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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
Early prediction of phenotypic severity in Citrullinemia Type 1.
Zielonka M, Kölker S, Gleich F, Stützenberger N, Nagamani SCS, Gropman AL, Hoffmann GF, Garbade SF, Posset R; Urea Cycle Disorders Consortium (UCDC) and the European Registry and Network for Intoxication type Metabolic Diseases (E-IMD) Consortia Study Group. Zielonka M, et al. Ann Clin Transl Neurol. 2019 Sep;6(9):1858-1871. doi: 10.1002/acn3.50886. Epub 2019 Aug 30. Ann Clin Transl Neurol. 2019. PMID: 31469252 Free PMC article.
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.
59 results