scherer, Tanja; Allegri, Gabriella; Heidelberger, Raphael; Tsikrika, Panagiota; Schmeer, Marco; Schleef, Martin; Harding, Cary O; Häberle, Johannes; Thöny, Beat (2017). Low-dose gene therapy for murine PKU using episomal naked DNA vectors expressing PAH from Its endogenous liver promoter. Molecular Therapy - Nucleic Acids, 7:339-349.

Nettesheim, Susanne; Kölker, Stefan; Karall, Daniela; Häberle, Johannes; Posset, Roland; Hoffmann, Georg F; Heinrich, Beate; Gleich, Florian; Garbade, Sven F; Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS), ? (2017). Incidence, disease onset and short-term outcome in urea cycle disorders -cross-border surveillance in Germany, Austria and Switzerland. Orphanet Journal of Rare Diseases, 12(1):111.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Häberle, Johannes (2017). Mutations in the Human Argininosuccinate Synthetase (ASS1) Gene, Impact on Patients, Common Changes, and Structural Considerations. Human Mutation, 38(5):471-484.

Diez-Fernandez, Carmen; Häberle, Johannes (2017). Targeting CPS1 in the treatment of Carbamoyl phosphate synthetase 1 (CPS1) deficiency, a urea cycle disorder. Expert Opinion on Therapeutic Targets, 21(4):391-399.

Laemmle, Alexander; Stricker, Tamar; Häberle, Johannes (2017). Switch from sodium phenylbutyrate to glycerol phenylbutyrate improved metabolic stability in an adolescent with ornithine transcarbamylase deficiency. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 31. Berlin, Heidelberg: Springer, 11-14.

Allegri, Gabriella; Deplazes, Sereina; Grisch-Chan, Hiu Man; Mathis, Déborah; Fingerhut, Ralph; Häberle, Johannes; Thöny, Beat (2017). A simple dried blood spot-method for in vivo measurement of ureagenesis by gas chromatography–mass spectrometry using stable isotopes. Clinica Chimica Acta, 464:236-243.

Reigstad, Hallvard; Woldseth, Berit; Häberle, Johannes (2017). Normal Neurological Development During Infancy Despite Massive Hyperammonemia in Early Treated NAGS Deficiency. JIMD Reports, 37:45-47.

Lauber, Matthias; Plecko, Barbara; Pfiffner, Miriam; Nuoffer, Jean-Marc; Häberle, Johannes (2017). The effect of S-adenosylmethionine on self-mutilation in a patient with Lesch-Nyhan disease. In: Morava, E; Baumgartner, M; Patterson, M; Rahman, S; Zschocke, J; Peters, V. JIMD Reports, Volume 32. Berlin, Heidelberg: Springer, 51-57.

Diez-Fernandez, Carmen; Rüfenacht, Véronique; Santra, Saikat; Lund, Allan M; Santer, René; Lindner, Martin; Tangeraas, Trine; Unsinn, Caroline; de Lonlay, Pascale; Burlina, Alberto; van Karnebeek, Clara D M; Häberle, Johannes (2016). Defective hepatic bicarbonate production due to carbonic anhydrase VA deficiency leads to early-onset life-threatening metabolic crisis. Genetics in Medicine, 18(10):991-1000.

Diez-Fernandez, Carmen; Wellauer, Olivia; Gemperle, Corinne; Rüfenacht, Véronique; Fingerhut, Ralph; Häberle, Johannes (2016). Kinetic mutations in argininosuccinate synthetase deficiency: characterisation and in vitro correction by substrate supplementation. Journal of Medical Genetics, 53(10):710-719.

Posset, Roland; Garcia-Cazorla, Angeles; Valayannopoulos, Vassili; Teles, Elisa Leão; Dionisi-Vici, Carlo; Brassier, Anaïs; Burlina, Alberto B; Burgard, Peter; Cortès-Saladelafont, Elisenda; Dobbelaere, Dries; Couce, Maria L; Sykut-Cegielska, Jolanta; Häberle, Johannes; Lund, Allan M; Chakrapani, Anupam; Schiff, Manuel; Walter, John H; Zeman, Jiri; Vara, Roshni; Kölker, Stefan; E-IMD consortium (2016). Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders. Journal of Inherited Metabolic Disease, 39(5):661-672.

