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1

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chery, Alberto Burlina, Raymond C. Stevens, Beat Thöny, Nenad Blau

Journal:

Year:

2008

Language:

english

File:

PDF, 309 KB

english, 2008

2

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases ||

Blau, Nenad, Duran, Marinus, Gibson, K Michael, Dionisi Vici, Carlo

Year:

2014

Language:

english

File:

PDF, 16.03 MB

english, 2014

3

Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation

Shen, Nan, Heintz, Caroline, Thiel, Christian, Okun, Jürgen G., Hoffmann, Georg F., Blau, Nenad

Journal:

Molecular Genetics and Metabolism

Year:

2016

Language:

english

File:

PDF, 472 KB

english, 2016

4

Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency

Dr. Tom J. de Koning, Marinus Duran, Lambertus Dorland, Rob Gooskens, Emile van Schaftingen, Jaak Jaeken, Nenad Blau, Ruud Berger, Bwee Tien Poll-The

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 435 KB

english, 1998

5

Pediatric urolithiasis in Armenia: a study of 198 patients observed from 1991 to 1999

Ashot Sarkissian, A. Babloyan, Nina Arikyants, Albrecht Hesse, Nenad Blau, E. Leumann

Journal:

Pediatric Nephrology

Year:

2001

Language:

english

File:

PDF, 77 KB

english, 2001

6

Advances and challenges in phenylketonuria

Cary O. Harding, Nenad Blau

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 101 KB

english, 2010

7

Effect of antiepileptic drugs and reactive oxygen species on folate receptor 1 (FOLR1)-dependent 5-methyltetrahydrofolate transport

Thomas Opladen, Nenad Blau, Vincent Th. Ramaekers

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 568 KB

english, 2010

8

Cerebral folate deficiency: A neurometabolic syndrome?

Sarah Mangold, Nenad Blau, Thomas Opladen, Robert Steinfeld, Britta Weßling, Klaus Zerres, Martin Häusler

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 236 KB

english, 2011

9

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies

Nenad Blau, Julia B. Hennermann, Ulrich Langenbeck, Uta Lichter-Konecki

Journal:

Molecular Genetics and Metabolism

Year:

2011

Language:

english

File:

PDF, 1.27 MB

english, 2011

10

Tetrahydrobiopterin: biochemistry and pathophysiology

Werner, Ernst R., Blau, Nenad, Thöny, Beat

Journal:

Biochemical Journal

Year:

2011

Language:

english

File:

PDF, 1.15 MB

english, 2011

11

Laboratory Guide to the Methods in Biochemical Genetics || Enzymes and Metabolites of Carbohydrate Metabolism

Blau, Nenad, Duran, Marinius, Gibson, K. Michael

Year:

2008

Language:

english

File:

PDF, 430 KB

english, 2008

12

The neurochemistry of phenylketonuria

Robert Surtees, Nenad Blau

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 89 KB

english, 2000

13

Phenylketonuria Scientific Review Conference: State of the science and future research needs

Camp, Kathryn M., Parisi, Melissa A., Acosta, Phyllis B., Berry, Gerard T., Bilder, Deborah A., Blau, Nenad, Bodamer, Olaf A., Brosco, Jeffrey P., Brown, Christine S., Burlina, Alberto B., Burton, Bar

Journal:

Molecular Genetics and Metabolism

Year:

2014

Language:

english

File:

PDF, 869 KB

english, 2014

14

Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases || Disorders of Leucine, Isoleucine, and Valine Metabolism

Blau, Nenad, Duran, Marinus, Gibson, K Michael, Dionisi Vici, Carlo

Year:

2014

Language:

english

File:

PDF, 483 KB

english, 2014

15

Sapropterin dihydrochloride for phenylketonuria and tetrahydrobiopterin deficiency

Journal:

Expert Review of Endocrinology & Metabolism

Year:

2010

Language:

english

File:

PDF, 473 KB

english, 2010

16

Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency

Wassenberg, Tessa, Molero-Luis, Marta, Jeltsch, Kathrin, Hoffmann, Georg F., Assmann, Birgit, Blau, Nenad, Garcia-Cazorla, Angeles, Artuch, Rafael, Pons, Roser, Pearson, Toni S., Leuzzi, Vincenco, Mas

Journal:

Orphanet Journal of Rare Diseases

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

17

Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population

Wang, Ruifang, Shen, Nan, Ye, Jun, Han, Lianshu, Qiu, Wenjuan, Zhang, Huiwen, Liang, Lili, Sun, Yu, Fan, Yanjie, Wang, Lili, Wang, Yu, Gong, Zhuwen, Liu, Huili, Wang, Jianguo, Yan, Hui, Blau, Nenad, G

Journal:

Clinica Chimica Acta

Year:

2018

Language:

english

File:

PDF, 708 KB

english, 2018

18

Can untreated PKU patients escape from intellectual disability? A systematic review

van Vliet, Danique, van Wegberg, Annemiek M. J., Ahring, Kirsten, Bik-Multanowski, Miroslaw, Blau, Nenad, Bulut, Fatma D., Casas, Kari, Didycz, Bozena, Djordjevic, Maja, Federico, Antonio, Feillet, Fr

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 756 KB

english, 2018

19

Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC‐MS/MS analysis platform

Klinke, Glynis, Richter, Sylvia, Monostori, Péter, Schmidt‐Mader, Brigitte, García‐Cazorla, Angels, Artuch, Rafael, Christ, Stine, Opladen, Thomas, Hoffmann, Georg F., Blau, Nenad, Okun, Jürgen G.

