Lysosomal diseases: Overview on current diagnosis and treatment

Plasma Pharmacokinetics of Valanafusp Alpha, a Human Insulin Receptor Antibody-Iduronidase Fusion Protein, in Patients with Mucopolysaccharidosis Type I

(2018) William M. Pardridge et al.   BIODRUGS

Should eliglustat be first line therapy for patients with type 1 Gaucher disease? Definitions of safety and efficacy

(2018) Ari Zimran et al.   BLOOD CELLS MOLECULES AND DISEASES

Gene editing of MPS I human fibroblasts by co-delivery of a CRISPR/Cas9 plasmid and a donor oligonucleotide using nanoemulsions as nonviral carriers

(2018) Roselena Silvestri Schuh et al.   EUROPEAN JOURNAL OF PHARMACEUTICS AND BIOPHARMACEUTICS

Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients

(2018) Tatiane Grazieli Hammerschmidt et al.   INTERNATIONAL JOURNAL OF DEVELOPMENTAL NEUROSCIENCE

Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months

(2018) Melissa P. Wasserstein et al.   JOURNAL OF INHERITED METABOLIC DISEASE

ICV-administered BMN 250 (NAGLU-IGF2) is well tolerated and reduces heparan sulfate accumulation in the CNS of subjects with Sanfilippo syndrome type B (MPS IIIB)

(2018) Nicole Muschol et al.   MOLECULAR GENETICS AND METABOLISM

Management and monitoring recommendations for the use of eliglustat in adults with type 1 Gaucher disease in Europe

(2017) Nadia Belmatoug et al.   European Journal of Internal Medicine

Phase I and II clinical trials for the mucopolysaccharidoses

(2017) Fabiano Poswar et al.   EXPERT OPINION ON INVESTIGATIONAL DRUGS

Relative frequency and estimated minimal frequency of Lysosomal Storage Diseases in Brazil: Report from a Reference Laboratory

(2017) Roberto Giugliani et al.   GENETICS AND MOLECULAR BIOLOGY

Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation

(2017) Su Han Lum et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Brain abnormalities in fucosidosis: transplantation or supportive therapy?

(2017) Minyan Jiang et al.   METABOLIC BRAIN DISEASE

Plasma LysoGb3: A useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes

(2017) Albina Nowak et al.   MOLECULAR GENETICS AND METABOLISM

Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease

(2017) Albina Nowak et al.   MOLECULAR GENETICS AND METABOLISM

Glycosaminoglycans detection methods: Applications of mass spectrometry

(2017) Francyne Kubaski et al.   MOLECULAR GENETICS AND METABOLISM

Duvoglustat HCl Increases Systemic and Tissue Exposure of Active Acid α-Glucosidase in Pompe Patients Co-administered with Alglucosidase α

(2017) Priya Kishnani et al.   MOLECULAR THERAPY

Developmental outcomes of cord blood transplantation for Krabbe disease

(2017) Matthew D. Wright et al.   NEUROLOGY

Open issues in Mucopolysaccharidosis type I-Hurler

(2017) Rossella Parini et al.   Orphanet Journal of Rare Diseases

Effects of long-term cysteamine treatment in patients with cystinosis

(2017) Gema Ariceta et al.   PEDIATRIC NEPHROLOGY

Non-sibling hematopoietic stem cell transplantation using myeloablative conditioning regimen in children with Maroteaux-Lamy syndrome: A brief report

(2017) Maryam Behfar et al.   PEDIATRIC TRANSPLANTATION

Effects of Cellular Methylation on Transgene Expression and Site-Specific Integration of Adeno-Associated Virus

(2017) Diptiman Chanda et al.   Genes

The lysosomal storage disease continuum with ageing-related neurodegenerative disease

(2016) Emyr Lloyd-Evans et al.   AGEING RESEARCH REVIEWS

Clinical course of sly syndrome (mucopolysaccharidosis type VII)

(2016) Adriana M Montaño et al.   JOURNAL OF MEDICAL GENETICS

Oral pharmacological chaperone migalastat compared with enzyme replacement therapy in Fabry disease: 18-month results from the randomised phase III ATTRACT study

(2016) Derralynn A Hughes et al.   JOURNAL OF MEDICAL GENETICS

Evidence for improved survival in postsymptomatic stem cell-transplanted patients with Krabbe's disease

(2016) Thomas J. Langan et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Cellular transplant therapies for globoid cell leukodystrophy: Preclinical and clinical observations

(2016) Keri R. Maher et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Diffusion tensor imaging: A biomarker of outcome in Krabbe's disease

(2016) Andrea Poretti et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Treatment for Krabbe's disease: Finding the combination

