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14 results on '"Oppermann, Sebastian"'

1. At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Author

Guatibonza Moreno, Pilar, Pardo, Luba M., Pereira, Catarina, Schroeder, Sabine, Vagiri, Deepthi, Almeida, Ligia S., Juaristi, Carlos, Hosny, Heba, Loh, Clarice C. Y., Leubauer, Anika, Torres Morales, Galina, Oppermann, Sebastian, Iurașcu, Marius-Ionuț, Fischer, Steffen, Steinicke, Tara-Marisa, Viceconte, Nikenza, Cozma, Claudia, Kandaswamy, Krishna Kumar, Pinto Basto, Jorge, Böttcher, Tobias, Bauer, Peter, and Bertoli-Avella, Aida

Published
2023
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2. An integrated multiomic approach as an excellent tool for the diagnosis of metabolic diseases: our first 3720 patients

Author

Almeida, Ligia S., Pereira, Catarina, Aanicai, Ruxandra, Schröder, Sabine, Bochinski, Tomasz, Kaune, Anett, Urzi, Alice, Spohr, Tania C. L. S., Viceconte, Nikenza, Oppermann, Sebastian, Alasel, Mohammed, Ebadat, Saeedeh, Iftikhar, Sana, Jasinge, Eresha, Elsayed, Solaf M., Tomoum, Hoda, Marzouk, Iman, Jalan, Anil B., Cerkauskaite, Agne, Cerkauskiene, Rimante, Tkemaladze, Tinatin, Nadeem, Anjum Muhammad, El Din Mahmoud, Iman Gamal, Mossad, Fawzia Amer, Kamel, Mona, Selim, Laila Abdel, Cheema, Huma Arshad, Paknia, Omid, Cozma, Claudia, Juaristi-Manrique, Carlos, Guatibonza-Moreno, Pilar, Böttcher, Tobias, Vogel, Florian, Pinto-Basto, Jorge, Bertoli-Avella, Aida, and Bauer, Peter

Published
2022
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3. At a glance:the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years

Author

Guatibonza Moreno, Pilar, Pardo, Luba M., Pereira, Catarina, Schroeder, Sabine, Vagiri, Deepthi, Almeida, Ligia S., Juaristi, Carlos, Hosny, Heba, Loh, Clarice C.Y., Leubauer, Anika, Torres Morales, Galina, Oppermann, Sebastian, Iurașcu, Marius Ionuț, Fischer, Steffen, Steinicke, Tara Marisa, Viceconte, Nikenza, Cozma, Claudia, Kandaswamy, Krishna Kumar, Pinto Basto, Jorge, Böttcher, Tobias, Bauer, Peter, Bertoli-Avella, Aida, Guatibonza Moreno, Pilar, Pardo, Luba M., Pereira, Catarina, Schroeder, Sabine, Vagiri, Deepthi, Almeida, Ligia S., Juaristi, Carlos, Hosny, Heba, Loh, Clarice C.Y., Leubauer, Anika, Torres Morales, Galina, Oppermann, Sebastian, Iurașcu, Marius Ionuț, Fischer, Steffen, Steinicke, Tara Marisa, Viceconte, Nikenza, Cozma, Claudia, Kandaswamy, Krishna Kumar, Pinto Basto, Jorge, Böttcher, Tobias, Bauer, Peter, and Bertoli-Avella, Aida

Abstract

Niemann-Pick type C1 disease (NPC1 [OMIM 257220]) is a rare and severe autosomal recessive disorder, characterized by a multitude of neurovisceral clinical manifestations and a fatal outcome with no effective treatment to date. Aiming to gain insights into the genetic aspects of the disease, clinical, genetic, and biomarker PPCS data from 602 patients referred from 47 countries and diagnosed with NPC1 in our laboratory were analyzed. Patients’ clinical data were dissected using Human Phenotype Ontology (HPO) terms, and genotype–phenotype analysis was performed. The median age at diagnosis was 10.6 years (range 0–64.5 years), with 287 unique pathogenic/likely pathogenic (P/LP) variants identified, expanding NPC1 allelic heterogeneity. Importantly, 73 P/LP variants were previously unpublished. The most frequent variants detected were: c.3019C > G, p.(P1007A), c.3104C > T, p.(A1035V), and c.2861C > T, p.(S954L). Loss of function (LoF) variants were significantly associated with earlier age at diagnosis, highly increased biomarker levels, and a visceral phenotype (abnormal abdomen and liver morphology). On the other hand, the variants p.(P1007A) and p.(S954L) were significantly associated with later age at diagnosis (p < 0.001) and mildly elevated biomarker levels (p ≤ 0.002), consistent with the juvenile/adult form of NPC1. In addition, p.(I1061T), p.(S954L), and p.(A1035V) were associated with abnormality of eye movements (vertical supranuclear gaze palsy, p ≤ 0.05). We describe the largest and most heterogenous cohort of NPC1 patients published to date. Our results suggest that besides its utility in variant classification, the biomarker PPCS might serve to indicate disease severity/progression. In addition, we establish new genotype–phenotype relationships for “frequent” NPC1 variants.

