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Koht, J; Rengmark, A; Opladen, T; Bjørnarå, K A; Selberg, T; Tallaksen, C M E; Blau, N; Toft, M (2014). Clinical and genetic studies in a family with a novel mutation in the sepiapterin reductase gene. Acta Neurologica Scandinavica. Supplementum, 129(s198):7-12.

Scaglia, F; Blau, N (2014). Disorders of Folate Metabolism and Transport. In: Blau, N; Duran, M; Gibson, K M; Dionisi-Vici, C. Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. s.n.: Springer-Verlag, 167-178.

Sass, Jörn Oliver; Grünert, Sarah C (2014). Disorders of Ketone Body Metabolism. In: Blau, N; Duran, Marinus; Gibson, K M; Dionisi-Vici, Carlo. Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases. Heidelberg: Springer-Verlag Berlin, 361-371.

Blau, Nenad; van Spronsen, Francjan J (2014). Disorders of Phenylalanine and Tetrahydrobiopterin Metabolism. In: Blau, N; Duran, M; Gibson, K M; Dionisi-Vici, C. Physician's Guide to the Diagnosis, Treatment, and Follow-up of Inherited Metabolic Diseases. s.n.: Springer-Verlag, 3-21.

Simaite, D; Kofent, J; Gong, M; Ruschendorf, F; Jia, S; Arn, P; Bentler, K; Ellaway, C; Kuhnen, P; Hoffmann, G F; Blau, N; Spagnoli, F M; Hubner, N; Raile, K (2014). Recessive mutations in PCBD1 cause a new type of early-onset diabetes. Diabetes, 63(10):3557-3564.

Blau, N; Opladen, T (2013). Tetrahydrobiopterin deficiencies and epilepsy. In: Pearl, P L. Inherited Metabolic Epilepsies. New York: Demos Medical Publishing, 159-166.

Dill, P; Wagner, M; Somerville, A; Thöny, B; Blau, N; Weber, P (2012). Child neurology: paroxysmal stiffening, upward gaze, and hypotonia: hallmarks of sepiapterin reductase deficiency. Neurology, 78(5):e29-32.

Zimmermann, M; Jacobs, P; Fingerhut, R; Torresani, T; Thöny, B; Blau, N; Baumgartner, M R; Rohrbach, M (2012). Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis. Molecular Genetics and Metabolism, 106(3):264-268.

Mangold, S; Blau, N; Opladen, T; Steinfeld, R; Weßling, B; Zerres, K; Häusler, Martin (2011). Cerebral folate deficiency: A neurometabolic syndrome? Molecular Genetics and Metabolism, 104(3):369-372.

Dill, P; Schneider, J; Weber, P; Trachsel, D; Tekin, M; Jakobs, C; Thöny, B; Blau, N (2011). Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM). Molecular Genetics and Metabolism, 104(3):362-368.

Cario, H; Smith, D E C; Blom, H; Blau, N; Bode, H; Holzmann, K; Pannicke, U; Hopfner, K P; Rump, E M; Ayric, Z; Kohne, E; Debatin, K M; Smulders, Y; Schwarz, K (2011). Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease. American Journal of Human Genetics, 88(2):226-231.

Dobrowolski, S F; Heintz, C; Miller, T; Ellingson, C; Ellingson, C; Ozer, I; Gökçay, G; Baykal, T; Thöny, B; Demirkol, M; Blau, N (2011). Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population. Molecular Genetics and Metabolism, 102(2):116-121.

Adamsen, D; Meili, D; Blau, N; Thöny, B; Ramaekers, V (2011). Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants. Molecular Genetics and Metabolism, 102(3):368-373.

Hersberger, M; Blau, N (2011). Diagnose von Stoffwechselkrankheiten. In: Hagemann, P; Scholer, A. Lehrbuch Aktuelle Urindiagnostik. Rotkreuz: Labolife-Verlagsgesellschaft, 159-179.

Opladen, T; Abu Seda, B; Rassi, A; Thöny, B; Hoffmann, G F; Blau, N (2011). Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience. Journal of Inherited Metabolic Disease, 34(3):819-826.

Blau, N; Hennermann, J B; Langenbeck, U; Lichter-Konecki, U (2011). Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies. Molecular Genetics and Metabolism, 104(Suppl.):S2-S9.

