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J

Jasmin Barman-Aksözen

Institute of Laboratory Medicine

H指数:14

被引数:576

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Access to orphan drugs in adults with inherited metabolic diseases in Switzerland: a single-center retrospective cohort study

瑞士成人遗传代谢病患者获得孤儿药的情况：一项单中心回顾性队列研究

Orphanet Journal of Rare Diseases

IF3.5

2026-05-180

OAAI

New pharmacotherapies for the erythropoietic protoporphyrias: an analysis of trial protocols from a patient perspective

治疗红细胞生成性原卟啉症的新型药物疗法：基于患者视角的临床试验方案分析

Orphanet Journal of Rare Diseases

IF3.5

2025-12-290

OAAI

Letter to the Editor-Qualitative evidence submitted by patients to NICE: need for more quality or unrealistic and unfair requirements?

Journal of Comparative Effectiveness Research

IF2.5

2025-10-010

PRE

EMA, It's Time to Reconsider! 10 Years Afamelanotide for Treating Erythropoietic Protoporphyria

EMA，是时候重新考虑了！阿法美罗酮治疗红细胞生成性原卟啉症已有10年

photodermatology photoimmunology photomedicine

IF0

2025-07-170

PRE

Long-term iron supplementation in four patients with X-linked erythropoietic protoporphyria: associations with serum proteins and erythrocyte protoporphyrin levels-a single-centre retrospective study

FRONTIERS IN MOLECULAR BIOSCIENCES

IF4

2025-02-130

OAAI

Erythropoietic protoporphyrias: Pathogenesis, diagnosis and management

LIVER INTERNATIONAL

IF5.2

2024-07-162

OAAI

Editorial on the Special Issue Heme Metabolism and Porphyria

IF3.4

2024-04-300

OAAI

Contrasting effect of iron supplementation iron in protoporpyria

IF15.8

2023-10-200

OA

Current trials in erythropoietic protoporphyria: are placebo controls ethical?

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2023-10-160

OAAI

First Report of a Low-Frequency Mosaic Mutation in the Hydroxymethylbilane Synthase Gene Causing Acute Intermittent Porphyria

IF3.4

2023-09-101

OAAI

Are payors ready for transparent prices yet?

LANCET REGIONAL HEALTH-EUROPE

IF13

2022-08-010

OA

Heme Biosynthetic Gene Expression Analysis With dPCR in Erythropoietic Protoporphyria Patients

FRONTIERS IN PHYSIOLOGY

IF3.4

2022-07-183

OAAI

Repurposing of glycine transport inhibitors for the treatment of erythropoietic protoporphyria

CELL CHEMICAL BIOLOGY

IF7.2

2021-08-0117

OAAI

Increased phototoxic burn tolerance time and quality of life in patients with erythropoietic protoporphyria treated with afamelanotide - a three years observational study

ORPHANET JOURNAL OF RARE DISEASES

IF3.5

2020-08-1819

OAAI

Association of Afamelanotide With Improved Outcomes in Patients With Erythropoietic Protoporphyria in Clinical Practice

JAMA DERMATOLOGY

IF11

2020-05-0132

OAAI

Delivery of oligonucleotides to bone marrow to modulate ferrochelatase splicing in a mouse model of erythropoietic protoporphyria

NUCLEIC ACIDS RESEARCH

IF13.1

2020-04-2019

OAAI

Delta-aminolevulinic acid synthase 2 expression in combination with iron as modifiers of disease severity in erythropoietic protoporphyria

MOLECULAR GENETICS AND METABOLISM

IF3.5

2019-11-0116

PRE

The Vampire Study: Significant elevation of faecal calprotectin in healthy volunteers after 300 ml blood ingestion mimicking upper gastrointestinal bleeding

UNITED EUROPEAN GASTROENTEROLOGY JOURNAL

IF6.7

2018-08-0111

OAAI

Modeling the ferrochelatase c. 315-48C modifier mutation for erythropoietic protoporphyria (EPP) in mice

DISEASE MODELS & MECHANISMS

IF3.3

2017-01-017

OAAI

Reference intervals for 24 laboratory parameters determined in 24-hour urine collections

CLINICAL CHEMISTRY AND LABORATORY MEDICINE

IF3.7

2016-01-0114

OAAI