Autor: "Minder AE" - OpacWWW

Skocz do pozycji: 1.

Tytuł:: First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
Autorzy:: Belosevic A; Institute of Laboratory Medicine, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.
Minder AE; Division of Endocrinology, Diabetology, Porphyria and Clinical Nutrition, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.; Swiss Reference Centre for Porphyrias, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.
Gueuning M; Department of Research and Development, Blood Transfusion Service Zurich, Swiss Red Cross, 8952 Schlieren, Switzerland.
van Breemen F; Institute of Laboratory Medicine, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.; Swiss Reference Centre for Porphyrias, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.
Thun GA; Department of Research and Development, Blood Transfusion Service Zurich, Swiss Red Cross, 8952 Schlieren, Switzerland.
Mattle-Greminger MP; Department of Research and Development, Blood Transfusion Service Zurich, Swiss Red Cross, 8952 Schlieren, Switzerland.
Meyer S; Department of Molecular Diagnostics and Cytometry, Blood Transfusion Service Zurich, Swiss Red Cross, 8952 Schlieren, Switzerland.
Baumer A; Institute of Medical Genetics, University of Zürich, 8952 Schlieren, Switzerland.
Minder EI; Division of Endocrinology, Diabetology, Porphyria and Clinical Nutrition, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.; Swiss Reference Centre for Porphyrias, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.
Schneider-Yin X; Institute of Laboratory Medicine, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.; Swiss Reference Centre for Porphyrias, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.
Barman-Aksözen J; Institute of Laboratory Medicine, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.; Swiss Reference Centre for Porphyrias, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.; Pokaż więcej
Źródło:: Life (Basel, Switzerland) [Life (Basel)] 2023 Sep 10; Vol. 13 (9). Date of Electronic Publication: 2023 Sep 10.
Typ publikacji:: Journal Article

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Skocz do pozycji: 2.

Tytuł:: Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria.
Autorzy:: Minder AE; Division of Endocrinology, Diabetology, Porphyria and Clinical Nutrition, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.; Swiss Reference Centre for Porphyrias, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.
Schneider-Yin X; Swiss Reference Centre for Porphyrias, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.; Institute of Laboratory Medicine, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.; Faculty of Medicine, University of Zurich, 8006 Zurich, Switzerland.
Zulewski H; Division of Endocrinology, Diabetology, Porphyria and Clinical Nutrition, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.; Department of Biosystems Science and Engineering (D-BSSE), ETH, 8092 Zurich, Switzerland.; Faculty of Medicine, University of Basel, 4001 Basel, Switzerland.
Minder CE; Department of Social and Preventive Medicine, University of Bern, 3012 Bern, Switzerland.
Minder EI; Division of Endocrinology, Diabetology, Porphyria and Clinical Nutrition, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.; Swiss Reference Centre for Porphyrias, Stadtspital Zürich, Triemli, 8063 Zurich, Switzerland.; Faculty of Medicine, University of Zurich, 8006 Zurich, Switzerland.; Pokaż więcej
Źródło:: Life (Basel, Switzerland) [Life (Basel)] 2023 Apr 21; Vol. 13 (4). Date of Electronic Publication: 2023 Apr 21.
Typ publikacji:: Journal Article

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Skocz do pozycji: 3.