Tasic, V; Lozanovski, V J; Gucev, Z; Blau, N; Cheong, H I; Sayer, J A (2011). Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly. Pediatric Nephrology, 26(12):2153-2157.

Management of phenylketonuria: current position. Edited by: Blau, N; MacDonald, A; van Spronsen, F J (2011). Amsterdam, The Netherlands: Elsevier.

Nalin, T; Perry, I D; Sitta, A; Vargas, C R; Saraiva-Pereira, M L; Giugliani, R; Blau, N; Schwartz, I V (2011). Optimized loading test to evaluate responsiveness to tetrahydrobiopterin (BH4) in Brazilian patients with phenylalanine hydroxylase deficiency. Molecular Genetics and Metabolism, 104(Suppl.):S80-S85.

Werner, E R; Blau, N; Thöny, B (2011). Tetrahydrobiopterin: biochemistry and pathophysiology. Biochemical Journal, 438(3):397-414.

Staudigl, M; Gersting, S W; Danecka, M K; Messing, D D; Woidy, M; Pinkas, D; Kemter, K F; Blau, N; Muntau, A C (2011). The interplay between genotype, metabolic state and cofactor treatment governs phenylalanine hydroxylase function and drug response. Human Molecular Genetics, 20(13):2628-2641.

Kostandyan, N; Britschgi, C; Matevosyan, A; Oganezova, A; Davtyan, A; Blau, N; Steinmann, B; Thöny, B (2011). The spectrum of phenylketonuria genotypes in the Armenian population: identification of three novel mutant PAH alleles. Molecular Genetics and Metabolism, 104(Suppl.):S93-S96.

Harding, C O; Blau, N (2010). Advances and challenges in phenylketonuria. Journal of Inherited Metabolic Disease, 33(6):645-648.

Opladen, T; Okun, J G; Burgard, P; Blau, N; Hoffmann, G F (2010). Phenylalanine loading in pediatric patients with dopa-responsive dystonia: revised test protocol and pediatric cutoff values. Journal of Inherited Metabolic Disease, 33(6):697-703.

Opladen, T; Blau, N; Ramaekers, V T (2010). Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport. Molecular Genetics and Metabolism, 101(1):48-54.

Feillet, F; van Spronsen, F J; MacDonald, A; Trefz, F K; Demirkol, M; Giovannini, M; Bélanger-Quintana, A; Blau, N (2010). Challenges and pitfalls in the management of phenylketonuria. Pediatrics, 126(2):333-341.

Brun, L; Ngu, L H; Keng, W T; Ch'ng, G S; Choy, Y S; Hwu, W L; Lee, W T; Willemsen, M A A P; Verbeek, M M; Wassenberg, T; Régal, L; Orcesi, S; Tonduti, D; Accorsi, P; Testard, H; Abdenur, J E; Tay, S; Allen, G F; Heales, S; Kern, I; Kato, M; Burlina, A; Manegold, C; Hoffmann, G F; Blau, N (2010). Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology, 75(1):64-71.

Blau, N (2010). Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency. Expert Review of Endocrinology & Metabolism, 5(4):483-494.

Willemsen, M A; Verbeek, M M; Kamsteeg, E J; de Rijk-van Andel, J F; Aeby, A; Blau, N; Burlina, A; Donati, M A; Geurtz, B; Grattan-Smith, P J; Haeussler, M; Hoffmann, G F; Jung, H; de Klerk, J B; van der Knaap, M S; Kok, F; Leuzzi, V; de Lonlay, P; Megarbane, A; Monaghan, H; Renier, W O; Rondot, P; Ryan, M M; Seeger, J; Smeitink, J A; Steenbergen-Spanjers, G C; Wassmer, E; Weschke, B; Wijburg, F A; Wilcken, B; Zafeiriou, D I; Wevers, R A (2010). Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain: A Journal of Neurology, 133(6):1810-1822.

Blau, N; Bélanger-Quintana, A; Demirkol, M; Feillet, F; Giovannini, M; Macdonald, A; Trefz, F K; van Spronsen, F (2010). Management of phenylketonuria in Europe: Survey results from 19 countries. Molecular Genetics and Metabolism, 99(2):109-115.

