UB Paderborn / Katalog / Suche / in CDI

Sortiert nach

Einfacher Volltextzugriff von (fast) überall

Installieren Sie die LibKey Nomad-Browsererweiterung und erhalten Sie von vielen Webseiten einfachen Zugriff auf lizenzierte Volltexte oder Open Access Publikationen. Mehr erfahren...

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup

Journal of medical genetics, 2020-08, Vol.57 (8), p.542-551

2020

Volltextzugriff (PDF)

Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies

PloS one, 2017-03, Vol.12 (3), p.e0173358-e0173358

2017

Volltextzugriff (PDF)

Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community

Molecular genetics and metabolism, 2023-07, Vol.139 (3), p.107603-107603, Article 107603

2023

Volltextzugriff (PDF)

Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued

Molecular genetics and metabolism, 2020-08, Vol.130 (4), p.227-229

Politei, Juan

2020

Volltextzugriff (PDF)

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

BMC neurology, 2011-05, Vol.11 (1), p.61-61, Article 61

2011

Volltextzugriff (PDF)

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

CNS neuroscience & therapeutics, 2016-07, Vol.22 (7), p.568-576

2016

Volltextzugriff (PDF)

Review of Brain-Assessment Techniques

Clinical therapeutics, 2012-04, Vol.34 (4), p.e9-e9

Politei, Juan, Dr

2012

Volltextzugriff (PDF)

Fabry disease and COVID-19: international expert recommendations for management based on real-world experience

Clinical Kidney Journal, 2020-12, Vol.13 (6), p.913-925

2020

Volltextzugriff (PDF)

Determinants of white matter hyperintensity burden in patients with Fabry disease

Neurology, 2016-05, Vol.86 (20), p.1880-1886

2016

Volltextzugriff (PDF)

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

Molecular genetics & genomic medicine, 2021-05, Vol.9 (5), p.e1666-n/a

2021

Volltextzugriff (PDF)

Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study

Molecular genetics and metabolism reports, 2022-06, Vol.31, p.100862-100862, Article 100862

2022

Volltextzugriff (PDF)

Treatment with agalsidase beta during pregnancy in Fabry disease

The journal of obstetrics and gynaecology research, 2010-04, Vol.36 (2), p.428-429

Politei, Juan M.

2010

Volltextzugriff (PDF)

Foot Process Effacement Is an Early Marker of Nephropathy in Young Classic Fabry Patients without Albuminuria

Nephron (2015), 2015-01, Vol.129 (1), p.16-21

2015

Volltextzugriff (PDF)

Editorial Letter to Special Issue Fabry Disease

Journal of inborn errors of metabolism and screening, 2016-07, Vol.4, p.232640981666135

Politei, Juan

2016

Volltextzugriff (PDF)

Baseline Characteristics of Fabry Disease “Amenable” Migalastat Patients in Argentinian Cohort

Global health, epidemiology and genomics, 2024, Vol.2024, p.9293896-8

2024

Volltextzugriff (PDF)

Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease

Molecular genetics and metabolism reports, 2021-12, Vol.29, p.100824-100824, Article 100824

2021

Volltextzugriff (PDF)

Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America

Journal of pain and symptom management, 2018-07, Vol.56 (1), p.146-152

2018

Volltextzugriff (PDF)

The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status

JIMD reports, 2019-09, Vol.49 (1), p.107-117

2019

Volltextzugriff (PDF)

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

JIMD reports, 2021-03, Vol.58 (1), p.104-113

2021

Volltextzugriff (PDF)

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

Frontiers in medicine, 2023-09, Vol.10, p.1220637-1220637

2023

Volltextzugriff (PDF)

Clinically meaningful outcomes after one year of treatment with setmelanotide in an adult patient with a variant in SH2B1

Obesity facts, 2024-09, p.1

2024

Volltextzugriff (PDF)

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype

Molecular genetics and metabolism reports, 2020-12, Vol.25, p.100670-100670, Article 100670