Tytuł:: Predictors for Unplanned Readmissions within 18 Days after Hospital Discharge: a Retrospective Cohort Study.
Autorzy:: Boesing M; University Clinic of Medicine, Cantonal Hospital Baselland, Liestal, Switzerland.; Contributed equally.
Gregoriano C; Medical University Department of Internal Medicine, Cantonal Hospital Aarau, Aarau, Switzerland.; Contributed equally.
Minder AE; Division of Endocrinology, Diabetology, Porphyria, Stadtspital Waid and Triemli, Zurich, Switzerland.; Contributed equally.
Abshagen C; Medical and financial controlling, University Hospital of Basel, Basel, Switzerland.
Dahl S; Faculty of Medicine, University of Basel, Basel, Switzerland.
Dieterle T; Faculty of Medicine, University of Basel, Basel, Switzerland.; Division of Cardiology, Klinik, Arlesheim, Switzerland.
Eicher F; Impulze GmBH, Zurich, Switzerland.
Leuppi-Taegtmeyer AB; University Clinic of Medicine, Cantonal Hospital Baselland, Liestal, Switzerland.; Faculty of Medicine, University of Basel, Basel, Switzerland.; Division of Clinical Pharmacology & Toxicology, University Hospital Basel, Switzerland.
Rageth L; Faculty of Medicine, University of Basel, Basel, Switzerland.
Miedinger D; University Clinic of Medicine, Cantonal Hospital Baselland, Liestal, Switzerland.; Faculty of Medicine, University of Basel, Basel, Switzerland.
Wirz E; Faculty of Medicine, University of Basel, Basel, Switzerland.
Leuppi JD; University Clinic of Medicine, Cantonal Hospital Baselland, Liestal, Switzerland.; Faculty of Medicine, University of Basel, Basel, Switzerland.; Pokaż więcej
Źródło:: Praxis [Praxis (Bern 1994)] 2023 Feb; Vol. 112 (2), pp. 57-63.
Typ publikacji:: Journal Article
MeSH Terms:: Patient Readmission*
Patient Discharge*
Humans ; Male ; Aged ; Female ; Retrospective Studies ; Hospitalization ; Hospitals, University

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Skocz do pozycji: 4.

Tytuł:: Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide - a three years observational study.
Autorzy:: Barman-Aksözen J; Institute of Laboratory Medicine, Stadtspital Waid und Triemli, Zurich, Switzerland.
Nydegger M; Institute of Anesthesia and Intensive Medicine, Stadtspital Waid und Triemli, Zurich, Switzerland.
Schneider-Yin X; Institute of Laboratory Medicine, Stadtspital Waid und Triemli, Zurich, Switzerland.
Minder AE; Department for Endocrinology, Diabetology, Porphyria, Stadtspital Waid und Triemli, Zurich, Switzerland. anna.minder@triemli.zuerich.ch.; Pokaż więcej
Źródło:: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2020 Aug 18; Vol. 15 (1), pp. 213. Date of Electronic Publication: 2020 Aug 18.
Typ publikacji:: Journal Article; Observational Study; Research Support, Non-U.S. Gov't
MeSH Terms:: Burns*
Protoporphyria, Erythropoietic*/drug therapy
Humans ; Quality of Life ; alpha-MSH/analogs & derivatives

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Skocz do pozycji: 5.

Tytuł:: A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Autorzy:: Barman-Aksözen J; a Institute of Laboratory Medicine, Triemli Hospital , Zurich , Switzerland.
Suter L; a Institute of Laboratory Medicine, Triemli Hospital , Zurich , Switzerland.
Wegmann F; a Institute of Laboratory Medicine, Triemli Hospital , Zurich , Switzerland.
Meienberg J; b Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases , Schlieren-Zurich , Switzerland.
Minder AE; c Division of Endocrinology, Department of Internal Medicine, Triemli Hospital , Zurich , Switzerland.
Beer M; d Institute of Pathology, Triemli Hospital , Zurich , Switzerland.
Komminoth P; d Institute of Pathology, Triemli Hospital , Zurich , Switzerland.
Minder EI; c Division of Endocrinology, Department of Internal Medicine, Triemli Hospital , Zurich , Switzerland.
Schneider-Yin X; a Institute of Laboratory Medicine, Triemli Hospital , Zurich , Switzerland.; Pokaż więcej
Źródło:: Scandinavian journal of clinical and laboratory investigation [Scand J Clin Lab Invest] 2019 Sep; Vol. 79 (5), pp. 305-313. Date of Electronic Publication: 2019 Jun 01.
Typ publikacji:: Journal Article
MeSH Terms:: DNA Mutational Analysis/*methods
High-Throughput Nucleotide Sequencing/*methods
Porphobilinogen Synthase/*deficiency
Porphyrias, Hepatic/*genetics
Alleles ; Base Sequence ; Cohort Studies ; Humans ; Mutation/genetics ; Polymorphism, Single Nucleotide/genetics ; Porphobilinogen Synthase/genetics
SCR Disease Name:: Porphyria, Acute Hepatic

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