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Page 1
Brain morphometry in Pontocerebellar Hypoplasia type 2.
Ekert K, Groeschel S, Sánchez-Albisua I, Frölich S, Dieckmann A, Engel C, Krägeloh-Mann I. Ekert K, et al. Among authors: dieckmann a. Orphanet J Rare Dis. 2016 Jul 19;11(1):100. doi: 10.1186/s13023-016-0481-4. Orphanet J Rare Dis. 2016. PMID: 27430971 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: dieckmann a. Sci Rep. 2021 Sep 29;11(1):19300. doi: 10.1038/s41598-021-98809-9. Sci Rep. 2021. PMID: 34588557 Free PMC article.
Newborn screening: A disease-changing intervention for glutaric aciduria type 1.
Boy N, Mengler K, Thimm E, Schiergens KA, Marquardt T, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer J, Hoffmann GF, Mühlhausen C, Maier EM, Ensenauer R, Garbade SF, Kölker S. Boy N, et al. Among authors: dieckmann a. Ann Neurol. 2018 May;83(5):970-979. doi: 10.1002/ana.25233. Epub 2018 Apr 30. Ann Neurol. 2018. PMID: 29665094
Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.
Mütze U, Henze L, Gleich F, Lindner M, Grünert SC, Spiekerkoetter U, Santer R, Blessing H, Thimm E, Ensenauer R, Weigel J, Beblo S, Arélin M, Hennermann JB, Marquardt T, Marquardt I, Freisinger P, Krämer J, Dieckmann A, Weinhold N, Keller M, Walter M, Schiergens KA, Maier EM, Hoffmann GF, Garbade SF, Kölker S. Mütze U, et al. Among authors: dieckmann a. J Inherit Metab Dis. 2021 Jul;44(4):857-870. doi: 10.1002/jimd.12364. Epub 2021 Feb 7. J Inherit Metab Dis. 2021. PMID: 33496032
Publisher Correction: 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: dieckmann a. Sci Rep. 2021 Oct 12;11(1):20618. doi: 10.1038/s41598-021-00137-5. Sci Rep. 2021. PMID: 34642359 Free PMC article. No abstract available.
The Clinical and Molecular Spectrum of GM1 Gangliosidosis.
Arash-Kaps L, Komlosi K, Seegräber M, Diederich S, Paschke E, Amraoui Y, Beblo S, Dieckmann A, Smitka M, Hennermann JB. Arash-Kaps L, et al. Among authors: dieckmann a. J Pediatr. 2019 Dec;215:152-157.e3. doi: 10.1016/j.jpeds.2019.08.016. J Pediatr. 2019. PMID: 31761138
Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study.
Märtner EMC, Maier EM, Mengler K, Thimm E, Schiergens KA, Marquardt T, Santer R, Weinhold N, Marquardt I, Das AM, Freisinger P, Grünert SC, Vossbeck J, Steinfeld R, Baumgartner MR, Beblo S, Dieckmann A, Näke A, Lindner M, Heringer-Seifert J, Lenz D, Hoffmann GF, Mühlhausen C, Ensenauer R, Garbade SF, Kölker S, Boy N. Märtner EMC, et al. Among authors: dieckmann a. J Inherit Metab Dis. 2021 May;44(3):629-638. doi: 10.1002/jimd.12335. Epub 2020 Dec 15. J Inherit Metab Dis. 2021. PMID: 33274439 Free article.
Strain Ultrasound Elastography of Muscles in Healthy Children and Healthy Adults.
Wenz H, Dieckmann A, Lehmann T, Brandl U, Mentzel HJ. Wenz H, et al. Among authors: dieckmann a. Rofo. 2019 Dec;191(12):1091-1098. doi: 10.1055/a-0889-8605. Epub 2019 Apr 29. Rofo. 2019. PMID: 31035300 Free article. English, German.
PURPOSE: Standardized application and evaluation of the strain ultrasound elastography method (USE) by means of a strain color scale (SCS) and a strain ratio analysis. To determine differences in muscle elasticity in healthy children and adults. ...Strain color scal …
PURPOSE: Standardized application and evaluation of the strain ultrasound elastography method (USE) by means of a strain color scale …
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.
Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS. Johannesen KM, et al. Among authors: dieckmann a. Neurol Genet. 2019 Dec 10;5(6):e373. doi: 10.1212/NXG.0000000000000373. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042906 Free PMC article.
60 results