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Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.
Mütze U, Bürger F, Hoffmann J, Tegetmeyer H, Heichel J, Nickel P, Lemke JR, Syrbe S, Beblo S. Mütze U, et al. Among authors: beblo s. Mol Genet Metab Rep. 2016 Dec 1;10:1-4. doi: 10.1016/j.ymgmr.2016.11.004. eCollection 2017 Mar. Mol Genet Metab Rep. 2016. PMID: 27942463 Free PMC article.
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study.
Märtner EMC, Thimm E, Guder P, Schiergens KA, Rutsch F, Roloff S, Marquardt I, Das AM, Freisinger P, Grünert SC, Krämer J, Baumgartner MR, Beblo S, Haase C, Dieckmann A, Lindner M, Näke A, Hoffmann GF, Mühlhausen C, Walter M, Garbade SF, Maier EM, Kölker S, Boy N. Märtner EMC, et al. Among authors: beblo s. Sci Rep. 2021 Sep 29;11(1):19300. doi: 10.1038/s41598-021-98809-9. Sci Rep. 2021. PMID: 34588557 Free PMC article.
Growth and Final Height Among Children With Phenylketonuria.
Thiele AG, Gausche R, Lindenberg C, Beger C, Arelin M, Rohde C, Mütze U, Weigel JF, Mohnike K, Baerwald C, Scholz M, Kiess W, Pfäffle R, Beblo S. Thiele AG, et al. Among authors: beblo s. Pediatrics. 2017 Nov;140(5):e20170015. doi: 10.1542/peds.2017-0015. Pediatrics. 2017. PMID: 29089407
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries.
Evers RAF, van Wegberg AMJ, Ahring K, Beblo S, Bélanger-Quintana A, Bosch AM, Burlina A, Campistol J, Coskun T, Feillet F, Giżewska M, Huijbregts SCJ, Kearney S, Langeveld M, Leuzzi V, Maillot F, Muntau AC, Rocha JC, Romani C, Trefz FK, MacDonald A, van Spronsen FJ. Evers RAF, et al. Among authors: beblo s. Mol Genet Metab. 2021 Apr;132(4):215-219. doi: 10.1016/j.ymgme.2021.01.013. Epub 2021 Feb 4. Mol Genet Metab. 2021. PMID: 33610470 Free article.
Preventing maternal phenylketonuria (PKU) syndrome: important factors to achieve good metabolic control throughout pregnancy.
Rohde C, Thiele AG, Baerwald C, Ascherl RG, Lier D, Och U, Heller C, Jung A, Schönherr K, Joerg-Streller M, Luttat S, Matzgen S, Winkler T, Rosenbaum-Fabian S, Joos O, Beblo S. Rohde C, et al. Among authors: beblo s. Orphanet J Rare Dis. 2021 Nov 18;16(1):477. doi: 10.1186/s13023-021-02108-5. Orphanet J Rare Dis. 2021. PMID: 34794480 Free PMC article.
66 results