UB Paderborn / Katalog / Suche / in CDI

Lysosomal Storage Diseases: From Pathophysiology to Therapy

Annual review of medicine, 2015-01, Vol.66 (1), p.471-486

2015

Link zum Volltext

Verfügbarkeit prüfen

Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

Molecular therapy, 2015-07, Vol.23 (7), p.1138-1148

2015

Link zum Volltext

Verfügbarkeit prüfen

Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome

Molecular genetics and metabolism, 2011-03, Vol.102 (3), p.378-382

2011

Link zum Volltext

Verfügbarkeit prüfen

Pharmacological chaperone therapy for lysosomal storage diseases

Future medicinal chemistry, 2014-06, Vol.6 (9), p.1031-1045

2014

Link zum Volltext

Verfügbarkeit prüfen

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

American journal of medical genetics. Part C, Seminars in medical genetics, 2011-02, Vol.157C (1), p.54-62

2011

Link zum Volltext

Verfügbarkeit prüfen

Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function

The Journal of immunology (1950), 2017-05, Vol.198 (10), p.3803-3808

2017

Link zum Volltext

Verfügbarkeit prüfen

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

Molecular therapy, 2009-06, Vol.17 (6), p.964-971

2009

Link zum Volltext

Verfügbarkeit prüfen

Pompe disease: from new views on pathophysiology to innovative therapeutic strategies

Current pharmaceutical biotechnology, 2011-06, Vol.12 (6), p.902

2011

Link zum Volltext

Verfügbarkeit prüfen

Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?

Orphanet journal of rare diseases, 2020-09, Vol.15 (1), p.262-262, Article 262

2020

Link zum Volltext

Verfügbarkeit prüfen

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

American journal of human genetics, 2012-01, Vol.90 (1), p.161-169

2012

Link zum Volltext

Verfügbarkeit prüfen

Therapeutic goals in the treatment of Gaucher disease

Seminars in hematology, 2004-10, Vol.41 (4 Suppl 5), p.4-14

2004

Link zum Volltext

Verfügbarkeit prüfen

Homocysteine lowering by folate-rich diet or pharmacological supplementations in subjects with moderate hyperhomocysteinemia

Nutrients, 2013-05, Vol.5 (5), p.1531-1543

2013

Link zum Volltext

Verfügbarkeit prüfen

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

Italian journal of pediatrics, 2016-04, Vol.42 (1), p.39-39, Article 39

2016

Link zum Volltext

Verfügbarkeit prüfen

pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

Human mutation, 2009-12, Vol.30 (12), p.1683-1692

2009

Link zum Volltext

Verfügbarkeit prüfen

Progression of Renal Damage in Glycogen Storage Disease Type I Is Associated to Hyperlipidemia: A Multicenter Prospective Italian Study

The Journal of pediatrics, 2015-04, Vol.166 (4), p.1079-1082

2015

Link zum Volltext

Verfügbarkeit prüfen

Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool

Molecular genetics and metabolism, 2013-09, Vol.110 (1-2), p.25-34

2013

Link zum Volltext

Verfügbarkeit prüfen

Respiratory manifestations in patients with inherited metabolic diseases

European respiratory review, 2013-12, Vol.22 (130), p.437-453

2013

Link zum Volltext

Verfügbarkeit prüfen

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

Pediatric radiology, 2015-07, Vol.45 (7), p.965-976

2015

Link zum Volltext

Verfügbarkeit prüfen

Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome

BMC medical genomics, 2013-07, Vol.6 (1), p.24-24, Article 24

2013

Link zum Volltext

Verfügbarkeit prüfen

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

Journal of inherited metabolic disease, 2010-12, Vol.33 (Suppl 3), p.91-94

2010

Link zum Volltext

Verfügbarkeit prüfen

Diagnosis and Management of Lysosomal Storage Disorders. Three Key Words: Early, Multidisciplinary, and Network

Cardiogenetics, 2013-02, Vol.3 (11), p.e1-e1

2013

Link zum Volltext

Verfügbarkeit prüfen

Cystathionine β-synthase mutations in homocystinuria

Human mutation, 1999, Vol.13 (5), p.362-375

1999

Link zum Volltext

Verfügbarkeit prüfen

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment: Consensus statements

European journal of pediatrics, 2004-02, Vol.163 (2), p.58-66

2004

Link zum Volltext

Verfügbarkeit prüfen

Genotype/phenotype correlation in glycogen storage disease type 1b : a multicentre study and review of the literature

European journal of pediatrics, 2005-08, Vol.164 (8), p.501-508

2005

Link zum Volltext

Verfügbarkeit prüfen

Hyperhomocysteinemia: Related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues

Molecular genetics and metabolism, 2014-09, Vol.113 (1-2), p.27-33

2014

Link zum Volltext

Verfügbarkeit prüfen

Menü

Weitere Dienste

Einstellungen

Lysosomal Storage Diseases: From Pathophysiology to Therapy

Pharmacological Chaperone Therapy: Preclinical Development, Clinical Translation, and Prospects for the Treatment of Lysosomal Storage Disorders

Impairment of methyl cycle affects mitochondrial methyl availability and glutathione level in Down's syndrome

Pharmacological chaperone therapy for lysosomal storage diseases

Lysinuric protein intolerance: Reviewing concepts on a multisystem disease

Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function

The Pharmacological Chaperone N-butyldeoxynojirimycin Enhances Enzyme Replacement Therapy in Pompe Disease Fibroblasts

Pompe disease: from new views on pathophysiology to innovative therapeutic strategies

Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives?

A Restricted Spectrum of Mutations in the SMAD4 Tumor-Suppressor Gene Underlies Myhre Syndrome

Therapeutic goals in the treatment of Gaucher disease

Homocysteine lowering by folate-rich diet or pharmacological supplementations in subjects with moderate hyperhomocysteinemia

New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants

pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase

Progression of Renal Damage in Glycogen Storage Disease Type I Is Associated to Hyperlipidemia: A Multicenter Prospective Italian Study

Mitochondrial DNA methylation as a next-generation biomarker and diagnostic tool

Respiratory manifestations in patients with inherited metabolic diseases

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

Validation of microarray data in human lymphoblasts shows a role of the ubiquitin-proteasome system and NF-kB in the pathogenesis of Down syndrome

The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach

Diagnosis and Management of Lysosomal Storage Disorders. Three Key Words: Early, Multidisciplinary, and Network

Cystathionine β-synthase mutations in homocystinuria

Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment: Consensus statements

Genotype/phenotype correlation in glycogen storage disease type 1b : a multicentre study and review of the literature

Hyperhomocysteinemia: Related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues

Suchergebnisse filtern