Review: Therapeutic approaches for lysosomal storage diseases

Gene Therapy for Lysosomal Storage Diseases (LSDs) in Large Animal Models

(2013) M. Haskins   ILAR JOURNAL

Activity of NAD(P)H oxidase in relation to genotypes: Comprehensive genetic mapping of single nucleotide polymorphisms (SNPs) in the p22phox subunit

(2011) M. Hoffmann et al.   INTERNATIONAL JOURNAL OF CLINICAL PHARMACOLOGY AND THERAPEUTICS

Long-Term Outcomes of Liver Transplantation in Type 1 Gaucher Disease

(2010) R. M. Ayto et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Low bone mass in Pompe disease

(2010) Linda E.M. van den Berg et al.   BONE

Enzyme Replacement Therapy in Fabry Disease: Influence on Cardiac Manifestations

(2010) L. Caballero et al.   CURRENT MEDICINAL CHEMISTRY

Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases

(2010) Einat B. Vitner et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Bone density in type 1 gaucher disease

(2010) Gregory M. Pastores et al.   JOURNAL OF BONE AND MINERAL RESEARCH

Clinical aspects of neuropathic lysosomal storage disorders

(2010) Laura Bannach Jardim et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Lessons learnt from animal models: pathophysiology of neuropathic lysosomal storage disorders

(2010) Kim M. Hemsley et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Newborn screening for neuropathic lysosomal storage disorders

(2010) Wuh-Liang Hwu et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Pathophysiology of neuropathic lysosomal storage disorders

(2010) Cinzia Maria Bellettato et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Successful Treatment of Metachromatic Leukodystrophy Using Bone Marrow Transplantation of HoxB4 Overexpressing Cells

(2010) Noriko Miyake et al.   MOLECULAR THERAPY

Endoplasmic reticulum Ca2+ increases enhance mutant glucocerebrosidase proteostasis

(2010) Derrick Sek Tong Ong et al.   Nature Chemical Biology

A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease

(2010) Ans T. van der Ploeg et al.   NEW ENGLAND JOURNAL OF MEDICINE

Lysosomal Storage Disease: Revealing Lysosomal Function and Physiology

(2010) Emma J. Parkinson-Lawrence et al.   PHYSIOLOGY

Intracranial gene delivery of LV-NAGLU vector corrects neuropathology in murine MPS IIIB

(2009) Carmela Di Domenico et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Effects of pH and Iminosugar Pharmacological Chaperones on Lysosomal Glycosidase Structure and Stability

(2009) Raquel L. Lieberman et al.   BIOCHEMISTRY

Cord blood and bone marrow transplantation in inherited metabolic diseases: scientific basis, current status and future directions

(2009) Vinod K. Prasad et al.   BRITISH JOURNAL OF HAEMATOLOGY

Examination of intravenous and intra-CSF protein delivery for treatment of neurological disease

(2009) Kim M. Hemsley et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Miglustat in late-onset Tay-Sachs disease: a 12-month, randomized, controlled clinical study with 24 months of extended treatment

(2009) Barbara E Shapiro et al.   GENETICS IN MEDICINE

Real-world clinical experience with long-term miglustat maintenance therapy in type 1 Gaucher disease: the ZAGAL project

(2009) P. Giraldo et al.   HAEMATOLOGICA

Antisense oligonucleotide treatment for a pseudoexon-generating mutation in theNPC1gene causing Niemann-Pick type C disease

(2009) Laura Rodríguez-Pascau et al.   HUMAN MUTATION

Miglustat therapy in juvenile Sandhoff disease

(2009) C. M. E. Tallaksen et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Substrate deprivation therapy in juvenile Sandhoff disease

(2009) S. B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: an analysis of registry data

(2009) A Mehta et al.   LANCET

Substrate reduction therapy in juvenile GM2 gangliosidosis

(2009) Gustavo H.B. Maegawa et al.   MOLECULAR GENETICS AND METABOLISM

Localized donor cells in brain of a Hunter disease patient after cord blood stem cell transplantation

(2009) Ken Araya et al.   MOLECULAR GENETICS AND METABOLISM

Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants

(2009) Priya S. Kishnani et al.   MOLECULAR GENETICS AND METABOLISM

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

(2009) Caterina Porto et al.   MOLECULAR THERAPY

Miglustat (Zavesca®) in type 1 Gaucher disease: 5-year results of a post-authorisation safety surveillance programme

(2009) Carla E. M. Hollak et al.   PHARMACOEPIDEMIOLOGY AND DRUG SAFETY

Reprogramming erythroid cells for lysosomal enzyme production leads to visceral and CNS cross-correction in mice with Hurler syndrome

(2009) D. Wang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Transplant Outcomes in Mucopolysaccharidoses

(2009) Vinod K. Prasad et al.   SEMINARS IN HEMATOLOGY

Outcome in six children with mucopolysaccharidosis type IH, hurler syndrome, after haematopoietic stem cell transplantation (HSCT)

(2008) Gunilla Malm et al.   ACTA PAEDIATRICA

CNS-directed gene therapy for lysosomal storage diseases

(2008) Mark S Sands et al.   ACTA PAEDIATRICA

Substrate reduction therapy

(2008) Frances M Platt et al.   ACTA PAEDIATRICA

Intrathecal enzyme replacement therapy in a patient with mucopolysaccharidosis type I and symptomatic spinal cord compression

(2008) Maria-Veronica Munoz-Rojas et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Combined Heart and Kidney Transplantation in a Patient with Fabry Disease in the Enzyme Replacement Therapy Era

(2008) A. Karras et al.   AMERICAN JOURNAL OF TRANSPLANTATION

Randomized, controlled trial of miglustat in Gaucher's disease type 3

(2008) Raphael Schiffmann et al.   ANNALS OF NEUROLOGY

Emerging trends in transplantation of inherited metabolic diseases

(2008) V K Prasad et al.   BONE MARROW TRANSPLANTATION

Chemical and Biological Approaches Synergize to Ameliorate Protein-Folding Diseases

(2008) Ting-Wei Mu et al.   CELL

Imatinib therapy blocks cerebellar apoptosis and improves neurological symptoms in a mouse model of Niemann-Pick type C disease

(2008) Alejandra R. Alvarez et al.   FASEB JOURNAL

Treatment of Late Infantile Neuronal Ceroid Lipofuscinosis by CNS Administration of a Serotype 2 Adeno-Associated Virus Expressing CLN2 cDNA

(2008) Stefan Worgall et al.   HUMAN GENE THERAPY

Chemically modified  -glucuronidase crosses blood-brain barrier and clears neuronal storage in murine mucopolysaccharidosis VII

(2008) J. H. Grubb et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Recommendations and guidelines for the diagnosis and treatment of Fabry nephropathy in adults

(2008) Alberto Ortiz et al.   Nature clinical practice. Nephrology