heiBIB: Blau, Nenad

Blau, Nenad Prof. Dr.Universität HeidelbergHeidelberg

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englisch (69)

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Publikationen in heiBIB

Burlina, Alberto: Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency : the northeastern Italian experience / Alberto Burlina, Antonella Giuliani, Giulia Polo, Daniela Gueraldi, Vincenza Gragnaniello, Chiara Ca… , 13 March 2021. - 7 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 133(2021), 1, Seite 56-62
DOI: 10.1016/j.ymgme.2021.03.009
Hillert, Alicia: The genetic landscape and epidemiology of phenylketonuria / Alicia Hillert, Yair Anikster, Amaya Belanger-Quintana, Alberto Burlina, Barbara K. Burton, Carla Ca… , 14 July 2020. - 17 S.
In: The American journal of human genetics, ISSN 1537-6605. 107(2020), 2, Seite 234-250
DOI: 10.1016/j.ajhg.2020.06.006
Klinke, Glynis: Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform / Glynis Klinke, Sylvia Richter, Péter Monostori, Brigitte Schmidt‐Mader, Angels García‐Cazorla, Rafae… , 13 January 2020. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 43(2020), 4, Seite 712-725
DOI: 10.1002/jimd.12213
Horvath, Gabriela Ana: Clinical and biochemical footprints of inherited metabolic diseases : III. psychiatric presentations / Gabriella A. Horvath, Robert M. Stowe, Carlos R. Ferreira, Nenad Blau, 21 February 2020. - 6 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 130(2020), 1, Seite 1-6
DOI: 10.1016/j.ymgme.2020.02.007
Himmelreich, Nastassja: Aromatic amino acid decarboxylase deficiency : Molecular and metabolic basis and therapeutic outlook / Nastassja Himmelreich, Riccardo Montioli, Mariarita Bertoldi, Carla Carducci, Vincenzo Leuzzi, Corin… , 27 March 2019
In: Molecular genetics and metabolism, ISSN 1096-7206. 127(2019), 1, Seite 12-22
DOI: 10.1016/j.ymgme.2019.03.009
Ferreira Lopez, Carlos R: Clinical and biochemical footprints of inherited metabolic diseases : I. Movement disorders / Carlos R. Ferreira, Georg F. Hoffmann, Nenad Blau, 26 March 2019. - 3 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 127(2019), 1, Seite 28-30
DOI: 10.1016/j.ymgme.2019.03.007
Smith, Neil: Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter metabolites in healthy volunteers / Neil Smith, Nicola Longo, Keith Levert, Keith Hyland, Nenad Blau, 12 August 2019
In: Molecular genetics and metabolism reports, ISSN 2214-4269. 21(2019) Artikel-Nummer 100500, 3 Seiten
DOI: 10.1016/j.ymgmr.2019.100500
Smith, Neil: Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers / Neil Smith, Nicola Longo, Keith Levert, Keith Hyland, Nenad Blau, 10 February 2019. - 7 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 126(2019), 4, Seite 406-412
DOI: 10.1016/j.ymgme.2019.02.001
Ferreira Lopez, Carlos R: Clinical and biochemical footprints of inherited metabolic diseases : II. Metabolic liver diseases / Carlos R. Ferreira, David Cassiman, Nenad Blau, 12 April 2019. - 5 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 127(2019), 2, Seite 117-121
DOI: 10.1016/j.ymgme.2019.04.002
Pilotto, Andrea: Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria / Andrea Pilotto, Nenad Blau, Edytha Leks, Claudia Schulte, Christian Deuschl, Carl Zipser, David Piel… , 01 February 2019. - 9 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 42(2019), 3, Seite 398-406
DOI: 10.1002/jimd.12049
Manti, Filippo: Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism / Filippo Manti, Francesca Nardecchia, Sabina Barresi, Martina Venditti, Simone Pizzi, Fadi F. Hamdan,… , 2019. - 4 S.
In: Parkinsonism & related disorders, ISSN 1873-5126. 61(2019), Seite 207-210
DOI: 10.1016/j.parkreldis.2018.10.012
Almannai, Mohammed: 6-Pyruvoyltetrahydropterin synthase deficiency : review and report of 28 Arab subjects / Mohammed Almannai, Rana Felemban, Mohammed A. Saleh, Eissa A. Faqeih, Ali Alasmari, Amal AlHashem, S… , 18 February 2019. - 8 S.
