Search Results - Blau, Nenad

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  1. 1
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    Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: a PAH landscape by Himmelreich, Nastassja (Author) , Ramón-Maiques, Santiago (Author) , Navarrete, Rosa (Author) , Castejon-Fernandez, Natalia (Author) , Garbade, Sven (Author) , Martinez, Aurora (Author) , Desviat, Lourdes R. (Author) , Pérez, Belén (Author) , Blau, Nenad (Author) ,


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  2. 2
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    Does hyperphenylalaninemia induce brain glucose hypometabolism?: Cerebral spinal fluid findings in treated adult phenylketonuric patients by Trefz, Friedrich K. (Author) , Frauendienst-Egger, Georg (Author) , Dienel, Gerald (Author) , Cannet, Claire (Author) , Schmidt-Mader, Brigitte (Author) , Haas, Dorothea (Author) , Blau, Nenad (Author) , Himmelreich, Nastassja (Author) , Spraul, Manfred (Author) , Freisinger, Peter (Author) , Dobrowolski, Steven (Author) , Berg, Daniela (Author) , Pilotto, Andrea (Author) ,


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  3. 3
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    Clinical and biochemical footprints of congenital disorders of glycosylation: proposed nosology by Ng, Bobby (Author) , Freeze, Hudson H. (Author) , Himmelreich, Nastassja (Author) , Blau, Nenad (Author) , Ferreira, Carlos R. (Author) ,


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  4. 4
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    Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Himmelreich, Nastassja (Author) , Bertoldi, Mariarita (Author) , Alfadhel, Majid (Author) , Alghamdi, Malak Ali (Author) , Anikster, Yair (Author) , Bao, Xinhua (Author) , Bashiri, Fahad A. (Author) , Zeev, Bruria Ben (Author) , Bisello, Giovanni (Author) , Ceylan, Ahmet Cevdet (Author) , Chien, Yin-Hsiu (Author) , Choy, Yew Sing (Author) , Elsea, Sarah H. (Author) , Flint, Lisa (Author) , García-Cazorla, Àngels (Author) , Gijavanekar, Charul (Author) , Gümüş, Emel Yılmaz (Author) , Hamad, Muddathir H. (Author) , Hişmi, Burcu (Author) , Honzik, Tomas (Author) , Kuseyri Hübschmann, Oya (Author) , Hwu, Wuh-Liang (Author) , Ibáñez-Micó, Salvador (Author) , Jeltsch, Kathrin (Author) , Juliá-Palacios, Natalia (Author) , Kasapkara, Çiğdem Seher (Author) , Kurian, Manju A. (Author) , Kusmierska, Katarzyna (Author) , Liu, Ning (Author) , Ngu, Lock Hock (Author) , Odom, John D. (Author) , Ong, Winnie Peitee (Author) , Opladen, Thomas (Author) , Oppeboen, Mari (Author) , Pearl, Phillip L. (Author) , Pérez, Belén (Author) , Pons, Roser (Author) , Rygiel, Agnieszka Magdalena (Author) , Shien, Tan Ee (Author) , Spaull, Robert (Author) , Sykut-Cegielska, Jolanta (Author) , Tabarki, Brahim (Author) , Tangeraas, Trine (Author) , Thöny, Beat (Author) , Wassenberg, Tessa (Author) , Wen, Yongxin (Author) , Yakob, Yusnita (Author) , Yin, Jasmine Goh Chew (Author) , Zeman, Jiri (Author) , Blau, Nenad (Author) ,


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  5. 5
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    Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes by Himmelreich, Nastassja (Author) , Bertoldi, Mariarita (Author) , Alfadhel, Majid (Author) , Alghamdi, Malak Ali (Author) , Anikster, Yair (Author) , Bao, Xinhua (Author) , Bashiri, Fahad A. (Author) , Zeev, Bruria Ben (Author) , Bisello, Giovanni (Author) , Ceylan, Ahmet Cevdet (Author) , Chien, Yin-Hsiu (Author) , Choy, Yew Sing (Author) , Elsea, Sarah H. (Author) , Flint, Lisa (Author) , García-Cazorla, Àngels (Author) , Gijavanekar, Charul (Author) , Gümüş, Emel Yılmaz (Author) , Hamad, Muddathir H. (Author) , Hişmi, Burcu (Author) , Honzik, Tomas (Author) , Kuseyri Hübschmann, Oya (Author) , Hwu, Wuh-Liang (Author) , Ibáñez-Micó, Salvador (Author) , Jeltsch, Kathrin (Author) , Juliá-Palacios, Natalia (Author) , Kasapkara, Çiğdem Seher (Author) , Kurian, Manju A. (Author) , Kusmierska, Katarzyna (Author) , Liu, Ning (Author) , Ngu, Lock Hock (Author) , Odom, John D. (Author) , Ong, Winnie Peitee (Author) , Opladen, Thomas (Author) , Oppeboen, Mari (Author) , Pearl, Phillip L. (Author) , Pérez, Belén (Author) , Pons, Roser (Author) , Rygiel, Agnieszka Magdalena (Author) , Shien, Tan Ee (Author) , Spaull, Robert (Author) , Sykut-Cegielska, Jolanta (Author) , Tabarki, Brahim (Author) , Tangeraas, Trine (Author) , Thöny, Beat (Author) , Wassenberg, Tessa (Author) , Wen, Yongxin (Author) , Yakob, Yusnita (Author) , Yin, Jasmine Goh Chew (Author) , Zeman, Jiri (Author) , Blau, Nenad (Author) ,