2020

Volltextzugriff (PDF)

Genotype-Phenotype Variations of Renal Complications in Fabry Disease Q279X Mutation

Journal of inborn errors of metabolism and screening, 2020, Vol.8

2020

Volltextzugriff (PDF)

Fabry disease: Lyso-Gb3 normalization as a reachable therapeutic goal

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107262, Article 107262

2023

Volltextzugriff (PDF)

Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina

Molecular genetics and metabolism reports, 2017-06, Vol.11 (C), p.65-68

2017

Volltextzugriff (PDF)

1 – 25 von 157

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(149)
Mit Volltextzugriff
(137)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

Science & Technology
(52)
Life Sciences & Biomedicine
(50)
Fabry Disease
(39)
Enzyme Replacement Therapy
(33)
Humans
(32)
Genetics & Heredity
(25)
Female
(15)
Enzymes
(14)
Male
(14)
Fabry's Disease
(12)
Urology & Nephrology
(12)
Adult
(11)
Enfermedad De Fabry
(11)
Neurosciences & Neurology
(11)
Clinical Neurology
(10)
Patients
(10)
Alpha-Galactosidase - Therapeutic Use
(9)
Fabry Disease - Drug Therapy
(9)
Medicine, General & Internal
(9)
Adolescent
(8)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 7 Tagen
(1)
... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

Use of a rare disease registry for establishing phenotypic classification of previously unassigned GLA variants: a consensus classification system by a multispecialty Fabry disease genotype–phenotype workgroup

Enzyme replacement therapy for Anderson-Fabry disease: A complementary overview of a Cochrane publication through a linear regression and a pooled analysis of proportions from cohort studies

Global reach of over 20 years of experience in the patient-centered Fabry Registry: Advancement of Fabry disease expertise and dissemination of real-world evidence to the Fabry community

Fabry disease during the COVID-19 pandemic. Why and how treatment should be continued

Early diagnosis of peripheral nervous system involvement in Fabry disease and treatment of neuropathic pain: the report of an expert panel

Pain in Fabry Disease: Practical Recommendations for Diagnosis and Treatment

Review of Brain-Assessment Techniques

Fabry disease and COVID-19: international expert recommendations for management based on real-world experience

Determinants of white matter hyperintensity burden in patients with Fabry disease

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

Understanding and modifying Fabry disease: Rationale and design of a pivotal Phase 3 study and results from a patient-reported outcome validation study

Treatment with agalsidase beta during pregnancy in Fabry disease

Foot Process Effacement Is an Early Marker of Nephropathy in Young Classic Fabry Patients without Albuminuria

Editorial Letter to Special Issue Fabry Disease

Baseline Characteristics of Fabry Disease “Amenable” Migalastat Patients in Argentinian Cohort

Fabry Disease Patient-Reported Outcome (FD-PRO) demonstrates robust measurement properties for assessing symptom severity in Fabry disease

Recommendations for Evaluation and Management of Pain in Patients With Mucopolysaccharidosis in Latin America

The clinical profiles of female patients with Fabry disease in Latin America: A Fabry Registry analysis of natural history data from 169 patients based on enzyme replacement therapy status

Enzyme replacement therapy interruption in mucopolysaccharidosis type IVA patients and its impact in different clinical outcomes

Consensus recommendations for the treatment and management of patients with Fabry disease on migalastat: a modified Delphi study

Clinically meaningful outcomes after one year of treatment with setmelanotide in an adult patient with a variant in SH2B1

Improvement of gastrointestinal symptoms in a significant proportion of male patients with classic Fabry disease treated with agalsidase beta: A Fabry Registry analysis stratified by phenotype

Genotype-Phenotype Variations of Renal Complications in Fabry Disease Q279X Mutation

Fabry disease: Lyso-Gb3 normalization as a reachable therapeutic goal

Effectiveness of enzyme replacement therapy in Fabry disease: Long term experience in Argentina

Suchergebnisse filtern