Unsinn, Caroline; Das, Anibh; Valayannopoulos, Vassili; Thimm, Eva; Beblo, Skadi; Burlina, Alberto; Konstantopoulou, Vassiliki; Mayorandan, Sebene; de Lonlay, Pascale; Rennecke, Jörg; Derbinski, Jens; Hoffmann, Georg F; Häberle, Johannes (2016). Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001-2013. Orphanet Journal of Rare Diseases, 11(1):116.

Sancho-Vaello, Enea; Marco-Marín, Clara; Gougeard, Nadine; Fernández-Murga, Leonor; Rüfenacht, Véronique; Mustedanagic, Merima; Rubio, Vicente; Häberle, Johannes (2016). Understanding N-acetyl-L-glutamate synthase deficiency: mutational spectrum, impact of clinical mutations on enzyme functionality, and structural considerations. Human Mutation, 37(7):679-694.

Inauen, Corinne; Rüfenacht, Véronique; Pandey, Amit V; Hu, Liyan; Blom, Henk; Nuoffer, Jean-Marc; Häberle, Johannes (2016). Effect of cysteamine on mutant ASL proteins with cysteine for arginine substitutions. Molecular Diagnosis & Therapy, 20(2):125-133.

Huemer, Martina; Carvalho, Daniel R; Brum, Jaime M; Ünal, Özlem; Coskun, Turgay; Weisfeld-Adams, James D; Schrager, Nina L; Scholl-Bürgi, Sabine; Schlune, Andrea; Donner, Markus G; Hersberger, Martin; Gemperle, Claudio; Riesner, Brunhilde; Ulmer, Hanno; Häberle, Johannes; Karall, Daniela (2016). Clinical phenotype, biochemical profile, and treatment in 19 patients with arginase 1 deficiency. Journal of Inherited Metabolic Disease, 39(3):331-340.

Häberle, Johannes; Rubio, V (2016). Disorders of the urea cycle and related enzymes. In: Saudubray, J M; Baumgartner, M; Walter, J H. Inborn metabolic diseases. Berlin Heidelberg: Springer Verlag, 295-308.

Laemmle, Alexander; Gallagher, Renata C; Keogh, Adrian; Stricker, Tamar; Gautschi, Matthias; Nuoffer, Jean-Marc; Baumgartner, Matthias R; Häberle, Johannes (2016). Frequency and pathophysiology of acute liver failure in Ornithine Transcarbamylase Deficiency (OTCD). PLoS ONE, 11(4):e0153358.

Alfadhel, Majid; Mutairi, Fuad Al; Makhseed, Nawal; Jasmi, Fatma Al; Al-Thihli, Khalid; Al-Jishi, Emtithal; AlSayed, Moeenaldeen; Al-Hassnan, Zuhair N; Al-Murshedi, Fathiya; Häberle, Johannes; Ben-Omran, Tawfeg (2016). Guidelines for acute management of hyperammonemia in the Middle East region. Therapeutics and Clinical Risk Management, 12:479-487.

Häberle, Johannes; Hasselmann, Oswald (2016). Neurometabolik für den Pädiater. Paediatrica, Vol. 27(5):8-11.

Häberle, Johannes; Sayarifard, F; Hadipour, F; Hadipour, Z; Shafeghati, Y; Sagheb, S; Sarkhail, P (2016). The first Iranian case of N-acetyl-Glutamate synthase (NAGS) deficiency treated with N-carbamylglutamate. American Journal of Medical Case Reports, 4(12):384-388.

Hu, Liyan; Ibrahim, Khalid; Stucki, Martin; Frapolli, Michele; Shahbeck, Noora; Chaudhry, Farrukh A; Görg, Boris; Häussinger, Dieter; Penberthy, W Todd; Ben-Omran, Tawfeg; Häberle, Johannes (2015). Secondary NAD(+) deficiency in the inherited defect of glutamine synthetase. Journal of Inherited Metabolic Disease, 38(6):1075-1083.

