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...

Two Decades of WORLDSymposium

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108107-108107, Article 108107

Whitley, Chester B.

2024

Volltextzugriff (PDF)

A Highly Efficacious PS Gene Editing System Corrects Metabolic and Neurological Complications of Mucopolysaccharidosis Type I

Molecular therapy, 2020-06, Vol.28 (6), p.1442-1454

2020

Volltextzugriff (PDF)

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA

The Journal of pediatrics, 2016-03, Vol.170, p.278-287.e4

2016

Volltextzugriff (PDF)

Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo syndrome) type IIIA

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108110-108110, Article 108110

2024

Volltextzugriff (PDF)

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Clinical genetics, 2019-10, Vol.96 (4), p.281-289

2019

Volltextzugriff (PDF)

Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.151-156

2019

Volltextzugriff (PDF)

Dose-Dependent Prevention of Metabolic and Neurologic Disease in Murine MPS II by ZFN-Mediated In Vivo Genome Editing

Molecular therapy, 2018-04, Vol.26 (4), p.1127-1136

2018

Volltextzugriff (PDF)

A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease

Molecular genetics and metabolism, 2018-04, Vol.123 (4), p.488-494

2018

Volltextzugriff (PDF)

Clinical Features of Lysosomal Acid Lipase Deficiency

Journal of pediatric gastroenterology and nutrition, 2015-12, Vol.61 (6), p.619-625

2015

Volltextzugriff (PDF)

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis

Orphanet journal of rare diseases, 2017-07, Vol.12 (1), p.125-125, Article 125

2017

Volltextzugriff (PDF)

WORLDSymposium™ 2017 Introduction

Molecular genetics and metabolism, 2017-01, Vol.120 (1-2), p.S2-S6

Whitley, Chester B.

2017

Volltextzugriff (PDF)

RTB lectin-mediated delivery of lysosomal α-l-iduronidase mitigates disease manifestations systemically including the central nervous system

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.105-111

2018

Volltextzugriff (PDF)

Sanfilippo syndrome: consensus guidelines for clinical care

Orphanet journal of rare diseases, 2022-10, Vol.17 (1), p.1-391, Article 391

2022

Volltextzugriff (PDF)

Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome

Orphanet journal of rare diseases, 2018-05, Vol.13 (1), p.76-76, Article 76

2018

Volltextzugriff (PDF)

Mapping brain networks in MPS I mice and their restoration following gene therapy

Scientific reports, 2023-08, Vol.13 (1), p.12716-12716, Article 12716

2023

Volltextzugriff (PDF)

Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B

The Journal of pediatrics, 2018-06, Vol.197, p.198-206.e2

2018

Volltextzugriff (PDF)

Enzyme Replacement is Associated with Better Cognitive Outcomes after Transplant in Hurler Syndrome

The Journal of pediatrics, 2013-02, Vol.162 (2), p.375-380.e1

2013

Volltextzugriff (PDF)

Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10‐year prospective study

Journal of inherited metabolic disease, 2023-07, Vol.46 (4), p.695-704

2023

Volltextzugriff (PDF)

A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases

Gene therapy, 2020-05, Vol.27 (5), p.226-236

2020

Volltextzugriff (PDF)

Infantile gangliosidoses: Mapping a timeline of clinical changes

Molecular genetics and metabolism, 2017-06, Vol.121 (2), p.170-179

2017

Volltextzugriff (PDF)

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial

Molecular genetics and metabolism, 2019-02, Vol.126 (2), p.121-130

2019

Volltextzugriff (PDF)

Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review

Genes, 2022-07, Vol.13 (8), p.1293

2022

Volltextzugriff (PDF)

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

The Lancet (British edition), 2007-08, Vol.370 (9586), p.504-510

2007

Volltextzugriff (PDF)

ZFN-Mediated In Vivo Genome Editing Corrects Murine Hurler Syndrome

Molecular therapy, 2019-01, Vol.27 (1), p.178-187

2019

Volltextzugriff (PDF)

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study

Molecular genetics and metabolism, 2018-02, Vol.123 (2), p.97-104

2018

Volltextzugriff (PDF)

1 – 25 von 422

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(409)
Mit Volltextzugriff
(406)

Publikationsform

Sprache

Englisch
(422)

Erscheinungsjahr

n.n

Thema

15 weitere anzeigen...

Weniger anzeigen...

Menü

Weitere Dienste

Einstellungen

Two Decades of WORLDSymposium

A Highly Efficacious PS Gene Editing System Corrects Metabolic and Neurological Complications of Mucopolysaccharidosis Type I

A Prospective Natural History Study of Mucopolysaccharidosis Type IIIA

Ability change across multiple domains in mucopolysaccharidosis (Sanfilippo syndrome) type IIIA

Genotype‐phenotype relationships in mucopolysaccharidosis type I (MPS I): Insights from the International MPS I Registry

Metabolomics profiling reveals profound metabolic impairments in mice and patients with Sandhoff disease

Dose-Dependent Prevention of Metabolic and Neurologic Disease in Murine MPS II by ZFN-Mediated In Vivo Genome Editing

A novel Blind Start study design to investigate vestronidase alfa for mucopolysaccharidosis VII, an ultra-rare genetic disease

Clinical Features of Lysosomal Acid Lipase Deficiency

Phenotype prediction for mucopolysaccharidosis type I by in silico analysis

WORLDSymposium™ 2017 Introduction

RTB lectin-mediated delivery of lysosomal α-l-iduronidase mitigates disease manifestations systemically including the central nervous system

Sanfilippo syndrome: consensus guidelines for clinical care

Beneath the floor: re-analysis of neurodevelopmental outcomes in untreated Hurler syndrome

Mapping brain networks in MPS I mice and their restoration following gene therapy

Observational Prospective Natural History of Patients with Sanfilippo Syndrome Type B

Enzyme Replacement is Associated with Better Cognitive Outcomes after Transplant in Hurler Syndrome

Persistent bone and joint disease despite current treatments for mucopolysaccharidosis types I, II, and VI: Data from a 10‐year prospective study

A novel gene editing system to treat both Tay-Sachs and Sandhoff diseases

Infantile gangliosidoses: Mapping a timeline of clinical changes

Intrathecal heparan-N-sulfatase in patients with Sanfilippo syndrome type A: A phase IIb randomized trial

Early Neonatal Cardiac Phenotype in Hurler Syndrome: Case Report and Literature Review

Efficacy of sapropterin dihydrochloride (tetrahydrobiopterin, 6R-BH4) for reduction of phenylalanine concentration in patients with phenylketonuria: a phase III randomised placebo-controlled study

ZFN-Mediated In Vivo Genome Editing Corrects Murine Hurler Syndrome

Distinct progression patterns of brain disease in infantile and juvenile gangliosidoses: Volumetric quantitative MRI study

Suchergebnisse filtern