4.6 Article

Systematic cascade screening in the Danish Fabry Disease Centre: 20 years of a national single-centre experience

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Genetics & Heredity

Globotriaosylsphingosine (lyso-Gb3) and analogues in plasma and urine of patients with Fabry disease and correlations with long-term treatment and genotypes in a nationwide female Danish cohort

Grigoris Effraimidis et al.

Summary: Recent studies have shown the utility of lyso-Gb(3) and related analogues as biomarkers for Fabry disease patients. This study found a strong correlation between plasma and urine levels of lyso-Gb(3) and analogues, with significant reductions post-treatment in treated patients compared to untreated patients. These findings suggest that biomarker cut-off levels could potentially be a useful tool for treatment initiation in Fabry disease patients.

JOURNAL OF MEDICAL GENETICS (2021)

Article Multidisciplinary Sciences

Nationwide screening for Fabry disease in unselected stroke patients

Ales Tomek et al.

Summary: This study investigates the prevalence of Fabry disease (FD) and stroke risk in unselected stroke patients, finding the prevalence of FD in this group to be 0.2%. The study suggests the need for FD screening in patients who have had a stroke event before the age of 50.

PLOS ONE (2021)

Meeting Abstract Endocrinology & Metabolism

Hearing loss in Fabry disease: A 16 year follow-up study of the Danish nationwide cohort

Puriya Daniel Wurtz Yazdanfard et al.

MOLECULAR GENETICS AND METABOLISM (2021)

Review Genetics & Heredity

The benefits and challenges of family genetic testing in rare genetic diseases - lessons from Fabry disease

Dominique P. Germain et al.

Summary: Family genetic testing is crucial for early diagnosis of patients with rare genetic diseases, but faces challenges in some countries due to barriers such as costs, awareness, and cultural factors.

MOLECULAR GENETICS & GENOMIC MEDICINE (2021)

Review Biochemistry & Molecular Biology

X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis

Emanuela Viggiano et al.

Summary: Anderson-Fabry disease is an X-linked genetic disorder with higher incidence in affected males, but also poses risks for female carriers. The clinical symptoms of the disease are diverse, and studies suggest a correlation between skewed X chromosome inactivation and symptoms in carriers.

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)

Article Genetics & Heredity

Long-term follow-up of renal function in patients treated with migalastat for Fabry disease

Daniel G. Bichet et al.

Summary: The study conducted an integrated posthoc analysis to evaluate the long-term renal outcomes in Fabry disease patients treated with migalastat for >= 2 years. The findings showed that patients with amenable GLA variants maintained renal function regardless of treatment status, sex, or phenotype during long-term migalastat treatment (<8.6 years).

MOLECULAR GENETICS AND METABOLISM REPORTS (2021)

Article Philosophy

The Right Not to Know: some Steps towards a Compromise

Ben Davies et al.

Summary: There is an ongoing debate in the medical field regarding whether patients have the right not to know crucial medical information, with the main focus being on autonomy. The study suggests that neither a liberty nor a duty perspective can support extreme stances on the right not to know, indicating a potential for compromise.

ETHICAL THEORY AND MORAL PRACTICE (2021)

Article Transplantation

Age-related renal function decline in Fabry disease patients on enzyme replacement therapy: a longitudinal cohort study

Christoffer V. Madsen et al.

NEPHROLOGY DIALYSIS TRANSPLANTATION (2019)

Article Multidisciplinary Sciences

Significant hearing loss in Fabry disease: Study of the Danish nationwide cohort prior to treatment

Puriya Daniel Yazdanfard et al.

PLOS ONE (2019)

Letter Genetics & Heredity

Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

Derralynn A. Hughes et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2019)

Article Medicine, General & Internal

Identification of Fabry Disease in a Tertiary Referral Cohort of Patients with Hypertrophic Cardiomyopathy

Martin S. Maron et al.

