UB Paderborn / Katalog / Suche / in CDI

1 – 25 von 52

Sortiert nach

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification

International journal of molecular sciences, 2020-05, Vol.21 (10), p.3448

2020

Volltextzugriff (PDF)

The expanding clinical and genetic spectrum of ATP1A3-related disorders

Neurology, 2014-03, Vol.82 (11), p.945

2014

Volltextzugriff (PDF)

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

EMBO molecular medicine, 2021-05, Vol.13 (5), p.e13376-n/a

2021

Volltextzugriff (PDF)

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

EMBO molecular medicine, 2023-03, Vol.15 (3), p.e14837-n/a

2023

Volltextzugriff (PDF)

Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase

Cell reports (Cambridge), 2018-07, Vol.24 (1), p.27-37.e4

2018

Volltextzugriff (PDF)

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins

Biochimica et biophysica acta, 2009-04, Vol.1793 (4), p.710-725

2009

Volltextzugriff (PDF)

Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities

Neuron (Cambridge, Mass.), 2017-03, Vol.93 (5), p.1015-1034

2017

Volltextzugriff (PDF)

Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review

Children (Basel), 2023-03, Vol.10 (3), p.595

2023

Volltextzugriff (PDF)

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia

JIMD reports, 2020-09, Vol.55 (1), p.38-43

2020

Volltextzugriff (PDF)

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

European journal of human genetics : EJHG, 2011-03, Vol.19 (3), p.253-261

2011

Volltextzugriff (PDF)

Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia

Biology open, 2020-05, Vol.9 (5)

2020

Volltextzugriff (PDF)

Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency

Frontiers in cell and developmental biology, 2022-06, Vol.10, p.843079-843079

2022

Volltextzugriff (PDF)

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient

JIMD reports, 2019-09, Vol.49 (1), p.48-52

2019

Volltextzugriff (PDF)

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

Molecular genetics & genomic medicine, 2020-09, Vol.8 (9), p.e1167-n/a

2020

Volltextzugriff (PDF)

Single vs. dual transgene gene therapy for multiple sulfatase deficiency

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.107996, Article 107996

2024

Volltextzugriff (PDF)

Single vs. dual transgene ex vivo gene therapy for multiple sulfatase deficiency

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

2024

Volltextzugriff (PDF)

The impact of multiple sulfatase deficiency on children and families: A caregiver's perspective

Molecular genetics and metabolism, 2024-02, Vol.141 (2), p.108091, Article 108091

2024

Volltextzugriff (PDF)

Prospective telemedicine natural history study of multiple sulfatase deficiency

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.106990, Article 106990

2023

Volltextzugriff (PDF)

Optimizing cross-correction to overcome limitations of ex vivo gene therapy in multiple sulfatase deficiency

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

2023

Volltextzugriff (PDF)

Optimizing cross-correction to overcome limitations of gene therapy in multiple sulfatase deficiency

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.107267, Article 107267

2023

Volltextzugriff (PDF)

Development of disease-specific scale for multiple sulfatase deficiency

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.106988, Article 106988

2023

Volltextzugriff (PDF)

Biomarkers of disease severity in multiple sulfatase deficiency

Molecular genetics and metabolism, 2023-02, Vol.138 (2), p.106995, Article 106995

2023

Volltextzugriff (PDF)

An inducible expression system for the manipulation of autophagic flux in vivo

Autophagy, 2023-05, Vol.19 (5), p.1582-1595

2023

Volltextzugriff (PDF)

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency

Molecular therapy, 2024-08

2024

Volltextzugriff (PDF)

A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency

Journal of inherited metabolic disease, 2020-11, Vol.43 (6), p.1288-1297

2020

Volltextzugriff (PDF)

1 – 25 von 52

Suche als RSS-Feed

Suchergebnisse filtern

Filter anzeigen

Nur zeigen

Geprüft (Peer-Review)
(48)
Mit Volltextzugriff
(49)

Publikationsform

Artikel
(48)
Berichte
(4)

Sprache

Englisch
(52)
Japanisch
(3)

Erscheinungsjahr

n.n

Thema

Life Sciences & Biomedicine
(25)
Science & Technology
(25)
Humans
(24)
Multiple Sulfatase Deficiency
(17)
Mutation
(15)
Multiple Sulfatase Deficiency Disease - Genetics
(11)
Endocrinology & Metabolism
(10)
Genetics & Heredity
(10)
Sumf1
(10)
Enzymes
(9)
Medicine, Research & Experimental
(9)
Proteins
(9)
Research & Experimental Medicine
(9)
Child, Preschool
(8)
Formylglycine-Generating Enzyme
(8)
Patients
(8)
Female
(7)
Multiple Sulfatase Deficiency Disease - Pathology
(7)
Sulfatases
(7)
Sulfatases - Genetics
(7)

15 weitere anzeigen...

Weniger anzeigen...

Neu hinzugefügt

... seit 30 Tagen
(1)

Menü

Weitere Dienste

Einstellungen

Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification

The expanding clinical and genetic spectrum of ATP1A3-related disorders

Bi‐allelic VPS16 variants limit HOPS/CORVET levels and cause a mucopolysaccharidosis‐like disease

Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency

Recognition and ER Quality Control of Misfolded Formylglycine-Generating Enzyme by Protein Disulfide Isomerase

Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann–Pick C1 disease — Lysosomal storage disorders caused by defects of non-lysosomal proteins

Autophagy and Neurodegeneration: Pathogenic Mechanisms and Therapeutic Opportunities

Multiple Sulfatase Deficiency from an Ophthalmologist's Perspective-Case Report and Literature Review

Mannose phosphate isomerase deficiency‐congenital disorder of glycosylation (MPI‐CDG) with cerebral venous sinus thrombosis as first and only presenting symptom: A rare but treatable cause of thrombophilia

SUMF1 mutations affecting stability and activity of formylglycine generating enzyme predict clinical outcome in multiple sulfatase deficiency

Zebrafish disease model of human RNASET2-deficient cystic leukoencephalopathy displays abnormalities in early microglia

Unexpected Phenotype Reversion and Survival in a Zebrafish Model of Multiple Sulfatase Deficiency

Severe neonatal multiple sulfatase deficiency presenting with hydrops fetalis in a preterm birth patient

A homozygous missense variant of SUMF1 in the Bedouin population extends the clinical spectrum in ultrarare neonatal multiple sulfatase deficiency

Single vs. dual transgene gene therapy for multiple sulfatase deficiency

Single vs. dual transgene ex vivo gene therapy for multiple sulfatase deficiency

The impact of multiple sulfatase deficiency on children and families: A caregiver's perspective

Prospective telemedicine natural history study of multiple sulfatase deficiency

Optimizing cross-correction to overcome limitations of ex vivo gene therapy in multiple sulfatase deficiency

Optimizing cross-correction to overcome limitations of gene therapy in multiple sulfatase deficiency

Development of disease-specific scale for multiple sulfatase deficiency

Biomarkers of disease severity in multiple sulfatase deficiency

An inducible expression system for the manipulation of autophagic flux in vivo

Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency

A systematic review and meta‐analysis of published cases reveals the natural disease history in multiple sulfatase deficiency

Suchergebnisse filtern