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  6. 6
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    Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations by Himmelreich, Nastassja (Author) , Montioli, Riccardo (Author) , Garbade, Sven (Author) , Kopesky, Jeffrey (Author) , Elsea, Sarah H. (Author) , Carducci, Carla (Author) , Voltattorni, Carla B. (Author) , Blau, Nenad (Author) ,


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  7. 7
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    Detection of 3-O-methyldopa in dried blood spots for neonatal diagnosis of aromatic L-amino-acid decarboxylase deficiency: the northeastern Italian experience by Burlina, Alberto (Author) , Giuliani, Antonella (Author) , Polo, Giulia (Author) , Gueraldi, Daniela (Author) , Gragnaniello, Vincenza (Author) , Cazzorla, Chiara (Author) , Opladen, Thomas (Author) , Hoffmann, Georg F. (Author) , Blau, Nenad (Author) , Burlina, Alessandro P. (Author) ,


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  8. 8
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    Differences of phenylalanine concentrations in dried blood spots and in plasma: erythrocytes as a neglected component for this observation by Haas, Dorothea (Author) , Hauke, Jana (Author) , Schwarz, Kathrin V. (Author) , Consalvi, Lucia (Author) , Trefz, Friedrich K. (Author) , Blau, Nenad (Author) , Hoffmann, Georg F. (Author) , Burgard, Peter (Author) , Garbade, Sven (Author) , Okun, Jürgen G. (Author) ,


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  9. 9
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    Clinical and biochemical footprints of inherited metabolic diseases: III. psychiatric presentations by Horvath, Gabriela Ana (Author) , Stowe, Robert M. (Author) , Ferreira, Carlos R. (Author) , Blau, Nenad (Author) ,


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  10. 10
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    Targeted cerebrospinal fluid analysis for inborn errors of metabolism on an LC-MS/MS analysis platform by Klinke, Glynis (Author) , Richter, Sylvia (Author) , Monostori, Péter (Author) , Schmidt‐Mader, Brigitte (Author) , García‐Cazorla, Angels (Author) , Artuch, Rafael (Author) , Christ, Stine (Author) , Opladen, Thomas (Author) , Hoffmann, Georg F. (Author) , Blau, Nenad (Author) , Okun, Jürgen G. (Author) ,


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  11. 11
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    The genetic landscape and epidemiology of phenylketonuria by Hillert, Alicia (Author) , Thöny, Beat (Author) , Trefz, Friedrich K. (Author) , Hoffmann, Georg F. (Author) , Garbade, Sven (Author) , Blau, Nenad (Author) ,


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  12. 12
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    Role of protein structure in variant annotation: structural insight of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency by Muniz, Joao R. C. (Author) , Himmelreich, Nastassja (Author) , Blau, Nenad (Author) ,


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  13. 13
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    Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12 by Jung, Kunwar (Author) , Himmelreich, Nastassja (Author) , Blau, Nenad (Author) ,


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  14. 14
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    Allelic phenotype values: a model for genotype-based phenotype prediction in phenylketonuria by Garbade, Sven (Author) , Himmelreich, Nastassja (Author) , Haas, Dorothea (Author) , Trefz, Friedrich K. (Author) , Hoffmann, Georg F. (Author) , Burgard, Peter (Author) , Blau, Nenad (Author) ,


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  15. 15
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    A proposed nosology of inborn errors of metabolism by Ferreira Lopez, Carlos R (Author) , Blau, Nenad (Author) ,


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  16. 16
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    6-Pyruvoyltetrahydropterin synthase deficiency: review and report of 28 Arab subjects by Almannai, Mohammed (Author) , Blau, Nenad (Author) ,


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  17. 17
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    Neurotransmitter trafficking defect in a patient with clathrin (CLTC) variation presenting with intellectual disability and early-onset parkinsonism by Manti, Filippo (Author) , Nardecchia, Francesca (Author) , Blau, Nenad (Author) ,


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  18. 18
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    Cerebrospinal fluid biogenic amines depletion and brain atrophy in adult patients with phenylketonuria by Pilotto, Andrea (Author) , Blau, Nenad (Author) , Leks, Edytha (Author) , Schulte, Claudia (Author) , Deuschl, Christian (Author) , Zipser, Carl (Author) , Piel, David (Author) , Freisinger, Peter (Author) , Gramer, Gwendolyn (Author) , Kölker, Stefan (Author) , Haas, Dorothea (Author) , Burgard, Peter (Author) , Nawroth, Peter (Author) , Hoffmann, Georg F. (Author) , Scheffler, Klaus (Author) , Berg, Daniela (Author) , Trefz, Friedrich K. (Author) ,


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  19. 19
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    Clinical and biochemical footprints of inherited metabolic diseases: II. Metabolic liver diseases by Ferreira Lopez, Carlos R (Author) , Cassiman, David (Author) , Blau, Nenad (Author) ,


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  20. 20
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    Phase I clinical evaluation of CNSA-001 (sepiapterin), a novel pharmacological treatment for phenylketonuria and tetrahydrobiopterin deficiencies, in healthy volunteers by Smith, Neil (Author) , Blau, Nenad (Author) ,


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