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Corrigendum to "Aromatic amino acid decarboxylase deficiency: Molecular and metabolic basis and therapeutic outlook" [Mol Genet Metab. 2019 May;127(1):12-22].
Himmelreich N, Montioli R, Bertoldi M, Carducci C, Leuzzi V, Gemperle C, Berner T, Hyland K, Thöny B, Hoffmann GF, Voltattorni CB, Blau N. Himmelreich N, et al. Mol Genet Metab. 2021 Sep-Oct;134(1-2):216. doi: 10.1016/j.ymgme.2021.06.010. Epub 2021 Jul 7. Mol Genet Metab. 2021. PMID: 34244047 No abstract available.
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis.
Cannet C, Bayat A, Frauendienst-Egger G, Freisinger P, Spraul M, Himmelreich N, Kockaya M, Ahring K, Godejohann M, MacDonald A, Trefz F. Cannet C, et al. Among authors: himmelreich n. Molecules. 2023 Jun 22;28(13):4916. doi: 10.3390/molecules28134916. Molecules. 2023. PMID: 37446577 Free PMC article.
Heterogeneous clinical spectrum of DNAJC12-deficient hyperphenylalaninemia: from attention deficit to severe dystonia and intellectual disability.
van Spronsen FJ, Himmelreich N, Rüfenacht V, Shen N, Vliet DV, Al-Owain M, Ramzan K, Alkhalifi SM, Lunsing RJ, Heiner-Fokkema RM, Rassi A, Gemperle-Britschgi C, Hoffmann GF, Blau N, Thöny B. van Spronsen FJ, et al. Among authors: himmelreich n. J Med Genet. 2017 Aug 9:jmedgenet-2017-104875. doi: 10.1136/jmedgenet-2017-104875. Online ahead of print. J Med Genet. 2017. PMID: 28794131
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG.
Dimitrov B, Himmelreich N, Hipgrave Ederveen AL, Lüchtenborg C, Okun JG, Breuer M, Hutter AM, Carl M, Guglielmi L, Hellwig A, Thiemann KC, Jost M, Peters V, Staufner C, Hoffmann GF, Hackenberg A, Paramasivam N, Wiemann S, Eils R, Schlesner M, Strahl S, Brügger B, Wuhrer M, Christoph Korenke G, Thiel C. Dimitrov B, et al. Among authors: himmelreich n. Mol Genet Metab. 2018 Mar;123(3):364-374. doi: 10.1016/j.ymgme.2018.01.008. Epub 2018 Jan 31. Mol Genet Metab. 2018. PMID: 29396028
Phenylalanine hydroxylase variants interact with the co-chaperone DNAJC12.
Jung-Kc K, Himmelreich N, Prestegård KS, Shi TS, Scherer T, Ying M, Jorge-Finnigan A, Thöny B, Blau N, Martinez A. Jung-Kc K, et al. Among authors: himmelreich n. Hum Mutat. 2019 Apr;40(4):483-494. doi: 10.1002/humu.23712. Epub 2019 Feb 6. Hum Mutat. 2019. PMID: 30667134
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan.
Carducci C, Amayreh W, Ababneh H, Mahasneh A, Al Rababah B, Al Qaqa K, Al Aqeel M, Artiola C, Tolve M, D'Amici S, Shen N, Yu Y, Hillert A, Himmelreich N, Okun JG, Hoffmann GF, Blau N. Carducci C, et al. Among authors: himmelreich n. JIMD Rep. 2020 May 19;55(1):59-67. doi: 10.1002/jmd2.12130. eCollection 2020 Sep. JIMD Rep. 2020. PMID: 32905092 Free PMC article.
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