UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 193

Sortiert nach

The definition of neuronopathic Gaucher disease

Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.1056-1059

2020

Volltextzugriff (PDF)

Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies

International journal of molecular sciences, 2022-09, Vol.23 (18), p.10573

2022

Volltextzugriff (PDF)

Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease

Orphanet journal of rare diseases, 2022-06, Vol.17 (1), p.1-234, Article 234

2022

Volltextzugriff (PDF)

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

Molecular genetics & genomic medicine, 2019-03, Vol.7 (3), p.e564-n/a

2019

Volltextzugriff (PDF)

Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

Orphanet journal of rare diseases, 2020-12, Vol.15 (1), p.349-349, Article 349

2020

Volltextzugriff (PDF)

Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease

Orphanet journal of rare diseases, 2019-09, Vol.14 (1), p.212-212, Article 212

2019

Volltextzugriff (PDF)

The meningeal immune landscape in mucopolysaccharidosis type IIIA

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107992, Article 107992

2024

Volltextzugriff (PDF)

Is Gaucher disease in children a continuum of phenotype, a hypothesis or is it clinically evidence-based? Analysis of Egyptian and American cohorts

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107740, Article 107740

2024

Volltextzugriff (PDF)

Is it time to redefine what it means to have type 3 Gaucher disease?

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S40-S40

2018

Volltextzugriff (PDF)

In-depth phenotyping for clinical stratification of Gaucher disease

Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.431-431, Article 431

2021

Volltextzugriff (PDF)

Challenges and strategies with international recruitment in early phase gene therapy trials

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107301, Article 107301

2023

Volltextzugriff (PDF)

Safety and preliminary efficacy of LYS-GM101 gene therapy in patients with GM1 gangliosidosis: Results of a phase I/II open-label clinical trial

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107839, Article 107839

2024

Volltextzugriff (PDF)

Feasibility of wearable technologies as an outcome measure in neuronopathic Gaucher disease (nGD)

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S39-S39

2018

Volltextzugriff (PDF)

Neuronopathic Gaucher disease; patient association takes the lead to improve awareness and encourage collaborative working

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.S39-S40

2018

Volltextzugriff (PDF)

UK paediatric trainee research involvement: A national mixed-methods survey to highlight opportunities and challenges

Archives of disease in childhood, 2024-03, Vol.109 (3), p.256

2024

Volltextzugriff (PDF)

Sustained improvement of clinical CNS and somatic features of Gaucher disease type 3 after haematopoietic stem cell (HSC) gene therapy: A first-in-world report

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107083, Article 107083

2023

Volltextzugriff (PDF)

Phase 1/2 study update of an AAV9-based gene therapy for Gaucher disease type 2 (PROVIDE trial)

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107238, Article 107238

2023

Volltextzugriff (PDF)

A retrospective review of the neurocognitive profile of patients with neuronopathic Gaucher disease in the UK: data from the GAUCHERITE study

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S42-S43

2017

Volltextzugriff (PDF)

From birth to the sixth decade - A natural history study of 42 patients with neuronopathic Gaucher disease

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.S49-S50

2019

Volltextzugriff (PDF)

Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma

Molecular genetics and metabolism, 2021-08, Vol.133 (4), p.335-344

2021

Volltextzugriff (PDF)

Neuronopathic Gaucher Disease : a Clinical Study

Donald, Aimee

2019

Volltextzugriff (PDF)

Wearable Technologies for Children with Chronic Illnesses: An Exploratory Approach

Therapeutic innovation & regulatory science, 2021-07, Vol.55 (4), p.799-806

2021

Volltextzugriff (PDF)

Unexpected and paediatric death in UK patients with neuronopathic Gaucher disease

Molecular genetics and metabolism, 2016-02, Vol.117 (2), p.S41-S42

2016

Volltextzugriff (PDF)

Antimicrobials from human skin commensal bacteria protect against Staphylococcus aureus and are deficient in atopic dermatitis

Science translational medicine, 2017-02, Vol.9 (378)

2017

Volltextzugriff (PDF)

cGMP production of astatine-211-labeled anti-CD45 antibodies for use in allogeneic hematopoietic cell transplantation for treatment of advanced hematopoietic malignancies

PloS one, 2018-10, Vol.13 (10), p.e0205135-e0205135

2018

Volltextzugriff (PDF)

1 – 25 von 193

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(176)
Mit Volltextzugriff
(174)

Publikationsform

Sprache

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Zeitschrift / Serie

5 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 90 Tagen
(2)

Menü

Weitere Dienste

Einstellungen

The definition of neuronopathic Gaucher disease

Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies

Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION

Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease

The meningeal immune landscape in mucopolysaccharidosis type IIIA

Is Gaucher disease in children a continuum of phenotype, a hypothesis or is it clinically evidence-based? Analysis of Egyptian and American cohorts

Is it time to redefine what it means to have type 3 Gaucher disease?

In-depth phenotyping for clinical stratification of Gaucher disease

Challenges and strategies with international recruitment in early phase gene therapy trials

Safety and preliminary efficacy of LYS-GM101 gene therapy in patients with GM1 gangliosidosis: Results of a phase I/II open-label clinical trial

Feasibility of wearable technologies as an outcome measure in neuronopathic Gaucher disease (nGD)

Neuronopathic Gaucher disease; patient association takes the lead to improve awareness and encourage collaborative working

UK paediatric trainee research involvement: A national mixed-methods survey to highlight opportunities and challenges

Sustained improvement of clinical CNS and somatic features of Gaucher disease type 3 after haematopoietic stem cell (HSC) gene therapy: A first-in-world report

Phase 1/2 study update of an AAV9-based gene therapy for Gaucher disease type 2 (PROVIDE trial)

A retrospective review of the neurocognitive profile of patients with neuronopathic Gaucher disease in the UK: data from the GAUCHERITE study

From birth to the sixth decade - A natural history study of 42 patients with neuronopathic Gaucher disease

Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma

Neuronopathic Gaucher Disease : a Clinical Study

Wearable Technologies for Children with Chronic Illnesses: An Exploratory Approach

Unexpected and paediatric death in UK patients with neuronopathic Gaucher disease

Antimicrobials from human skin commensal bacteria protect against Staphylococcus aureus and are deficient in atopic dermatitis

cGMP production of astatine-211-labeled anti-CD45 antibodies for use in allogeneic hematopoietic cell transplantation for treatment of advanced hematopoietic malignancies

Suchergebnisse filtern