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1.
Efficacy and safety of givosiran for acute hepatic porphyria: Final results of the randomized phase III ENVISION trial.
J Hepatol
; 79(5): 1150-1158, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37479139
2.
EXPLORE B: A prospective, long-term natural history study of patients with acute hepatic porphyria with chronic symptoms.
J Inherit Metab Dis
; 45(6): 1163-1174, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36069414
3.
[Acute porphyrias viewed differently]. / Akute Porphyrien mal anders betrachtet.
Internist (Berl)
; 63(2): 224-229, 2022 Feb.
Article
in German
| MEDLINE | ID: mdl-34762156
4.
Letter to the Editor: Contrasting effect of iron supplementation in protoporphyria.
Hepatology
; 79(3): E87-E88, 2024 Mar 01.
Article
in English
| MEDLINE | ID: mdl-37862552
5.
Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria.
Mol Genet Metab
; 128(3): 304-308, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31076252
6.
A next-generation-sequencing panel for mutational analysis of dominant acute hepatic porphyrias.
Scand J Clin Lab Invest
; 79(5): 305-313, 2019 Sep.
Article
in English
| MEDLINE | ID: mdl-31154864
7.
Afamelanotide Is Associated with Dose-Dependent Protective Effect from Liver Damage Related to Erythropoietic Protoporphyria.
Life (Basel)
; 13(4)2023 Apr 21.
Article
in English
| MEDLINE | ID: mdl-37109595
8.
Quality-Adjusted Life Years in Erythropoietic Protoporphyria and Other Rare Diseases: A Patient-Initiated EQ-5D Feasibility Study.
Int J Environ Res Public Health
; 20(7)2023 03 28.
Article
in English
| MEDLINE | ID: mdl-37047912
9.
First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria.
Life (Basel)
; 13(9)2023 Sep 10.
Article
in English
| MEDLINE | ID: mdl-37763293
10.
Case Report: Variegate porphyria disclosed by post-gastric bypass complications and causing predominant painful sensorimotor axonal peripheral neuropathy.
Front Genet
; 13: 993453, 2022.
Article
in English
| MEDLINE | ID: mdl-36386813
11.
Beyond pigmentation: signs of liver protection during afamelanotide treatment in Swiss patients with erythropoietic protoporphyria, an observational study.
Ther Adv Rare Dis
; 2: 26330040211065453, 2021.
Article
in English
| MEDLINE | ID: mdl-37181106
12.
Repurposing of glycine transport inhibitors for the treatment of erythropoietic protoporphyria.
Cell Chem Biol
; 28(8): 1221-1234.e6, 2021 08 19.
Article
in English
| MEDLINE | ID: mdl-33756123
13.
Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide - a three years observational study.
Orphanet J Rare Dis
; 15(1): 213, 2020 08 18.
Article
in English
| MEDLINE | ID: mdl-32811524
14.
The prevalence of retinopathy in patients with type 1 diabetes treated with education-based intensified insulin therapy and its association with parameters of glucose control.
Diabetes Res Clin Pract
; 148: 234-239, 2019 Feb.
Article
in English
| MEDLINE | ID: mdl-30684505
15.
Severe Abdominal Pain After Bariatric Surgery: Think Twice-Think Porphyria!
Obes Surg
; 33(5): 1600-1602, 2023 05.
Article
in English
| MEDLINE | ID: mdl-37004689
16.
Effectiveness of Metyrapone in Treating Cushing's Syndrome: A Retrospective Multicenter Study in 195 Patients.
J Clin Endocrinol Metab
; 100(11): 4146-54, 2015 Nov.
Article
in English
| MEDLINE | ID: mdl-26353009
17.
Frequency of blood glucose testing in well educated patients with diabetes mellitus type 1: how often is enough?
Diabetes Res Clin Pract
; 101(1): 57-61, 2013 Jul.
Article
in English
| MEDLINE | ID: mdl-23726303
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