Published
2023

5. OP033: An integrated multiomic panel as an excellent tool for the genetic diagnosis of metabolic diseases: Our first 3,720 patients

Author

Almeida, Ligia, primary, Pereira, Catarina, additional, Aanicai, Ruxandra, additional, Schröder, Sabine, additional, Bochinski, Tomasz, additional, Kaune, Anett, additional, Gustke, Franziska, additional, Viceconte, Nikenza, additional, Oppermann, Sebastian, additional, Brüsehafer, Katja, additional, Böttcher, Tobias, additional, Vogel, Florian, additional, Basto, Jorge Pinto, additional, Bauer, Peter, additional, and Bertoli-Avella, Aida, additional

Published
2022
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6. Prevalence of Fabry Disease among Patients with Parkinson’s Disease

Author

Lackova, Alexandra, primary, Beetz, Christian, additional, Oppermann, Sebastian, additional, Bauer, Peter, additional, Pavelekova, Petra, additional, Lorincova, Tatiana, additional, Ostrozovicova, Miriam, additional, Kulcsarova, Kristina, additional, Cobejova, Jana, additional, Cobej, Martin, additional, Levicka, Petra, additional, Liesenerova, Simona, additional, Sendekova, Daniela, additional, Sukovska, Viktoria, additional, Gdovinova, Zuzana, additional, Han, Vladimir, additional, Rizig, Mie, additional, Houlden, Henry, additional, and Skorvanek, Matej, additional

Published
2022
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8. Treatment Efficiency in Gaucher Patients Can Reliably Be Monitored by Quantification of Lyso-Gb1 Concentrations in Dried Blood Spots

Author

Cozma, Claudia, primary, Cullufi, Paskal, additional, Kramp, Guido, additional, Hovakimyan, Marina, additional, Velmishi, Virtut, additional, Gjikopulli, Agim, additional, Tomori, Sonila, additional, Fischer, Steffen, additional, Oppermann, Sebastian, additional, Grittner, Ulrike, additional, Bauer, Peter, additional, Beetz, Christian, additional, and Rolfs, Arndt, additional

Published
2020
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14. Long Term Follow-Up of 103 Untreated Adult Patients with Type 1 Gaucher Disease.

Author

Dinur, Tama, Zimran, Ari, Becker-Cohen, Michal, Arkadir, David, Cozma, Claudia, Hovakimyan, Marina, Oppermann, Sebastian, Demuth, Laura, Rolfs, Arndt, and Revel-Vilk, Shoshana

Subjects
PLATELET count, NEWBORN screening, BONE diseases
Abstract

The introduction of disease-specific therapy for patients with type I Gaucher disease (GD1) was a revolution in the management of patients, but not without cost. Thus, the management of mildly affected patients is still debated. We herein report a long-term follow-up (median (range) of 20 (5–58) years) of 103 GD1 patients who have never received enzymatic or substrate reduction therapy. The median (range) platelet count and hemoglobin levels in last assessment of all but six patients who refused therapy (although recommended and approved) were 152 (56–408) × 103/mL and 13.1 (7.6–16.8) g/dL, respectively. Most patients had mild hepatosplenomegaly. Nine patients were splenectomized. No patient developed clinical bone disease. The median (range) lyso-Gb1 levels at last visit was 108.5 (8.1–711) ng/mL; lowest for patients with R496H/other and highest for patients refusing therapy. This rather large cohort with long follow-up confirms that mildly affected patients may remain stable for many years without GD-specific therapy. The challenge for the future, when newborn screening may detect all patients, is to be able to predict which of the early diagnosed patients is at risk for disease-related complications and therefore for early treatment, and who may remain asymptomatic or minimally affected with no need for disease-specific therapy. [ABSTRACT FROM AUTHOR]

Published
2019
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