AMERICAN JOURNAL OF MEDICINE (2018)

Article Health Care Sciences & Services

Delivery Of Cascade Screening For Hereditary Conditions: A Scoping Review Of The Literature

Megan C. Roberts et al.

HEALTH AFFAIRS (2018)

Meeting Abstract Endocrinology & Metabolism

The D313Y variant in the GLA gene - no evidence of a pathogenic role in Fabry disease in 2 Danish families

Ulla Feldt-Rasmussen et al.

MOLECULAR GENETICS AND METABOLISM (2018)

Review Endocrinology & Metabolism

Fabry disease revisited: Management and treatment recommendations for adult patients

Alberto Ortiz et al.

MOLECULAR GENETICS AND METABOLISM (2018)

Review Endocrinology & Metabolism

European expert consensus statement on therapeutic goals in Fabry disease

Christoph Wanner et al.

MOLECULAR GENETICS AND METABOLISM (2018)

Article Cardiac & Cardiovascular Systems

Echocardiographic and clinical findings in patients with Fabry disease during long-term enzyme replacement therapy: a nationwide Danish cohort study

Christoffer Valdorff Madsen et al.

SCANDINAVIAN CARDIOVASCULAR JOURNAL (2017)

Article Medicine, General & Internal

Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat

D. P. Germain et al.

NEW ENGLAND JOURNAL OF MEDICINE (2016)

Article Genetics & Heredity

Ten-year outcome of enzyme replacement therapy with agalsidase beta in patients with Fabry disease

Dominique P. Germain et al.

JOURNAL OF MEDICAL GENETICS (2015)

Article Cardiac & Cardiovascular Systems

Familial globotriaosylceramide-associated cardiomyopathy mimicking Fabry disease

Turid Apelland et al.

Article Genetics & Heredity

Fabry disease in children: agalsidase-beta enzyme replacement therapy

L. Borgwardt et al.

CLINICAL GENETICS (2013)

Article Transplantation

Renal outcomes of agalsidase beta treatment for Fabry disease: role of proteinuria and timing of treatment initiation

David G. Warnock et al.

NEPHROLOGY DIALYSIS TRANSPLANTATION (2012)

Article Multidisciplinary Sciences

Receptor-Mediated Endocytosis of α-Galactosidase A in Human Podocytes in Fabry Disease

Thaneas Prabakaran et al.

PLOS ONE (2011)

Article Genetics & Heredity

An example of rapid prenatal diagnosis of Fabry's disease usingmicrotechniques

H. Galjaard et al.

CLINICAL GENETICS (2010)

Article Cardiac & Cardiovascular Systems

Fabry disease mimicking hypertrophic cardiomyopathy: genetic screening needed for establishing the diagnosis in women

Ole Havndrup et al.

EUROPEAN JOURNAL OF HEART FAILURE (2010)

Article Clinical Neurology

Autonomic skin responses in females with Fabry disease

Anette T. Moller et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2009)

Review Pharmacology & Pharmacy

Fabry disease

Raphael Schiffmann

PHARMACOLOGY & THERAPEUTICS (2009)

Article Endocrinology & Metabolism

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

William R. Wilcox et al.

MOLECULAR GENETICS AND METABOLISM (2008)

Article Endocrinology & Metabolism

Fabry disease: Baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry

C. M. Eng et al.

JOURNAL OF INHERITED METABOLIC DISEASE (2007)

Article Clinical Neurology

Small-fibre neuropathy in female Fabry patients:: reduced allodynia and skin blood flow after topical capsaicin

Anette T. Moller et al.

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2006)

Review Genetics & Heredity

Fabry disease: Guidelines for the evaluation and management of multi-organ system involvement

Christine M. Eng et al.

GENETICS IN MEDICINE (2006)

Article Endocrinology & Metabolism

Fabry disease:: a new challenge in endocrinology and metabolism?

U Feldt-Rasmussen et al.

EUROPEAN JOURNAL OF ENDOCRINOLOGY (2002)