Hu, Liyan; Pandey, Amit V; Balmer, Cécile; Eggimann, Sandra; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Unstable argininosuccinate lyase in variant forms of the urea cycle disorder argininosuccinic aciduria. Journal of Inherited Metabolic Disease, 38(5):815-827.

Schiff, Manuel; Haberberger, Birgit; Xia, Chuanwu; Mohsen, Al-Walid; Goetzman, Eric S; Wang, Yudong; Uppala, Radha; Zhang, Yuxun; Karunanidhi, Anuradha; Prabhu, Dolly; Alharbi, Hana; Prochownik, Edward V; Haack, Tobias; Häberle, Johannes; Munnich, Arnold; Rötig, Agnes; Taylor, Robert W; Nicholls, Robert D; Kim, Jung-Ja; Prokisch, Holger; Vockley, Jerry (2015). Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency. Human Molecular Genetics, 24(11):3238-3247.

Díez-Fernández, Carmen; Gallego, José; Häberle, Johannes; Cervera, Javier; Rubio, Vicente (2015). The study of carbamoyl phosphate synthetase 1 deficiency sheds light on the mechanism for switching on/off the urea cycle. Journal of genetics and genomics = Yi chuan xue bao, 42(5):249-60.

Van Karnebeek, C; Häberle, Johannes (2015). Carbonic Anhydrase VA Deficiency. Seattle, University of Washington.

Laemmle, Alexander; Hahn, Dagmar; Hu, Liyan; Rüfenacht, Véronique; Gautschi, Matthias; Leibundgut, Kurt; Nuoffer, Jean-Marc; Häberle, Johannes (2015). Fatal hyperammonemia and carbamoyl phosphate synthetase 1 (CPS1) deficiency following high-dose chemotherapy and autologous hematopoietic stem cell transplantation. Molecular Genetics and Metabolism, 114(3):438-444.

Häberle, Johannes (2015). Diagnose und Therapie der Harnstoffzyklusdefekte. Kinder- und Jugendmedizin, 15(2):119-125.

Bijarnia-Mahay, Sunita; Häberle, Johannes; Rüfenacht, Véronique; Shigematsu, Yosuke; Saxena, Renu; Verma, Ishwar C (2015). Citrin deficiency: A treatable cause of acute psychosis in adults. Neurology India, 63(2):220-222.

Häberle, Johannes; Huemer, Martina (2015). Evaluation of Implementation, Adaptation and Use of the Recently Proposed Urea Cycle Disorders Guidelines. JIMD Reports, 21:65-70.

Rivera-Barahona, Ana; Sánchez-Alcudia, Rocío; Viecelli, Hiu Man; Rüfenacht, Veronique; Pérez, Belén; Ugarte, Magdalena; Häberle, Johannes; Thöny, Beat; Desviat, Lourdes Ruiz (2015). Functional characterization of the spf/ash splicing variation in OTC deficiency of mice and man. PLoS ONE, 10(4):e0122966.

Häberle, Johannes (2015). Glutamine Supplementation in Glutamine Synthetase Deficiency. In: Rajendram, Rajkumar; Preedy, Victor R; Patel, Vinood B. Glutamine in Clinical Nutrition. New York: Springer, 427-436.

Stoller, Fabienne; Schlegel, Andrea; Viecelli, Hiu Man; Rüfenacht, Véronique; Cesarovic, Nikola; Viecelli, Claudio; Deplazes, Sereina; Bettschart-Wolfensberger, Regula; Hurter, Karin; Schmierer, Philipp A; Sidler, Xaver; Kron, Philipp; Dutkowski, Philipp; Graf, Rolf; Thöny, Beat; Häberle, Johannes (2015). Hepatocyte transfection in small pigs after weaning by hydrodynamic intraportal injection of naked DNA/minicircle vectors. Human Gene Therapy. Methods, 26(5):181-192.

