A proposed nosology of inborn errors of metabolism von Ferreira, Carlos R., van Karnebeek, Clara D.M., Vockley, Jerry, Blau, Nenad

Volltext

Phenylketonuria von van Spronsen, Francjan J., Blau, Nenad, Harding, Cary, Burlina, Alberto, Longo, Nicola, Bosch, Annet M.

Volltext

Tetrahydrobiopterin: biochemistry and pathophysiology von Werner, Ernst R, Blau, Nenad, Thöny, Beat

Volltext

Phenylketonuria von Blau, Nenad, Prof, van Spronsen, Francjan J, MD, Levy, Harvey L, Prof

Volltext

Genetics of Phenylketonuria: Then and Now von Blau, Nenad

Volltext

Clinical and biochemical footprints of inherited metabolic diseases. II. Metabolic liver diseases von Ferreira, Carlos R., Cassiman, David, Blau, Nenad

Volltext

Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reduct... von Thöny, Beat, Blau, Nenad

Volltext

Laboratory Guide to the Methods in Biochemical Genetics von Blau, Nenad, Duran, Marinius, Gibson, K. Michael

Volltext

Clinical and biochemical footprints of inherited metabolic diseases. VI. Metabolic dermatoses von Ferreira, Carlos R., Martinelli, Diego, Blau, Nenad

Volltext

Key European guidelines for the diagnosis and management of patients with phenylketonuria von van Spronsen, Francjan J, Prof, van Wegberg, Annemiek MJ, MSc, Ahring, Kirsten, MSc, Bélanger-Quintana, Amaya, MD, Blau, Nenad, Prof, Bosch, Annet M, MD, Burlina, Alberto, MD, Campistol, Jaime, Prof, Feillet, Francois, Prof, Giżewska, Maria, MD, Huijbregts, Stephan C, PhD, Kearney, Shauna, MSc, Leuzzi, Vincenzo, Prof, Maillot, Francois, MD, Muntau, Ania C, Prof, Trefz, Fritz K, Prof, van Rijn, Margreet, PhD, Walter, John H, Prof, MacDonald, Anita, Prof

Volltext

Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies von Blau, Nenad, Hennermann, Julia B., Langenbeck, Ulrich, Lichter-Konecki, Uta

Volltext

Estimating the prevalence of ultra-rare inherited metabolic disorders: Aromatic amino acid decarboxylase (AADC) deficiency von Blau, Nenad

Volltext

DNAJC12 and dopa‐responsive nonprogressive parkinsonism von Straniero, Letizia, Guella, Ilaria, Cilia, Roberto, Parkkinen, Laura, Rimoldi, Valeria, Young, Alexander, Asselta, Rosanna, Soldà, Giulia, Sossi, Vesna, Stoessl, A. Jon, Priori, Alberto, Nishioka, Kenya, Hattori, Nobutaka, Follett, Jordan, Rajput, Alex, Blau, Nenad, Pezzoli, Gianni, Farrer, Matthew J., Goldwurm, Stefano, Rajput, Ali H., Duga, Stefano

Volltext

Tetrahydrobiopterin biosynthesis, regeneration and functions von Thöny, B, Auerbach, G, Blau, N

Volltext

Tetrahydrobiopterin, its Mode of Action on Phenylalanine Hydroxylase, and Importance of Genotypes for Pharmacological Therapy of Phenylketonuria von Heintz, Caroline, Cotton, Richard G.H., Blau, Nenad

Volltext

Assessment of Tetrahydrobiopterin (BH4 ) Responsiveness in Phenylketonuria von Fiege, Betina, MD, Blau, Nenad, PhD

Volltext

CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model von Pan, Yi, Shen, Nan, Jung-Klawitter, Sabine, Betzen, Christian, Hoffmann, Georg F., Hoheisel, Jörg D., Blau, Nenad

Volltext

Recessive mutations in PCBD1 cause a new type of early-onset diabetes von Simaite, Deimante, Kofent, Julia, Gong, Maolian, Rüschendorf, Franz, Jia, Shiqi, Arn, Pamela, Bentler, Kristi, Ellaway, Carolyn, Kühnen, Peter, Hoffmann, Georg F, Blau, Nenad, Spagnoli, Francesca M, Hübner, Norbert, Raile, Klemens

Volltext

Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1 von Jung-Klawitter, Sabine, Ebersold, Juliane, Göhring, Gudrun, Blau, Nenad, Opladen, Thomas

Volltext

Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation von Delmelle, Françoise, Thöny, Beat, Clapuyt, Philippe, Blau, Nenad, Nassogne, Marie-Cécile

Volltext