Cozma C - Search Results

1

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.

Cheema H, Bertoli-Avella AM, Skrahina V, Anjum MN, Waheed N, Saeed A, Beetz C, Perez-Lopez J, Rocha ME, Alawbathani S, Pereira C, Hovakimyan M, Patric IRP, Paknia O, Ameziane N, Cozma C, Bauer P, Rolfs A. Cheema H, et al. Among authors: cozma c. NPJ Genom Med. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z. eCollection 2020. NPJ Genom Med. 2020. PMID: 33083013 Free PMC article.

2

Diagnosis of Morquio Syndrome in Dried Blood Spots Based on a New MRM-MS Assay.

Cozma C, Eichler S, Wittmann G, Flores Bonet A, Kramp GJ, Giese AK, Rolfs A. Cozma C, et al. PLoS One. 2015 Jul 6;10(7):e0131228. doi: 10.1371/journal.pone.0131228. eCollection 2015. PLoS One. 2015. PMID: 26147980 Free PMC article.

3

Functional and Clinical Consequences of Novel α-Galactosidase A Mutations in Fabry Disease.

Lukas J, Scalia S, Eichler S, Pockrandt AM, Dehn N, Cozma C, Giese AK, Rolfs A. Lukas J, et al. Among authors: cozma c. Hum Mutat. 2016 Jan;37(1):43-51. doi: 10.1002/humu.22910. Epub 2015 Oct 27. Hum Mutat. 2016. PMID: 26415523

4

C26-Ceramide as highly sensitive biomarker for the diagnosis of Farber Disease.

Cozma C, Iurașcu MI, Eichler S, Hovakimyan M, Brandau O, Zielke S, Böttcher T, Giese AK, Lukas J, Rolfs A. Cozma C, et al. Sci Rep. 2017 Jul 21;7(1):6149. doi: 10.1038/s41598-017-06604-2. Sci Rep. 2017. PMID: 28733637 Free PMC article.

5

Glucosylsphingosine is a reliable response biomarker in Gaucher disease.

Arkadir D, Dinur T, Revel-Vilk S, Becker Cohen M, Cozma C, Hovakimyan M, Eichler S, Rolfs A, Zimran A. Arkadir D, et al. Among authors: cozma c. Am J Hematol. 2018 Jun;93(6):E140-E142. doi: 10.1002/ajh.25074. Epub 2018 Mar 15. Am J Hematol. 2018. PMID: 29473199 Free article. No abstract available.

6

Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA-related Parkinson's disease.

Arkadir D, Dinur T, Becker Cohen M, Revel-Vilk S, Tiomkin M, Brüggemann N, Cozma C, Rolfs A, Zimran A. Arkadir D, et al. Among authors: cozma c. Eur J Neurol. 2019 Jul;26(7):1013-1018. doi: 10.1111/ene.13927. Epub 2019 Mar 1. Eur J Neurol. 2019. PMID: 30714262

7

Glucosylsphingosine (lyso-Gb1) as a Biomarker for Monitoring Treated and Untreated Children with Gaucher Disease.

Hurvitz N, Dinur T, Becker-Cohen M, Cozma C, Hovakimyan M, Oppermann S, Demuth L, Rolfs A, Abramov A, Zimran A, Revel-Vilk S. Hurvitz N, et al. Among authors: cozma c. Int J Mol Sci. 2019 Jun 21;20(12):3033. doi: 10.3390/ijms20123033. Int J Mol Sci. 2019. PMID: 31234327 Free PMC article.

8

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.

Cozma C, Hovakimyan M, Iurașcu MI, Makhseed N, Selim LA, Alhashem AM, Ben-Omran T, Mahmoud IG, Al Menabawy NM, Al-Mureikhi M, Martin M, Demuth L, Yüksel Z, Beetz C, Bauer P, Rolfs A. Cozma C, et al. Orphanet J Rare Dis. 2019 Aug 27;14(1):209. doi: 10.1186/s13023-019-1183-5. Orphanet J Rare Dis. 2019. PMID: 31455396 Free PMC article.

9

Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease.

Dinur T, Zimran A, Becker-Cohen M, Arkadir D, Cozma C, Hovakimyan M, Oppermann S, Demuth L, Rolfs A, Revel-Vilk S. Dinur T, et al. Among authors: cozma c. J Clin Med. 2019 Oct 11;8(10):1662. doi: 10.3390/jcm8101662. J Clin Med. 2019. PMID: 31614613 Free PMC article.

10

Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test.

Feng X, Cozma C, Pantoom S, Hund C, Iwanov K, Petters J, Völkner C, Bauer C, Vogel F, Bauer P, Weiss FU, Lerch MM, Knospe AM, Hermann A, Frech MJ, Luo J, Rolfs A, Lukas J. Feng X, et al. Among authors: cozma c. Int J Mol Sci. 2019 Oct 19;20(20):5185. doi: 10.3390/ijms20205185. Int J Mol Sci. 2019. PMID: 31635081 Free PMC article.

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