Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience

(2010) A. Zimran et al.   BLOOD

Newborn screening for Fabry disease by measuring GLA activity using tandem mass spectrometry

(2010) Angéla Dajnoki et al.   CLINICA CHIMICA ACTA

Immune tolerance induction to enzyme-replacement therapy by co-administration of short-term, low-dose methotrexate in a murine Pompe disease model

(2010) A. Joseph et al.   CLINICAL AND EXPERIMENTAL IMMUNOLOGY

The Role of Glucocerebrosidase Mutations in Parkinson Disease and Lewy Body Disorders

(2010) Arash Velayati et al.   Current Neurology and Neuroscience Reports

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

Metachromatic Leukodystrophy: A Scoring System for Brain MR Imaging Observations

(2009) F. Eichler et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

Diffusion Tensor Imaging Detects Abnormalities in the Corticospinal Tracts of Neonates with Infantile Krabbe Disease

(2009) M.L. Escolar et al.   AMERICAN JOURNAL OF NEURORADIOLOGY

High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

(2009) Hsiang-Yu Lin et al.   Circulation-Cardiovascular Genetics

Implementation of newborn screening for Krabbe disease: Population study and cutoff determination

(2009) Joseph J. Orsini et al.   CLINICAL BIOCHEMISTRY

Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation

(2009) A Biffi et al.   CLINICAL GENETICS

Improvement of bone disease by imiglucerase (Cerezyme) therapy in patients with skeletal manifestations of type 1 Gaucher disease: results of a 48-month longitudinal cohort study

(2009) KB Sims et al.   CLINICAL GENETICS

Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease

(2009) Harrison N. Jones et al.   DYSPHAGIA

Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry

(2009) Stephen Waldek et al.   GENETICS IN MEDICINE

The long-term outcomes of presymptomatic infants transplanted for Krabbe disease: Report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York

(2009) Patricia K Duffner et al.   GENETICS IN MEDICINE

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

Management of neuronopathic Gaucher disease: Revised recommendations

(2009) A. Vellodi et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Recommendations on Diagnosis, Treatment, and Monitoring for Gaucher Disease

(2009) Ana Maria Martins et al.   JOURNAL OF PEDIATRICS

Bone Marrow Transplantation in Children with Hunter Syndrome: Outcome after 7 to 17 Years

(2009) Nathalie Guffon et al.   JOURNAL OF PEDIATRICS

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

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

Elimination of Antibodies to Recombinant Enzyme in Pompe's Disease

(2009) Nancy J. Mendelsohn et al.   NEW ENGLAND JOURNAL OF MEDICINE

Newborn Screening for Krabbe Disease: the New York State Model

(2009) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

(2009) Y.-H. Chien et al.   PEDIATRICS

A Plant-Derived Recombinant Human Glucocerebrosidase Enzyme—A Preclinical and Phase I Investigation

(2009) David Aviezer et al.   PLoS One

Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options

(2008) Volkmar Gieselmann   ACTA PAEDIATRICA

Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy

(2008) Tyler Mark Pierson et al.   ANNALS OF NEUROLOGY

Metachromatic leukodystrophy: an overview of current and prospective treatments

(2008) A Biffi et al.   BONE MARROW TRANSPLANTATION

Changes of Bone Metabolism in Seven Patients with Gaucher Disease Treated Consecutively with Imiglucerase and Miglustat

(2008) P. Mikosch et al.   CALCIFIED TISSUE INTERNATIONAL

Diagnosis of Metachromatic Leukodystrophy by Immune Quantification of Arylsulphatase A Protein and Activity in Dried Blood Spots

(2008) Mohd. A. F. Tan et al.   CLINICAL CHEMISTRY

Newborn Screening for Pompe Disease by Measuring Acid  -Glucosidase Activity Using Tandem Mass Spectrometry

(2008) A. Dajnoki et al.   CLINICAL CHEMISTRY

Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders

(2008) V. R. De Jesus et al.   CLINICAL CHEMISTRY

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

(2008) S. Blanchard et al.   CLINICAL CHEMISTRY

Multiplex Enzyme Assay Screening of Dried Blood Spots for Lysosomal Storage Disorders by Using Tandem Mass Spectrometry

(2008) X. K. Zhang et al.   CLINICAL CHEMISTRY

Putting the Genetic Information Nondiscrimination Act in context

(2008) Mark A Rothstein   GENETICS IN MEDICINE

Legal update: living with the Genetic Information Nondiscrimination Act

(2008) Cheryl Erwin   GENETICS IN MEDICINE

Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report

(2008) N. Meuleman et al.   HAEMATOLOGICA

Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

(2008) Marian Kroos et al.   HUMAN MUTATION

Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

(2008) J. Cox-Brinkman et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

(2008) T. M. Cox et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Cardiac involvement in adults with Pompe disease

(2008) O. I. I. Soliman et al.   JOURNAL OF INTERNAL MEDICINE

Cognitive Outcome in Treated Patients with Chronic Neuronopathic Gaucher Disease

(2008) Ozlem Goker-Alpan et al.   JOURNAL OF PEDIATRICS

Cardiac evaluation in children and adults with Pompe disease sharing the common c.−32-13T>G genotype rarely reveals abnormalities

(2008) N.A.M.E. van der Beek et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Phenotype, diagnosis, and treatment of Gaucher's disease

(2008) Gregory A Grabowski   LANCET

Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

(2008) P. Laforêt et al.   NEUROLOGY

The Hunter's Hope Krabbe Family Database

(2008) Patricia K. Duffner et al.   PEDIATRIC NEUROLOGY

Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

(2008) Robert J Hopkin et al.   PEDIATRIC RESEARCH

Umbilical cord-blood transplantations from unrelated donors in patients with inherited metabolic diseases: Single-institute experience

(2008) Sadao Tokimasa et al.   PEDIATRIC TRANSPLANTATION

A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B

(2008) M. M. McGovern et al.   PEDIATRICS

Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

(2008) Y.-H. Chien et al.   PEDIATRICS

Mucopolysaccharidosis I: Management and Treatment Guidelines

(2008) J. Muenzer et al.   PEDIATRICS

Elevated globotriaosylsphingosine is a hallmark of Fabry disease

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

Thrombotic complications of a basilar artery aneurysm in a young adult with Pompe disease

(2008) Daniel Refai et al.   SURGICAL NEUROLOGY

Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy

(2007) Vanessa Gonçalves Pereira et al.   CLINICA CHIMICA ACTA

Methods for a prompt and reliable laboratory diagnosis of Pompe disease: Report from an international consensus meeting

(2007) B. Winchester et al.   MOLECULAR GENETICS AND METABOLISM

Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry

(2007) William R. Wilcox et al.   MOLECULAR GENETICS AND METABOLISM