Hasselmann, O; Blau, N; Ramaekers, V T; Quadros, E V; Sequeira, J M; Weissert, M (2010). Cerebral folate deficiency and CNS inflammatory markers in Alpers disease. Molecular Genetics and Metabolism, 99(1):58-61.

Spasovski, G; Beck, B B; Blau, N; Hoppe, B; Tasic, V (2010). Late diagnosis of primary hyperoxaluria after failed kidney transplantation. International Urology and Nephrology, 42(3):825-829.

de Groot, M J; Hoeksma, M; Blau, N; Reijngoud, D J; van Spronsen, F J (2010). Pathogenesis of cognitive dysfunction in phenylketonuria: review of hypotheses. Molecular Genetics and Metabolism, 99(Sup 1):S86-S89.

Leuzzi, V; Carducci, C A; Carducci, C L; Pozzessere, S; Burlina, A; Cerone, R; Concolino, D; Donati, M A; Fiori, L; Meli, C; Ponzone, A; Porta, F; Strisciuglio, P; Antonozzi, I; Blau, N (2010). Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. Clinical Genetics, 77(3):249-257.

Blau, N; van Spronsen, F J; Levy, H L (2010). Phenylketonuria. Lancet, 376(9750):1417-1427.

Phenylketonuria and BH4 deficiencies. Edited by: Blau, N; Burton, B K; Thöny, B; van Spronsen, F J; Waisbren, S (2010). Bremen: UNI-MED Verlag AG.

Wali, G M; Thony, B; Blau, N (2010). Sepiapterin reductase deficiency: two Indian siblings with unusual clinical features. Movement Disorders, 25(7):954-955.

Kusmierska, K; Jansen, E E W; Jakobs, C; Szymanska, K; Malunowicz, E; Meilei, D; Thony, B; Blau, N; Tryfon, J; Rokicki, D; Pronicka, E; Sykut-Cegielska, J (2009). Sepiapterin reductase deficiency in a 2-year-old girl with incomplete response to treatment during short-term follow-up. Journal of Inherited Metabolic Disease, 32(S1):5-10.

Meili, D; Kralovicova, J; Zagalak, J; Bonafé, L; Fiori, L; Blau, N; Thöny, B; Vorechovsky, I (2009). Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail. Human Mutation, 30(5):823-831.

Burlina, A; Blau, N (2009). Effect of BH(4) supplementation on phenylalanine tolerance. Journal of Inherited Metabolic Disease, 32(1):40-45.

Karacic, I; Meili, D; Sarnavka, V; Heintz, C; Thony, B; Petkovic Ramadza, D; Fumic, K; Mardesic, D; Baric, I; Blau, N (2009). Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency. Molecular Genetics and Metabolism, 97(3):165-171.

Vatanavicharn, N; Kuptanon, C; Liammongkolkul, S; Liu, T T; Hsiao, K J; Ratanarak, P; Blau, N; Wasant, P (2009). Novel mutation affecting the pterin-binding site of PTS gene and review of PTS mutations in Thai patients with 6-pyruvoyltetrahydropterin synthase deficiency. Journal of Inherited Metabolic Disease, 32(S1):279-282.

Blau, N; Bélanger-Quintana, A; Demirkol, M; Feillet, F; Giovannini, M; MacDonald, A; Trefz, F K; van Spronsen, F J (2009). Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria. Molecular Genetics and Metabolism, 96(4):158-163.

Gramer, G; Garbade, S F; Blau, N; Lindner, M (2009). Pharmacokinetics of tetrahydrobiopterin following oral loadings with three single dosages in patients with phenylketonuria. Journal of Inherited Metabolic Disease, 32(1):52-57.

Verbeek, M M; Willemsen, M A; Wevers, R A; Lagerwerf, A J; Abeling, N G; Blau, N; Thöny, B; Vargiami, E; Zafeiriou, D I (2008). Two Greek siblings with sepiapterin reductase deficiency. Molecular Genetics and Metabolism, 94(4):403-409.

Tasic, V; Korneti, P; Gucev, Z; Hoppe, B; Blau, N; Cheong, H I (2008). Atypical presentation of distal renal tubular acidosis in two siblings. Pediatric Nephrology, 23(7):1177-1181.

Blau, N; Opladen, T (2008). Folates. In: Blau, N; Duran, M; Gibson, K M. Laboratory guide to the methods in biochemical genetics. Berlin Heidelberg, Germany: Springer Verlag, 717-724.