Kölker, Stefan; Dobbelaere, Dries; Häberle, Johannes; Burgard, Peter; Gleich, Florian; Summar, Marshall L; Hannigan, Steven; Parker, Samantha; Chakrapani, Anupam; Baumgartner, Matthias R (2015). Networking across borders for individuals with organic acidurias and urea cycle disorders: the E-IMD consortium. In: Zschocke, Johannes; Baumgartner, Matthias; Morava, Eva; Patterson, Marc; Rahman, Shamima; Peters, Verena. JMID Reports. Berlin Heidelberg: Springer, 29-38.

Hu, Liyan; Diez-Fernandez, Carmen; Rüfenacht, Véronique; Hismi, Burcu Öztürk; Unal, Ozlem; Soyucen, Erdogan; Coker, Mahmut; Bayraktar, Bilge Tanyeri; Gunduz, Mehmet; Kiykim, Ertugrul; Olgac, Asburce; Pérez-Tur, Jordi; Rubio, Vicente; Häberle, Johannes (2014). Recurrence of carbamoyl phosphate synthetase 1 (CPS1) deficiency in Turkish patients: Characterization of a founder mutation by use of recombinant CPS1 from insect cells expression. Molecular Genetics and Metabolism, 113(4):267-273.

Fischer, Sabine; Huemer, Martina; Baumgartner, Matthias; Deodato, Federica; Ballhausen, Diana; Boneh, Avihu; Burlina, Alberto B; Cerone, Roberto; Garcia, Paula; Gökçay, Gülden; Grünewald, Stephanie; Häberle, Johannes; Jaeken, Jaak; Ketteridge, David; Lindner, Martin; Mandel, Hanna; Martinelli, Diego; Martins, Esmeralda G; Schwab, Karl O; Gruenert, Sarah C; Schwahn, Bernd C; Sztriha, László; Tomaske, Maren; Trefz, Friedrich; Vilarinho, Laura; Rosenblatt, David S; Fowler, Brian; Dionisi-Vici, Carlo (2014). Clinical presentation and outcome in a series of 88 patients with the cblC defect. Journal of Inherited Metabolic Disease, 37(5):831-840.

Díez-Fernández, Carmen; Hu, Liyan; Cervera, Javier; Häberle, Johannes; Rubio, Vicente (2014). Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: Effects of CPS1 mutations that concentrate in a central domain of unknown function. Molecular Genetics and Metabolism, 112(2):123-132.

Laemmle, Alexander; Balmer, Christian; Doell, Carsten; Sass, Jörn Oliver; Häberle, Johannes; Baumgartner, Matthias R (2014). Propionic acidemia in a previously healthy adolescent with acute onset of dilated cardiomyopathy. European Journal of Pediatrics, 173(7):971-974.

Rüegger, Corinne M; Lindner, Martin; Ballhausen, Diana; Baumgartner, Matthias R; Beblo, Skadi; Das, Anibh; Gautschi, Matthias; Glahn, Esther M; Grünert, Sarah C; Hennermann, Julia; Hochuli, Michel; Huemer, Martina; Karall, Daniela; Kölker, Stefan; Lachmann, Robin H; Lotz-Havla, Amelie; Möslinger, Dorothea; Nuoffer, Jean-Marc; Plecko, Barbara; Rutsch, Frank; Santer, René; Spiekerkoetter, Ute; Staufner, Christian; Stricker, Tamar; Wijburg, Frits A; Williams, Monique; Burgard, Peter; Häberle, Johannes (2014). Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. Journal of Inherited Metabolic Disease, 37(1):21-30.

Balmer, Cécile; Pandey, Amit V; Rüfenacht, Véronique; Nuoffer, Jean-Marc; Fang, Ping; Wong, Lee-Jun; Häberle, Johannes (2014). Mutations and polymorphisms in the human argininosuccinate lyase (ASL) gene. Human Mutation, 35(1):27-35.

Häberle, Johannes (2014). Hyperammonämie. Monatsschrift Kinderheilkunde, 162(4):341-353.

Häberle, Johannes (2014). Orphan drugs in development for urea cycle disorders: Current perspectives. Orphan Drugs: Research and Reviews, 2014(4):63-70.

