Clinical and biochemical footprints of inherited metabolic diseases. IV. Metabolic cardiovascular disease.

Bằng Ferreira, Carlos R., Blau, Nenad
Xuất bản năm Mol Genet Metab (2020)

Laboratory guide to the methods in biochemical genetics

Bằng Blau, Nenad., Duran, Marinus., Gibson, Kenneth Michael.
Được phát hành 2008.

A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome

Bằng Ramaekers, Vincent T, Sequeira, Jeffrey M, Blau, Nenad, Quadros, Edward V
Được phát hành 2008

Exploratory study of the effect of one week of orally administered CNSA-001 (sepiapterin) on CNS levels of tetrahydrobiopterin, dihydrobiopterin and monoamine neurotransmitter meta...

Bằng Smith, Neil, Longo, Nicola, Levert, Keith, Hyland, Keith, Blau, Nenad
Xuất bản năm Mol Genet Metab Rep (2019)

Mutations in the Sepiapterin Reductase Gene Cause a Novel Tetrahydrobiopterin-Dependent Monoamine-Neurotransmitter Deficiency without Hyperphenylalaninemia

Bằng Bonafé, Luisa, Thöny, Beat, Penzien, Johann M., Czarnecki, Barbara, Blau, Nenad
Được phát hành 2001

Physician's guide to the treatment and follow-Up of metabolic diseases

Bằng Blau, Nenad., Hoffmann, Georg F., Leonard, J.V., Clarke, Joe T. R.
Được phát hành 2006.

A proposed nosology of inborn errors of metabolism

Bằng Ferreira, Carlos R., van Karnebeek, Clara D.M., Vockley, Jerry, Blau, Nenad
Xuất bản năm Genet Med (2018)

Dopamine-Responsive Growth-Hormone Deficiency and Central Hypothyroidism in Sepiapterin Reductase Deficiency

Bằng Zielonka, Matthias, Makhseed, Nawal, Blau, Nenad, Bettendorf, Markus, Hoffmann, Georg Friedrich, Opladen, Thomas
Xuất bản năm JIMD Rep (2015)

Linking genotypes database with locus-specific database and genotype–phenotype correlation in phenylketonuria

Bằng Wettstein, Sarah, Underhaug, Jarl, Perez, Belen, Marsden, Brian D, Yue, Wyatt W, Martinez, Aurora, Blau, Nenad
Xuất bản năm Eur J Hum Genet (2015)

CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model

Bằng Pan, Yi, Shen, Nan, Jung-Klawitter, Sabine, Betzen, Christian, Hoffmann, Georg F., Hoheisel, Jörg D., Blau, Nenad
Xuất bản năm Sci Rep (2016)

Knowledge base and mini-expert platform for the diagnosis of inborn errors of metabolism

Bằng Lee, Jessica J Y, Wasserman, Wyeth W, Hoffmann, Georg F, van Karnebeek, Clara D M, Blau, Nenad
Xuất bản năm Genet Med (2018)

Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions

Bằng van Karnebeek, Clara D. M., Sayson, Bryan, Lee, Jessica J. Y., Tseng, Laura A., Blau, Nenad, Horvath, Gabriella A., Ferreira, Carlos R.
Xuất bản năm Front Neurol (2018)

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

Bằng Lilleväli, Hardo, Pajusalu, Sander, Wojcik, Monica H., Goodrich, Julia, Collins, Ryan L., Murumets, Ülle, Tammur, Pille, Blau, Nenad, Lilleväli, Kersti, Õunap, Katrin
Xuất bản năm Mol Genet Genomic Med (2020)

Text-based phenotypic profiles incorporating biochemical phenotypes of inborn errors of metabolism improve phenomics-based diagnosis

Bằng Lee, Jessica J. Y., Gottlieb, Michael M., Lever, Jake, Jones, Steven J. M., Blau, Nenad, van Karnebeek, Clara D. M., Wasserman, Wyeth W.
Xuất bản năm J Inherit Metab Dis (2018)

Diagnostic and management practices for phenylketonuria in 19 countries of the South and Eastern European Region: survey results

Bằng Giżewska, Maria, MacDonald, Anita, Bélanger-Quintana, Amaya, Burlina, Alberto, Cleary, Maureen, Coşkun, Turgay, Feillet, François, Muntau, Ania C., Trefz, Friedrich K., van Spronsen, Francjan J., Blau, Nenad
Xuất bản năm Eur J Pediatr (2015)

Dihydrofolate Reductase Deficiency Due to a Homozygous DHFR Mutation Causes Megaloblastic Anemia and Cerebral Folate Deficiency Leading to Severe Neurologic Disease

Bằng Cario, Holger, Smith, Desirée E.C., Blom, Henk, Blau, Nenad, Bode, Harald, Holzmann, Karlheinz, Pannicke, Ulrich, Hopfner, Karl-Peter, Rump, Eva-Maria, Ayric, Zuleya, Kohne, Elisabeth, Debatin, Klaus-Michael, Smulders, Yvo, Schwarz, Klaus
Được phát hành 2011

Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotype

Bằng Anjema, Karen, van Rijn, Margreet, Hofstede, Floris C, Bosch, Annet M, Hollak, Carla EM, Rubio-Gozalbo, Estela, de Vries, Maaike C, Janssen, Mirian CH, Boelen, Carolien CA, Burgerhof, Johannes GM, Blau, Nenad, Heiner-Fokkema, M Rebecca, van Spronsen, Francjan J
Được phát hành 2013

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan

Bằng Carducci, Carla, Amayreh, Wajdi, Ababneh, Haneen, Mahasneh, Amjad, Al Rababah, Buthaina, Al Qaqa, Kefah, Al Aqeel, Momen, Artiola, Cristiana, Tolve, Manuela, D'Amici, Sirio, Shen, Nan, Yu, Yongguo, Hillert, Alicia, Himmelreich, Nastassja, Okun, Jürgen G., Hoffmann, Georg F., Blau, Nenad
Xuất bản năm JIMD Rep (2020)

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

Bằng 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, Mastrangelo, Mario, Pearl, Phillip L., Lee, Wang Tso, Kurian, Manju A., Heales, Simon, Flint, Lisa, Verbeek, Marcel, Willemsen, Michèl, Opladen, Thomas
Xuất bản năm Orphanet J Rare Dis (2017)

Unique Aspects of Sequence Variant Interpretation for Inborn Errors of Metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

Bằng Zastrow, Diane B., Baudet, Heather, Shen, Wei, Thomas, Amanda, Si, Yue, Weaver, Meredith A., Lager, Angela, Liu, Jixia, Mangels, Rachel, Dwight, Selina S., Wright, Matt W., Dobrowolski, Steven F., Eilbeck, Karen, Enns, Gregory M., Feigenbaum, Annette, Lichter-Konecki, Uta, Lyon, Elaine, Pasquali, Marzia, Watson, Michael, Blau, Nenad, Steiner, Robert D., Craigen, William J., Mao, Rong
Xuất bản năm Hum Mutat (2018)