Beck-Wödl S - Search Results

1

Citrin deficiency mimicking mitochondrial depletion syndrome.

Grünert SC, Schumann A, Freisinger P, Rosenbaum-Fabian S, Schmidts M, Mueller AJ, Beck-Wödl S, Haack TB, Schneider H, Fuchs H, Teufel U, Gramer G, Hannibal L, Spiekerkoetter U. Grünert SC, et al. BMC Pediatr. 2020 Nov 11;20(1):518. doi: 10.1186/s12887-020-02409-x. BMC Pediatr. 2020. PMID: 33176737 Free PMC article.

2

X-linked Charcot-Marie-Tooth disease, Arts syndrome, and prelingual non-syndromic deafness form a disease continuum: evidence from a family with a novel PRPS1 mutation.

Synofzik M, Müller vom Hagen J, Haack TB, Wilhelm C, Lindig T, Beck-Wödl S, Nabuurs SB, van Kuilenburg AB, de Brouwer AP, Schöls L. Synofzik M, et al. Orphanet J Rare Dis. 2014 Feb 14;9:24. doi: 10.1186/1750-1172-9-24. Orphanet J Rare Dis. 2014. PMID: 24528855 Free PMC article.

3

De novo FBXO11 mutations are associated with intellectual disability and behavioural anomalies.

Fritzen D, Kuechler A, Grimmel M, Becker J, Peters S, Sturm M, Hundertmark H, Schmidt A, Kreiß M, Strom TM, Wieczorek D, Haack TB, Beck-Wödl S, Cremer K, Engels H. Fritzen D, et al. Hum Genet. 2018 May;137(5):401-411. doi: 10.1007/s00439-018-1892-1. Epub 2018 May 23. Hum Genet. 2018. PMID: 29796876

4

Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?

Laugwitz L, Buchert R, Groeschel S, Riess A, Grimmel M, Beck-Wödl S, Sturm M, Gohla G, Döbler-Neumann M, Krägeloh-Mann I, Haack TB. Laugwitz L, et al. Eur J Med Genet. 2020 Jul;63(7):103938. doi: 10.1016/j.ejmg.2020.103938. Epub 2020 Apr 28. Eur J Med Genet. 2020. PMID: 32360255

5

Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.

Beck-Wödl S, Kehrer C, Harzer K, Haack TB, Bürger F, Haas D, Rieß A, Groeschel S, Krägeloh-Mann I, Böhringer J. Beck-Wödl S, et al. JIMD Rep. 2020 Dec 8;58(1):80-88. doi: 10.1002/jmd2.12189. eCollection 2021 Mar. JIMD Rep. 2020. PMID: 33728250 Free PMC article.

6

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families.

Grünert SC, Hannibal L, Schumann A, Rosenbaum-Fabian S, Beck-Wödl S, Haack TB, Grimmel M, Bertrand M, Spiekerkoetter U. Grünert SC, et al. Diagnostics (Basel). 2021 Mar 12;11(3):500. doi: 10.3390/diagnostics11030500. Diagnostics (Basel). 2021. PMID: 33809020 Free PMC article.

7

Angiokeratoma corporis diffusum with severe acroparesthesia, an endothelial abnormality, and inconspicuous genetic findings.

Harzer K, Beck-Wödl S, Haack TB. Harzer K, et al. J Cutan Pathol. 2022 Mar;49(3):293-298. doi: 10.1111/cup.14154. Epub 2021 Nov 7. J Cutan Pathol. 2022. PMID: 34672003

8

A single center experience of prenatal parent-fetus trio exome sequencing for pregnancies with congenital anomalies.

Dufke A, Hoopmann M, Waldmüller S, Prodan NC, Beck-Wödl S, Grasshoff U, Heinrich T, Riess A, Kehrer M, Falb RJ, Liebmann A, Roggia C, Stampfer M, Schadeck M, Müller AJ, Grimmel M, Stöbe P, Gauck D, Buchert-Lo R, Baumann S, Schäferhoff K, Bertrand M, Menden B, Sturm M, Schütz L, Riess O, Ossowski S, Haack TB, Kagan KO. Dufke A, et al. Among authors: beck wodl s. Prenat Diagn. 2022 Jun;42(7):901-910. doi: 10.1002/pd.6170. Epub 2022 May 20. Prenat Diagn. 2022. PMID: 35574990

9

Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges.

Santhanakumaran V, Groeschel S, Harzer K, Kehrer C, Elgün S, Beck-Wödl S, Hengel H, Schöls L, Haack TB, Krägeloh-Mann I, Laugwitz L. Santhanakumaran V, et al. Among authors: beck wodl s. Mol Genet Metab. 2022 Nov;137(3):273-282. doi: 10.1016/j.ymgme.2022.09.009. Epub 2022 Sep 30. Mol Genet Metab. 2022. PMID: 36240581 Free article.

10

Corrigendum to "Predicting clinical phenotypes of metachromatic leukodystrophy based on the arylsulfatase A activity and the ARSA genotype? - Chances and challenges" Mol Genet Metab/Vol 137/Issue 3/2022/ 273-282.

Santhanakumaran V, Groeschel S, Harzer K, Kehrer C, Elgün S, Beck-Wödl S, Hengel H, Schöls L, Haack TB, Krägeloh-Mann I, Laugwitz L. Santhanakumaran V, et al. Among authors: beck wodl s. Mol Genet Metab. 2023 Mar;138(3):107372. doi: 10.1016/j.ymgme.2023.107372. Epub 2023 Feb 3. Mol Genet Metab. 2023. PMID: 36739646 No abstract available.

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