In: Pediatric neurology, ISSN 1873-5150. 96(2019), Seite 40-47
DOI: 10.1016/j.pediatrneurol.2019.02.008
Jung, Kunwar: Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12 / Kunwar Jung‐KC, Nastassja Himmelreich, Karina S. Prestegård, Tie-Jun Sten Shi, Tanja Scherer, Ming Y… , 22 January 2019. - 12 S.
In: Human mutation, ISSN 1098-1004. 40(2019), 4, Seite 483-494
DOI: 10.1002/humu.23712
Muniz, Joao R. C.: Role of protein structure in variant annotation : structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency / Joao R.C. Muniz, Natalie Wing-Sum Szeto, Rebecca Frise, Wen Hwa Lee, Xian-Song Wang, Beat Thöny, Nas… , 8 March 2019. - 7 S.
In: Pathology, ISSN 1465-3931. 51(2019), 3, Seite 274-280
DOI: 10.1016/j.pathol.2018.11.011
Fernández-Lainez, Cynthia: Mutational spectrum of PTS gene and in silico pathological assessment of a novel variant in Mexico / Cynthia Fernández-Lainez, Isabel Ibarra-González, Miguel Ángel Alcántara-Ortigoza, Liliana Fernández… , 21 April 2018. - 7 S.
In: Brain & development, ISSN 1872-7131. 40(2018), 7, Seite 530-536
DOI: 10.1016/j.braindev.2018.03.014
Karnebeek, Clara D. M. van: Metabolic evaluation of epilepsy : a diagnostic algorithm with focus on treatable conditions / Clara D.M. van Karnebeek, Bryan Sayson, Jessica J.Y. Lee, Laura A. Tseng, Nenad Blau, Gabriella A. H… , 03 December 2018. - 12 S.
In: Frontiers in neurology, ISSN 1664-2295. 9(2018) Artikel-Nummer 1016, 12 Seiten
DOI: 10.3389/fneur.2018.01016
Zastrow, Diane B.: Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM) : the ClinGen IEM Working Group and the phenylalanine hydroxylase gene / Diane B. Zastrow, Heather Baudet, Wei Shen, Amanda Thomas, Yue Si, Meredith A. Weaver, Angela M. Lag… , 11 October 2018. - 12 S.
In: Human mutation, ISSN 1098-1004. 39(2018), 11, Seite 1569-1580
DOI: 10.1002/humu.23649
Lee, Jessica J.Y.: Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis / Jessica J.Y. Lee, Michael M. Gottlieb, Jake Lever, Steven J.M. Jones, Nenad Blau, Clara D.M. van Kar… , 16 January 2018. - 8 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 41(2018), 3, Seite 555-562
DOI: 10.1007/s10545-017-0125-4
Himmelreich, Nastassja: Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria / Nastassja Himmelreich, Nan Shen, Jürgen G. Okun, Christian Thiel, Georg F. Hoffmann, Nenad Blau, 23 June 2018. - 10 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 125(2018), 1, Seite 86-95
DOI: 10.1016/j.ymgme.2018.06.011
Sjaastad, Ottar: Homocarnosinosis : a historical update and findings in the SPG11 gene / O. Sjaastad, N. Blau, S.L. Rydning, V. Peters, O. Rødningen, A. Stray‐Pedersen, B. Krossnes, C. Tall… , 06 May 2018. - 6 S.
In: Acta neurologica Scandinavica, ISSN 1600-0404. 138(2018), 3, Seite 245-250
DOI: 10.1111/ane.12949
Ferreira Lopez, Carlos R: A proposed nosology of inborn errors of metabolism / Carlos R. Ferreira MD, Clara D.M. van Karnebeek MD, PhD, Jerry Vockley, Nenad Blau PhD, 2019. - 5 S.
In: Genetics in medicine, ISSN 1530-0366. 21(2019), 1, Seite 102-106
DOI: 10.1038/s41436-018-0022-8
Garbade, Sven: Allelic phenotype values : a model for genotype-based phenotype prediction in phenylketonuria / Sven F. Garbade, Nan Shen, Nastassja Himmelreich, Dorothea Haas, Friedrich K. Trefz, Georg F. Hoffma… , 2019. - 11 S.
In: Genetics in medicine, ISSN 1530-0366. 21(2019), 3, Seite 580-590
DOI: 10.1038/s41436-018-0081-x
Wang, Ruifang: Mutation spectrum of hyperphenylalaninemia candidate genes and the genotype-phenotype correlation in the Chinese population / Ruifang Wang, Nan Shen, Jun Ye, Lianshu Han, Wenjuan Qiu, Huiwen Zhang, Lili Liang, Yu Sun, Yanjie F… , 28 February 2018. - 7 S.