Journal:

Journal of Inherited Metabolic Disease

Year:

2020

File:

PDF, 2.42 MB

2020

20

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes

Beat Thöny, Nenad Blau

Journal:

Year:

1997

Language:

english

File:

PDF, 136 KB

english, 1997

21

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families

Tanja Oppliger, Beat Thöny, Claudia Kluge, Ana Matasovic, Claus W. Heizmann, Alberto Ponzone, Marco Spada, Nenad Blau

Journal:

Year:

1997

Language:

english

File:

PDF, 191 KB

english, 1997

22

Dihydropteridine reductase deficiency: Physical structure of the QDPR gene, identification of two new mutations and genotype–phenotype correlations

Irma Dianzani, Luisa de Sanctis, Peter M. Smooker, Tamara J. Gough, Carla Alliaudi, Alfredo Brusco, Marco Spada, Nenad Blau, Marion Dobos, Hong-Ping Zhang, Nan Yang, Alberto Ponzone, Wilfred L. F. Arm

Journal:

Year:

1998

Language:

english

File:

PDF, 230 KB

english, 1998

23

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia

Tanja Scherer-Oppliger, Ana Matasovic, Stephanie Laufs, Harvey L. Levy, Elisabeth J. Quackenbush, Nenad Blau, Beat Thöny

Journal:

Year:

1999

Language:

english

File:

PDF, 163 KB

english, 1999

24

Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS

Nenad Blau, Tanja Scherer-Oppliger, Alessandra Baumer, Mariluce Riegel, Ana Matasovic, Albert Schinzel, Jaak Jaeken, Beat Thöny

Journal:

Year:

2000

Language:

english

File:

PDF, 261 KB

english, 2000

25

More transgenic mouse models of dopamine deficiency

Beat Thöny, Nenad Blau

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 75 KB

english, 2004

26

6-Pyruvoyl-tetrahydropterin synthase deficiency with mild hyperphenylalaninemia

Michelle K. Demos, Paula J. Waters, Hilary D. Vallance, Yolanda Lillquist, Nawal Makhseed, Keith Hyland, Nenad Blau, Mary B. Connolly

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 68 KB

english, 2005

27

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase

Beat Thöny, Nenad Blau

Journal:

Year:

2006

Language:

english

File:

PDF, 213 KB

english, 2006

28

Mutations in human monoamine-related neurotransmitter pathway genes

Jan Haavik, Nenad Blau, Beat Thöny

Journal:

Year:

2008

Language:

english

File:

PDF, 294 KB

english, 2008

29

Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency

Marcel R. Zurflüh, Johannes Zschocke, Martin Lindner, François Feillet, Céline Chery, Alberto Burlina, Raymond C. Stevens, Beat Thöny, Nenad Blau

Journal:

Year:

2008

Language:

english

File:

PDF, 74 KB

english, 2008

30

Disease-causing mutations improving the branch site and polypyrimidine tract: Pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail

David Meili, Jana Kralovicova, Julian Zagalak, Luisa Bonafé, Laura Fiori, Nenad Blau, Beat Thöny, Igor Vorechovsky

Journal:

Year:

2009

Language:

english

File:

PDF, 480 KB

english, 2009

31

Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency

Emmanuel Roze, Marie Vidailhet, Nenad Blau, Lisbeth Birk Moller, Diane Doummar, Thierry Billette de Villemeur, Anne Roubergue

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 96 KB

english, 2006

32

Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?

Lena Elisabeth Hjermind, Lis Gitte Johannsen, Nenad Blau, Ron Allan Wevers, Christoph-Burkhard Lucking, Jens Michael Hertz, Lars Friberg, Lisbeth Regeur, Jørgen Erik Nielsen, Sven Asger Sørensen

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 94 KB

english, 2006

33

Sepiapterin reductase deficiency: Two Indian siblings with unusual clinical features

Gurusidheshwar M. Wali, Beat Thony, Nenad Blau

Journal:

Movement Disorders

Year:

2010

Language:

english

File:

PDF, 477 KB

english, 2010

34

Effect of Collection and Preprocessing Methods on Neutrophil Elastase Plasma Concentrations

Joachim E Fischer, Martin Janousek, Marianne Fischer, Federico G Seifarth, Nenad Blau, Sergio Fanconi

Journal:

Clinical Biochemistry

Year:

1998

Language:

english

File:

PDF, 546 KB

english, 1998

35

Induction of tetrahydrobiopterin synthesis in human umbilical vein smooth muscle cells by inflammatory stimuli

Roland Walter, Philippe Linscheid, Nenad Blau, Lucja Kierat, Andreas Schaffner, Gabriele Schoedon

Journal:

Immunology Letters

Year:

1998

Language:

english

File:

PDF, 165 KB

english, 1998

36

Amino acid composition of brain cysts: levels of excitatory amino acids in cyst fluid fail to predict seizures

Heinz-Gregor Wieser, Uwe Rudolph, Nenad Blau, Detlev Boison, Hans-Georg Imhof, René Bernays, Yasuhiro Yonekawa

Journal:

Epilepsy Research

Year:

2003

Language:

english

File:

PDF, 94 KB

english, 2003

37

Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency

Giovanna Zorzi, Beat Thöny, Nenad Blau

Journal:

Journal of Neurochemistry

Year:

2002

Language:

english

File:

PDF, 114 KB

english, 2002

38

Retrovirus-Mediated Double Transduction of the GTPCH and PTPS Genes Allows 6-Pyruvoyltetrahydropterin Synthase-Deficient Human Fibroblasts to Synthesize and Release Tetrahydrobiopterin

Stephanie Laufs, Nenad Blau, Beat Thöny

Journal:

Journal of Neurochemistry

Year:

1998

Language:

english

File:

PDF, 823 KB

english, 1998

39

Epidermal H2O2 Accumulation Alters Tetrahydrobiopterin (6BH4) Recycling in Vitiligo: Identification of a General Mechanism in Regulation of All 6BH4-Dependent Processes?

Schallreuter, Karin U., Moore, Jeremy, Wood, John M., Beazley, Wayne D., Peters, Eva M. J., Marles, Lee K., Behrens-Williams, Stefanie C., Dummer, Reinhard, Blau, Nenad, Thony, Beat

Journal:

The Journal of Investigative Dermatology

Year:

2001

Language:

english

File:

PDF, 322 KB

english, 2001

40

Pre- and postnatal diagnosis of tyrosine hydroxylase deficiency

Lisbeth Birk Møller, Anne Romstad, Marianne Paulsen, Pia Hougaard, Aida Ormazabal, Mercé Pineda, Nenad Blau, Flemming Güttler, Rafael Artuch

Journal:

Prenatal Diagnosis

Year:

2005

Language:

english

File:

PDF, 84 KB

english, 2005

41

CNBr-cleavage of proteins on blots and subsequent separation of the fragments by polyacryamide gel electrophoresis (PAGE) directly from those blots

Gerhard Frank, Udo Redweik, Monika Rümbeli, Gabriele Schoedon, Nenad Blau

Journal:

The Protein Journal

Year:

1992

Language:

english

File:

PDF, 360 KB

english, 1992

42

Monamine oxidase inhibitors in tetrahydrobiopterin deficiency

Agnes Schuler, Nenad Blau, Alberto Ponzone

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 120 KB

english, 1995

43

Diagnostic potential of neutrophil elastase inhibitor complex in the routine care of critically ill newborn infants

Joachim E. Fischer, Anna Brunner, Martin Janousek, David Nadal, Nenad Blau, Sergio Fanconi

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 66 KB

english, 2000

44

Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria

Thomas Opladen, Marcel Zurflüh, Ilse Kern, Lucja Kierat, Beat Thöny, Nenad Blau

Journal:

European Journal of Pediatrics

Year:

2005

Language:

english

File:

PDF, 188 KB

english, 2005

45

Nephrolithiasis in a child with glucose-galactose malabsorption

Velibor Tasic, Nevenka Slaveska, Nenad Blau, René Santer

Journal:

Pediatric Nephrology

Year:

2004

Language:

english

File:

PDF, 120 KB

english, 2004

46

Atypical presentation of distal renal tubular acidosis in two siblings

Velibor Tasic, Petar Korneti, Zoran Gucev, Bernd Hoppe, Nenad Blau, Hae Il Cheong

Journal:

Pediatric Nephrology

Year:

2008

Language:

english

File:

PDF, 168 KB

english, 2008

47

Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly: answers

Velibor Tasic, Vladimir J. Lozanovski, Zoran Gucev, Nenad Blau, Hae Il Cheong, John A. Sayer

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 76 KB

english, 2011

48

Failure to thrive and nephrolithiasis in a boy with congenital cyanotic heart anomaly—questions

Velibor Tasic, Vladimir J. Lozanovski, Zoran Gucev, Nenad Blau, Hae Il Cheong, John A. Sayer

Journal:

Pediatric Nephrology

Year:

2011

Language:

english

File:

PDF, 114 KB

english, 2011

49

Influence of nutrition on urinary oxalate and calcium in preterm and term infants

Bernd Hoppe, Albrecht Hesse, Thomas Neuhaus, Sergio Fanconi, Nenad Blau, Bernd Roth, Ernst Leumann

Journal:

Pediatric Nephrology

Year:

1997

Language:

english

File:

PDF, 140 KB

english, 1997

50

Heterozygous mutation in 5’-untranslated region of sepiapterin reductase gene(SPR)in a patient with dopa-responsive dystonia

Daniela Steinberger, Nenad Blau, Dimitri Goriuonov, Juliane Bitsch, Michael Zuker, Sibylla Hummel, Ulrich Müller

Journal:

Year:

2004

Language:

english

File:

PDF, 184 KB

english, 2004