Hu, Liyan; Pandey, Amit V; Eggimann, Sandra; Rüfenacht, Véronique; Möslinger, Dorothea; Nuoffer, Jean-Marc; Häberle, Johannes (2013). Understanding the role of argininosuccinate lyase transcript variants in the clinical and biochemical variability of the urea cycle disorder argininosuccinic aciduria. Journal of Biological Chemistry, 288(48):34599-34611.

Fantur, Michaela; Karall, Daniela; Scholl-Buergi, Sabine; Häberle, Johannes; Rauchenzauner, Markus; Fruehwirth, Martin (2013). Recurrent somnolence in a 17-month-old infant: late-onset ornithine transcarbamylase (OTC) deficiency due to the novel hemizygous mutation c.535C > T (p.Leu179Phe). European Journal of Paediatric Neurology, 17(1):112-115.

Houten, Sander M; Te Brinke, Heleen; Denis, Simone; Ruiter, Jos Pn; Knegt, Alida C; de Klerk, Johannis Bc; Augoustides-Savvopoulou, Persephone; Häberle, Johannes; Baumgartner, Matthias R; Coşkun, Turgay; Zschocke, Johannes; Sass, Jörn Oliver; Poll-The, Bwee Tien; Wanders, Ronald Ja; Duran, Marinus (2013). Genetic basis of hyperlysinemia. Orphanet Journal of Rare Diseases, 8:57.

Gupta, Neerja; Kabra, Madhulika; Häberle, Johannes (2012). Mutation analysis of Indian patients with urea cycle defects. Indian Pediatrics, 49(7):585-586.

Kretz, Rita; Hu, Liyan; Wettstein, Véronique; Leiteritz, Dana; Häberle, Johannes (2012). Phytohemagglutinin stimulation of lymphocytes improves mutation analysis of carbamoylphosphate synthetase 1. Molecular Genetics and Metabolism, 106(3):375-378.

Häberle, Johannes; Boddaert, Nathalie; Burlina, Alberto; Chakrapani, Anupam; Dixon, Marjorie; Huemer, Martina; Karall, Daniela; Martinelli, Diego; Crespo, Pablo Sanjurjo; Santer, René; Servais, Aude; Valayannopoulos, Vassili; Lindner, Martin; Rubio, Vicente; Dionisi-Vici, Carlo (2012). Suggested guidelines for the diagnosis and management of urea cycle disorders. Orphanet Journal of Rare Diseases, 7:32.

Zampatti, Stefania; Castori, Marco; Fischer, Bjoern; Ferrari, Paola; Garavelli, Livia; Dionisi-Vici, Carlo; Agolini, Emanuele; Wischmeijer, Anita; Morava, Eva; Novelli, Giuseppe; Häberle, Johannes; Kornak, Uwe; Brancati, Francesco (2012). De Barsy Syndrome: a genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. American Journal of Medical Genetics. Part A, 158A(4):927-931.

Karall, Daniela; Haberlandt, Edda; Albrecht, Ursula; Rostasy, Kevin; Häberle, Johannes; Scholl-Bürgi, Sabine (2012). Unrecognized citrullinemia mimicking encephalitis in a 14-year-old boy: unexpected result through the use of a standardized lumbar puncture protocol. Neuropediatrics, 43(2):59-63.

Engel, Katharina; Vuissoz, Jean-Marc; Eggimann, Sandra; Groux, Murielle; Berning, Christoph; Hu, Liyan; Klaus, Vera; Moeslinger, Dorothea; Mercimek-Mahmutoglu, Saadet; Stöckler, Sylvia; Wermuth, Bendicht; Häberle, Johannes; Nuoffer, Jean-Marc (2012). Bacterial expression of mutant argininosuccinate lyase reveals imperfect correlation of in-vitro enzyme activity with clinical phenotype in argininosuccinic aciduria. Journal of Inherited Metabolic Disease, 35(1):133-140.

This list was generated on Tue Nov 13 19:55:07 2018 CET.