In: Clinica chimica acta, ISSN 1873-3492. 481(2018), Seite 132-138
DOI: 10.1016/j.cca.2018.02.035
Vliet, Danique van: Can untreated PKU patients escape from intellectual disability? : a systematic review / Danique van Vliet, Annemiek M.J. van Wegberg, Kirsten Ahring, Miroslaw Bik-Multanowski, Nenad Blau, … . -
London: BioMed Central, 29 August 2018. - 1 Online-Ressource (6 Seiten)
DOI: 10.1186/s13023-018-0890-7
Spronsen, F. J. van: Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia : from attention deficit to severe dystonia and intellectual disability / Francjan J. van Spronsen, Nastassja Himmelreich, Véronique Rüfenacht, Nan Shen, Danique van Vliet, M… , 2018. - 5 S.
In: Journal of medical genetics, ISSN 1468-6244. 55(2018), 4, Seite 249-253
DOI: 10.1136/jmedgenet-2017-104875
Lee, Jessica J.Y.: Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism / Jessica J.Y. Lee, Wyeth W. Wasserman, Georg F. Hoffmann, Clara D.M. van Karnebeek and Nenad Blau, 2018. - 8 S.
In: Genetics in medicine, ISSN 1530-0366. 20(2018), 1, Seite 151-158
DOI: 10.1038/gim.2017.108
Blau, Nenad: DNAJC12 deficiency : A new strategy in the diagnosis of hyperphenylalaninemias / Nenad Blau, Aurora Martinez, Georg F. Hoffmann, Beat Thöny, 2018. - 5 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 123(2018), 1, Seite 1-5
DOI: 10.1016/j.ymgme.2017.11.005
Spronsen, F. J. van: Issues with European guidelines for phenylketonuria - authors' reply / Francjan J van Spronsen, Annemiek MJ van Wegberg, Kirsten Ahring, Amaya Bélanger-Quintana, Nenad Bla… , 25 August 2017. - 2 S.
In: The lancet, ISSN 2213-8595. 5(2017), 9, Seite 683-684
DOI: 10.1016/S2213-8587(17)30202-4
Spronsen, F. J. van: Key European guidelines for the diagnosis and management of patients with phenylketonuria / Francjan J van Spronsen, Annemiek MJ van Wegberg, Kirsten Ahring, Amaya Bélanger-Quintana, Nenad Bla… , 10 January 2017. - 14 S. : Illustrationen
In: The lancet, ISSN 2213-8595. 5(2017), 9, Seite 743-756
DOI: 10.1016/S2213-8587(16)30320-5
Karin, Ivan: Folinic acid therapy in cerebral folate deficiency : marked improvement in an adult patient / Ivan Karin, Ingo Borggraefe, Claudia B. Catarino, Christoph Kuhm, Konstanze Hoertnagel, Saskia Bisku… . - 5 S.
In: Journal of neurology, ISSN 1432-1459. 264(2017), 3, S. 578-582
DOI: 10.1007/s00415-016-8387-6
Nardecchia, Francesca: Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiency / Francesca Nardecchia, Flavia Chiarotti, Claudia Carducci, Silvia Santagata, Giulia Valentini, Antoni… . - 8 S.
In: European journal of pediatrics, ISSN 1432-1076. 176(2017), 7, S. 917-924
DOI: 10.1007/s00431-017-2932-x
Straniero, Letizia: DNAJC12 and dopa-responsive nonprogressive parkinsonism / Letizia Straniero, PhD, Ilaria Guella, PhD, Roberto Cilia, MD, Laura Parkkinen, PhD, Valeria Rimoldi… , 11 September 2017. - 7 S.
In: Annals of neurology, ISSN 1531-8249. 82(2017), 4, Seite 640-646
DOI: 10.1002/ana.25048
Wegberg, Anna van: The complete European guidelines on phenylketonuria : diagnosis and treatment / A. M. J. van Wegberg; A. MacDonald; K. Ahring; A. Bélanger-Quintana; N. Blau; A. M. Bosch; A. Burlin… . -
London: BioMed Central, 2017. - 1 Online-Ressource
DOI: 10.1186/s13023-017-0685-2
Jung-Klawitter, Sabine: Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1 / Sabine Jung-Klawitter, Juliane Ebersold, Gudrun Göhring, Nenad Blau, Thomas Opladen, 24 February 2017. - 4 S.