(2016) Christina R. Mikulka et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Substrate reduction therapy for Krabbe's disease

(2016) Scott A. Sands et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial

(2016) Maria Sessa et al.   LANCET

Hematopoietic stem cell transplantation for Morquio A syndrome

(2016) Hiromasa Yabe et al.   MOLECULAR GENETICS AND METABOLISM

Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States

(2016) Manisha Balwani et al.   MOLECULAR GENETICS AND METABOLISM

Neurodevelopmental Outcome after Hematopoietic Cell Transplantation in Inborn Errors of Metabolism: Current Considerations and Future Perspectives

(2016) Peter van Hasselt et al.   NEUROPEDIATRICS

Ambroxol chaperone therapy for neuronopathic Gaucher disease: A pilot study

(2016) Aya Narita et al.   Annals of Clinical and Translational Neurology

Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria

(2016) Antje Banning et al.   Scientific Reports

Osteopontin: a potential biomarker of Gaucher disease

(2015) Filippo Vairo et al.   ANNALS OF HEMATOLOGY

Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening

(2015) Sandra D.K. Kingma et al.   BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM

In vivo genome editing of the albumin locus as a platform for protein replacement therapy

(2015) R. Sharma et al.   BLOOD

Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study

(2015) M. Aldenhoven et al.   BLOOD

A phase I/II study of intrathecal idursulfase-IT in children with severe mucopolysaccharidosis II

(2015) Joseph Muenzer et al.   GENETICS IN MEDICINE

Safety of laronidase delivered into the spinal canal for treatment of cervical stenosis in mucopolysaccharidosis I

(2015) Patricia I. Dickson et al.   MOLECULAR GENETICS AND METABOLISM

Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report

(2015) Alexander A. Boucher et al.   Orphanet Journal of Rare Diseases

A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease

(2015) Anne-Katrin Giese et al.   Orphanet Journal of Rare Diseases

Recommendations for initiation and cessation of enzyme replacement therapy in patients with Fabry disease: the European Fabry Working Group consensus document

(2015) Marieke Biegstraaten et al.   Orphanet Journal of Rare Diseases

Enzyme replacement therapy: lessons learned and emerging questions

(2015) Agnieszka Jurecka et al.   Expert Opinion on Orphan Drugs

Evaluation of Aminoglycoside and Non-Aminoglycoside Compounds for Stop-Codon Readthrough Therapy in Four Lysosomal Storage Diseases

(2015) Marta Gómez-Grau et al.   PLoS One

A Multiplex Assay for the Diagnosis of Mucopolysaccharidoses and Mucolipidoses

(2015) Eveline J. Langereis et al.   PLoS One

Intracerebral Administration of Adeno-Associated Viral Vector Serotype rh.10 Carrying Human SGSH and SUMF1 cDNAs in Children with Mucopolysaccharidosis Type IIIA Disease: Results of a Phase I/II Trial

(2014) Marc Tardieu et al.   HUMAN GENE THERAPY

Cholesterol homeostatic responses provide biomarkers for monitoring treatment for the neurodegenerative disease Niemann–Pick C1 (NPC1)

(2014) Brett Tortelli et al.   HUMAN MOLECULAR GENETICS

Enzyme therapy and immune response in relation to CRIM status: the Dutch experience in classic infantile Pompe disease

(2014) Carin M. van Gelder et al.   JOURNAL OF INHERITED METABOLIC DISEASE

From Art to Science: Oligosaccharide Analysis by MALDI-TOF Mass Spectrometry Finally Replaces 1-Dimensional Thin-Layer Chromatography

(2013) K. Raymond et al.   CLINICAL CHEMISTRY

Miglustat: A Review of Its Use in Niemann-Pick Disease Type C

(2013) Katherine A. Lyseng-Williamson   DRUGS

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

(2013) L. Borgwardt et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Mucopolysaccharidosis type II: Identification of 30 novel mutations among Latin American patients

(2013) A.C. Brusius-Facchin et al.   MOLECULAR GENETICS AND METABOLISM

Glucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients

(2013) Arndt Rolfs et al.   PLoS One

Systemic Delivery of a Glucosylceramide Synthase Inhibitor Reduces CNS Substrates and Increases Lifespan in a Mouse Model of Type 2 Gaucher Disease

(2012) Mario A. Cabrera-Salazar et al.   PLoS One

Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases

(2011) Victoria Manwaring et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Determination of Total Homocysteine, Methylmalonic Acid, and 2-Methylcitric Acid in Dried Blood Spots by Tandem Mass Spectrometry

(2010) C. T. Turgeon et al.   CLINICAL CHEMISTRY

Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker

(2009) Sarah P Young et al.   GENETICS IN MEDICINE

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