Laboratory guide to the methods in biochemical genetics. Edited by: Blau, N; Duran, M; Gibson, K M (2008). Berlin Heidelberg, Germany: Springer Verlag.

Hersberger, M; Rohrer, L; von Eckardstein, A (2008). Lipoproteins. In: Blau, N; Duran, M; Gibson, K M. The Laboratory Guide to the Methods in Biochemical Genetics. Berlin Heidelberg, Germany: Springer Verlag, 497-548.

Blau, N (2008). Oxalate, glycolate, glycerate, sulfate, and citrate. In: Blau, N; Duran, M; Gibson, K M. Laboratory guide to the methods in biochemical genetics. Berlin Heidelberg, Germany: Springer Verlag, 233-243.

Blau, N; Thöny, B (2008). Pterins and related enzymes. In: Blau, N; Duran, M; Gibson, K M. Laboratory guide to the methods in biochemical genetics. Berlin Heidelberg, Germany: Springer Verlag, 665-701.

Ramaekers, V T; Sequeira, J M; Blau, N; Quadros, E V (2008). A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome. Developmental Medicine and Child Neurology, 50(5):346-352.

Horvath, G A; Stockler-Ipsiroglu, S G; Salvarinova-Zivkovic, R; Lillquist, Y P; Connolly, M; Hyland, K; Blau, N; Rupar, T; Waters, P J (2008). Autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia: Evidence of a phenotypic continuum between dominant and recessive forms. Molecular Genetics and Metabolism, 94(1):127-131.

Cosentino, F; Hürlimann, D; Delli Gatti, C; Chenevard, R; Blau, N; Alp, N J; Channon, K M; Eto, M; Lerch, P; Enseleit, F; Ruschitzka, F; Volpe, M; Lüscher, T F; Noll, G (2008). Chronic treatment with tetrahydrobiopterin reverses endothelial dysfunction and oxidative stress in hypercholesterolaemia. Heart, 94(4):487-492.

Bosshard, N U; Steinmann, B (2008). Enzymes and metabolites of carbohydrate metabolism. In: Blau, N; Duran, K M. Laboratory Guide to the Methods in Biochemical Genetics. Berlin: Springer Verlag, 417-471.

Garcia-Cazorla, A; Quadros, E V; Nascimento, A; Garcia-Silva, M T; Briones, P; Montoya, J; Ormazábal, A; Artuch, R; Sequeira, J M; Blau, N; Arenas, J; Pineda, M; Ramaekers, V T (2008). Mitochondrial diseases associated with cerebral folate deficiency. Neurology, 70(16):1360-1362.

Zurflüh, M R; Zschocke, J; Lindner, M; Feillet, F; Chery, C; Burlina, A; Stevens, R C; Thöny, B; Blau, N (2008). Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Human Mutation, 29(1):167-175.

Haavik, J; Blau, N; Thöny, B (2008). Mutations in human monoamine-related neurotransmitter pathway genes. Human Mutation, 29(7):891-902.

Jäggi, L; Zurflüh, M R; Schuler, A; Ponzone, A; Porta, F; Fiori, L; Giovannini, M; Santer, R; Hoffmann, G F; Ibel, H; Wendel, U; Ballhausen, D; Baumgartner, M R; Blau, N (2008). Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Molecular Genetics and Metabolism, 93(3):295-305.

Thöny, B; Calvo, A C; Scherer, T; Svebak, R M; Haavik, J; Blau, N; Martinez, A (2008). Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase. Journal of Neurochemistry, 106(2):672-681.

Tanner, F C; van der Loo, B; Shaw, S; Greutert, H; Bachschmid, M M; Berrozpe, M; Rozenberg, I; Blau, N; Siebenmann, R; Schmidli, J; Meyer, P; Lüscher, T F (2007). Inactivity of nitric oxide synthase gene in the atherosclerotic human carotid artery. Basic Research in Cardiology, 102(4):308-317.

Elzaouk, L; Leimbacher, W; Turri, M; Ledermann, B; Burki, K; Blau, N; Thony, B (2003). Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin. Journal of Biological Chemistry, 278(30):28303-28311.

This list was generated on Tue Dec 12 13:59:03 2017 CET.