In: Stem cell research, ISSN 1876-7753. 20(2017), Seite 38-41
DOI: 10.1016/j.scr.2017.02.010
Wassenberg, Tessa: Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency / Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau,… . -
London: BioMed Central, 18 January 2017. - 1 Online-Ressource (21 Seiten) : Diagramme
DOI: 10.1186/s13023-016-0522-z
Wassenberg, Tessa: Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency / Tessa Wassenberg, Marta Molero-Luis, Kathrin Jeltsch, Georg F. Hoffmann, Birgit Assmann, Nenad Blau,… , 18 January 2017
In: Orphanet journal of rare diseases, ISSN 1750-1172. 12(2017) Artikel-Nummer 12, 21 Seiten
DOI: 10.1186/s13023-016-0522-z
Korner, Germaine: Mildly compromised tetrahydrobiopterin cofactor biosynthesis due to Pts variants leads to unusual body fat distribution and abdominal obesity in mice / Germaine Korner, Tanja Scherer, Dea Adamsen, Alexander Rebuffat, Mark Crabtree, Anahita Rassi, Rossa… , 01 February 2016. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 2, Seite 309-319
DOI: 10.1007/s10545-015-9909-6
Shen, Nan: Co-expression of phenylalanine hydroxylase variants and effects of interallelic complementation on in vitro enzyme activity and genotype-phenotype correlation / Nan Shen, Caroline Heintz, Christian Thiel, Jürgen G. Okun, Georg F. Hoffmann, Nenad Blau, 12 January 2016. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 117(2016), 3, Seite 328-335
DOI: 10.1016/j.ymgme.2016.01.004
Blau, Nenad: Genetics of phenylketonuria : then and now / Nenad Blau, 26 February 2016. - 8 S.
In: Human mutation, ISSN 1098-1004. 37(2016), 6, Seite 508-515
DOI: 10.1002/humu.22980
Delmelle, Françoise: Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation / Françoise Delmelle, Beat Thöny, Philippe Clapuyt, Nenad Blau, Marie-Cécile Nassogne, 13 June 2016. - 5 S.
In: European journal of paediatric neurology, ISSN 1532-2130. 20(2016), 5, Seite 709-713
DOI: 10.1016/j.ejpn.2016.05.021
Pan, Yi: CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model / Yi Pan, Nan Shen, Sabine Jung-Klawitter, Christian Betzen, Georg F. Hoffmann, Jörg D. Hoheisel and N… , 27 October 2016. - 7 S.
In: Scientific reports, ISSN 2045-2322. 6(2016) Article number: 35794, 7 Seiten
DOI: 10.1038/srep35794
Trunzo, Roberta: In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU / Roberta Trunzo, Rosa Santacroce, Nan Shen, Sabine Jung-Klawitter, Angelica Leccese, Giuseppe De Giro… , 13 September 2016. - 6 S.
In: Gene, ISSN 1879-0038. 594(2016), 1, Seite 138-143
DOI: 10.1016/j.gene.2016.09.015
Jung-Klawitter, Sabine: Generation of an iPSC line from a patient with tyrosine hydroxylase (TH) deficiency: TH-1 iPSC / Sabine Jung-Klawitter, Nenad Blau, Attila Sebe, Juliane Ebersold, Gudrun Göhring, Thomas Opladen, 26 October 2016. - 4 S.
In: Stem cell research, ISSN 1876-7753. 17(2016), 3, Seite 580-583
DOI: 10.1016/j.scr.2016.10.008
Zielonka, Matthias: Dopamine-responsive growth-hormone deficiency and central hypothyroidism in sepiapterin reductase deficiency / Matthias Zielonka, Nawal Makhseed, Nenad Blau, Markus Bettendorf, Georg Friedrich Hoffmann, Thomas O… , 26 May 2015. - 5 S.
In: JIMD reports, ISSN 2192-8312. 24(2015), Seite 109-113
DOI: 10.1007/8904_2015_450
Graziano, Claudio: Syndromic intellectual disability : a new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant / Claudio Graziano, Anita Wischmeijer, Tommaso Pippucci, Carlo Fusco, Chiara Diquigiovanni, Margit Nõu… , 14 January 2015. - 5 S.
