Blau, Nenad Prof. Dr.Universität HeidelbergHeidelberg
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Co-Autoren (Uni Heidelberg)
- Haas, Dorothea (2)
- Burgard, Peter (2)
- Assmann, Birgit (2)
- Thiel, Christian (2)
- Garbade, Sven (2)
- Gramer, Gwendolyn (2)
- Jeltsch, Kathrin (2)
- Betzen, Christian (1)
- Kölker, Stefan (1)
- Lozanovski, Vladimir J. (1)
- Zielonka, Matthias (1)
- Piel, David (1)
- Bettendorf, Markus (1)
- Klinke, Glynis (1)
- Monostori, Péter (1)
- Richter, Sylvia (1)
- Peters, Verena (1)
- Hillert, Alicia (1)
- Lutz, Thomas (1)
- Christ, Stine (1)
Co-Autoren (extern)
- Bélanger-Quintana, Amaya (3)
- Gibson, K. Michael (2)
- Wassenberg, Tessa (2)
- Nardecchia, Francesca (2)
- Smith, Neil (2)
- Hyland, Keith (2)
- Lee, Jessica J.Y. (2)
- Leuzzi, Vincenzo (2)
- Ferreira, Carlos R. (2)
- Rassi, Anahita (2)
- MacDonald, Anita (2)
- Feillet, François (2)
- Bosch, Annet M. (2)
- Duran, Marinus (2)
- Freisinger, Peter (1)
- Schulte, Claudia (1)
- Šimaitė, Deimantė (1)
- Camp, Kathryn M. (1)
- MacDonald, Anita (1)
- Tasic, Velibor (1)
- Wettstein, Sarah Beatrice (1)
- Koch, Richard (1921-2011) (1)
- Dionisi Vici, Carlo (1)
- Longo, Nicola (1)
- Trunzo, Roberta (1)
- Wegberg, Anna van (1)
- Pan, Yi (1)
- Delmelle, Françoise (1)
- Straniero, Letizia (1)
- Friedman, Jennifer R. (1)
- Karin, Ivan (1)
- Giovannini, Marcello (1)
- Fowler, Brian (1)
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Neueste Publikationen in heiBIB 
(ingesamt sind 69 Publikationen erfasst)
- 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