In: Gene, ISSN 1879-0038. 559(2015), 2, Seite 144-148
DOI: 10.1016/j.gene.2015.01.026
Giżewska, Maria: Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region : survey results / Maria Giżewska, Anita MacDonald, Amaya Bélanger-Quintana, Alberto Burlina, Maureen Cleary, Turgay Co… , 2016. - 12 S.
In: European journal of pediatrics, ISSN 1432-1076. 175(2016), Seite 261-272
DOI: 10.1007/s00431-015-2622-5
Blau, Nenad: Alternative therapies to address the unmet medical needs of patients with phenylketonuria / Nenad Blau, Nicola Longo. - 10 S.
In: Expert opinion on pharmacotherapy, ISSN 1744-7666. 16(2015), 6, S. 791-800
DOI: 10.1517/14656566.2015.1013030
Trefz, Friedrich K.: Tetrahydrobiopterin (BH4) responsiveness in neonates with hyperphenylalaninemia : a semi-mechanistically-based, nonlinear mixed-effect modeling / Friedrich Trefz, Olaf Lichtenberger, Nenad Blau, Ania C. Muntau, Francois Feillet, Amaya Bélanger-Qu… . - 6 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 114(2015), 4, S. 564-569
DOI: 10.1016/j.ymgme.2015.01.013
MacDonald, Anita: The challenges of managing coexistent disorders with phenylketonuria : 30 cases / A. MacDonald, K. Ahring, M.F. Almeida, A. Belanger-Quintana, N. Blau, A. Burlina, M. Cleary, T. Cosk… . - 10 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 116(2015), 4, S. 242-251
DOI: 10.1016/j.ymgme.2015.10.001
Physician's guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases / Nenad Blau; Marinus Duran; K. Michael Gibson; Carlo Dionisi-Vici, ed.. -
Heidelberg ; New York ; Dordrecht ; London: Springer, 2014. - XLV, 867 S. : Ill., graph. Darst., ISBN 978-3-642-40336-1
Physician's Guide to the Diagnosis, Treatment, and Follow-Up of Inherited Metabolic Diseases / edited by Nenad Blau, Marinus Duran, K Michael Gibson, Carlo Dionisi Vici. -
Berlin, Heidelberg ; s.l.: Springer Berlin Heidelberg, 2014. - Online-Ressource (XLV, 867 p. 163 illus., 82 illus. in color, online resource), ISBN 978-3-642-40337-8
(SpringerLink : Bücher)
DOI: 10.1007/978-3-642-40337-8
Wettstein, Sarah Beatrice: Linking genotypes database with locus-specific database and genotype-phenotype correlation in phenylketonuria / Sarah Wettstein, Jarl Underhaug, Belen Perez, Brian D Marsden, Wyatt W Yue, Aurora Martinez and Nena… , 2015. - 8 S.
In: European journal of human genetics, ISSN 1476-5438. 23(2015), 3, Seite 302-309
DOI: 10.1038/ejhg.2014.114
Blau, Nenad: Molecular genetics and diagnosis of phenylketonuria : state of the art / Nenad Blau, Nan Shen & Carla Carducci. - 7 S.
In: Expert review of molecular diagnostics, ISSN 1744-8352. 14(2014), 6, S. 655-671
DOI: 10.1586/14737159.2014.923760
Camp, Kathryn M.: Phenylketonuria Scientific Review Conference - state of the science and future research needs / Kathryn M. Campa, Melissa A. Parisib, Phyllis B. Acostac, Gerard T. Berryd, Deborah A. Bildere, Nena… . - 36 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 112(2014), 2, S. 87-122
DOI: 10.1016/j.ymgme.2014.02.013
Šimaitė, Deimantė: Recessive mutations in PCBD1 cause a new type of early-onset diabetes / Deimante Simaite, Julia Kofent, Maolian Gong, Franz Rüschendorf, Shiqi Jia, Pamela Arn, Kristi Bentl… . - 8 S.
In: Diabetes, ISSN 1939-327X. 63(2014), 10, S. 3557-3564
DOI: 10.2337/db13-1784
Opladen, Thomas: Pitfalls in phenylalanine loading test in the diagnosis of dopa-responsive dystonia / Thomas Opladen, Georg F. Hoffmann, Andrea A. Kühn, Nenad Blau, 12 January 2013. - 3 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 108(2013), 3, Seite 195-197
DOI: 10.1016/j.ymgme.2013.01.001
Medici, Conrado: Unusual case of phenylketonuria with atypical brain magnetic resonance imaging findings / Conrado Medici, MD, Claudio Varacchi, MD, Gabriel Gonzalez, MD, Aida Lemes, MD, Alfredo Cerisola, MD… , 2013. - 4 S.
In: Journal of child neurology, ISSN 1708-8283. 28(2013), 11, Seite 1496-1499
DOI: 10.1177/0883073812457591
Cleary, Maureen: Fluctuations in phenylalanine concentrations in phenylketonuria : a review of possible relationships with outcomes / Maureen Cleary, Friedrich Trefz, Ania C. Muntau, François Feillet, Francjan J. van Spronsen, Alberto… , 9 September 2013. - 6 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 110(2013), 4, Seite 418-423
DOI: 10.1016/j.ymgme.2013.09.001
Keil, Stefanie: Long-term follow-up and outcome of phenylketonuria patients on sapropterin : a retrospective study / Stefanie Keil, MD, Karen Anjema, MD, Francjan J. van Spronsen, MD, PhD, Nilo Lambruschini, MD, Alber… , May 31, 2013. - 8 S.
In: Pediatrics, ISSN 1098-4275. 131(2013), 6 vom: Juni, Seite e1881-e1888
DOI: 10.1542/peds.2012-3291
Heintz, Caroline: Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria / Caroline Heintz, Richard G. H. Cotton, and Nenad Blau, 04 April 2013. - 10 S.
In: Human mutation, ISSN 1098-1004. 34(2013), 7, Seite 927-936
DOI: 10.1002/humu.22320
Blau, Nenad: Sapropterin dihydrochloride for the treatment of hyperphenylalaninemias / Nenad Blau, 27 May 2013. - 12 S.
In: Expert opinion on drug metabolism & toxicology, ISSN 1744-7607. 9(2013), 9, Seite 1207-1218
DOI: 10.1517/17425255.2013.804064
Anjema, Karen: Tetrahydrobiopterin responsiveness in phenylketonuria : prediction with the 48-hour loading test and genotype / Karen Anjema, Margreet van Rijn, Floris C Hofstede, Annet M Bosch, Carla EM Hollak, Estela Rubio-Goz… , 10 July 2013. - 9 S.
In: Orphanet journal of rare diseases, ISSN 1750-1172. 8(2013), Artikelnummer 103, 9 Seiten
DOI: 10.1186/1750-1172-8-103
Blau, Nenad: SSIEM 2011 / Nenad Blau, Brian Fowler, 19 June 2012. - 1 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 35(2012), 4, Seite 569
DOI: 10.1007/s10545-012-9501-2
Opladen, Thomas: An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia / Thomas Opladen, Georg F. Hoffmann, Nenad Blau
In: Journal of inherited metabolic disease, ISSN 1573-2665. 35(2012), 6, S. 963-973
DOI: 10.1007/s10545-012-9506-x
Friedman, Jennifer R.: Sepiapterin reductase deficiency : a treatable mimic of cerebral palsy / Jennifer Friedman, Emmanuel Roze, Jose E. Abdenur, Richard Chang, Serena Gasperini, Veronica Saletti… . - 11 S.
In: Annals of neurology, ISSN 1531-8249. 71(2012), 4, S. 520-530
DOI: 10.1002/ana.22685
Heintz, Caroline: Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry / Caroline Heintz, Heinz Troxler, Aurora Martinez, Beat Thöny, Nenad Blau. - 7 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 105(2012), 4, S. 559-565
DOI: 10.1016/j.ymgme.2011.12.025
Heintz, Caroline: Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable : molecular pathology of mutations in PAH exon 11 / Caroline Heintz, Steven F. Dobrowolski, Henriette Skovgaard Andersen, Mübeccel Demirkol, Nenad Blau,… . - 9 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 106(2012), 4, S. 403-411
DOI: 10.1016/j.ymgme.2012.05.013
Tasic, Velibor: 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, 01 December 2011. - 2 S.
In: Pediatric nephrology, ISSN 1432-198X. 26(2011), 12, Seite 2153-2154
DOI: 10.1007/s00467-011-1786-0
Management of phenylketonuria : current position; dedicated in memory of Dr. Richard Koch (1921 - 2011)$dEuropean Phenylketonuria Group. Guest eds.: Nenad Blau .... -
Amsterdam: Elsevier, 2011. - 99 S. : graph. Darst.
(Molecular genetics and metabolism ; 104,Suppl.)

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11474632X

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