Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals

No abstract is available for this paper.

• Publication year

  2011

• Venue

  Genetics in Medicine

• Publication date

  2011-05-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1097/GIM.0b013e318211a7e1PMID 21502868
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

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

  2010cited by this paper
• Cross-reactive immunologic material status affects treatment outcomes in Pompe disease infants.

  2010cited by this paper
• Oropharyngeal Dysphagia in Infants and Children with Infantile Pompe Disease

  2010cited by this paper
• A randomized study of alglucosidase alfa in late-onset Pompe's disease.

  2010cited by this paper
• The Role of Glucocerebrosidase Mutations in Parkinson Disease and Lewy Body Disorders

  2010cited by this paper
• Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience.

  2010cited by this paper
• Recommendations on diagnosis, treatment, and monitoring for Gaucher disease.

  2009cited by this paper
• Mucopolysaccharidosis I: Management and Treatment Guidelines

  2009cited by this paper
• Long-term monitoring of patients with infantile-onset Pompe disease on enzyme replacement therapy using a urinary glucose tetrasaccharide biomarker

  2009cited by this paper
• High Incidence of the Cardiac Variant of Fabry Disease Revealed by Newborn Screening in the Taiwan Chinese Population

  2009cited by this paper
• Elimination of antibodies to recombinant enzyme in Pompe's disease.

  2009cited by this paper
• Management of neuronopathic Gaucher disease: Revised recommendations

  2009cited by this paper
• Implementation of newborn screening for Krabbe disease: population study and cutoff determination.

  2009cited by this paper
• Metachromatic Leukodystrophy: A Scoring System for Brain MR Imaging Observations

  2009cited by this paper
• Diffusion Tensor Imaging Detects Abnormalities in the Corticospinal Tracts of Neonates with Infantile Krabbe Disease

  2009cited by this paper
• Newborn screening for Krabbe disease: the New York State model.

  2009cited by this paper
• CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α -GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE

  2009cited by this paper
• Pompe Disease in Infants: Improving the Prognosis by Newborn Screening and Early Treatment

  2009cited by this paper
• Bone marrow transplantation in children with Hunter syndrome: outcome after 7 to 17 years.

  2009cited by this paper
• Development and evaluation of quality control dried blood spot materials in newborn screening for lysosomal storage disorders.

  2009cited by this paper
• Life expectancy and cause of death in males and females with Fabry disease: Findings from the Fabry Registry

  2009cited by this paper
• 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

  2009cited by this paper
• The Hunter's Hope Krabbe family database.

  2009cited by this paper
• A Plant-Derived Recombinant Human Glucocerebrosidase Enzyme—A Preclinical and Phase I Investigation

  2009cited by this paper
• Enzyme replacement therapy for Gaucher disease

  2009cited by this paper
• Combination of enzyme replacement and hematopoietic stem cell transplantation as therapy for Hurler syndrome

  2008cited by this paper
• Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency.

  2008cited by this paper
• Potential efficacy of enzyme replacement and substrate reduction therapy in three siblings with Gaucher disease type III

  2008cited by this paper
• A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B

  2008cited by this paper
• Newborn screening for Pompe disease by measuring acid alpha-glucosidase activity using tandem mass spectrometry.

  2008cited by this paper
• Update of the Pompe disease mutation database with 107 sequence variants and a format for severity rating

  2008cited by this paper
• Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting.

  2008cited by this paper
• Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots

  2008cited by this paper
• Cognitive outcome in treated patients with chronic neuronopathic Gaucher disease.

  2008cited by this paper
• Safety and efficacy of recombinant human alpha-galactosidase a replacement therapy in Fabry's disease.

  2008cited by this paper
• Changes of Bone Metabolism in Seven Patients with Gaucher Disease Treated Consecutively with Imiglucerase and Miglustat

  2008cited by this paper
• Cardiac evaluation in children and adults with Pompe disease sharing the common c.-32-13T>G genotype rarely reveals abnormalities.

  2008cited by this paper
• Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis IVA.

  2008cited by this paper
• Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spots.

  2008cited by this paper
• Putting the Genetic Information Nondiscrimination Act in context

  2008cited by this paper
• Umbilical cord blood transplantation for juvenile metachromatic leukodystrophy

  2008cited by this paper
• Elevated globotriaosylsphingosine is a hallmark of Fabry disease

  2008cited by this paper
• Multiplex enzyme assay screening of dried blood spots for lysosomal storage disorders by using tandem mass spectrometry.

  2008cited by this paper
• Cardiac involvement in adults with Pompe disease

  2008cited by this paper
• Metachromatic leukodystrophy: an overview of current and prospective treatments

  2008cited by this paper
• Tandem mass spectrometry for the direct assay of lysosomal enzymes in dried blood spots: application to screening newborns for mucopolysaccharidosis I.

  2008cited by this paper
• Mutational and oxidative stress analysis in patients with mucopolysaccharidosis type I undergoing enzyme replacement therapy.

  2008cited by this paper
• Umbilical cord‐blood transplantations from unrelated donors in patients with inherited metabolic diseases: Single‐institute experience

  2008cited by this paper
• 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

  2008cited by this paper
• Characterization of Fabry Disease in 352 Pediatric Patients in the Fabry Registry

  2008cited by this paper
• Early Detection of Pompe Disease by Newborn Screening Is Feasible: Results From the Taiwan Screening Program

  2008cited by this paper
• Immune tolerance induction to enzyme‐replacement therapy by co‐administration of short‐term, low‐dose methotrexate in a murine Pompe disease model

  2008cited by this paper
• Enzyme replacement therapy stabilizes obstructive pulmonary Fabry disease associated with respiratory globotriaosylceramide storage

  2008cited by this paper
• Management of non-neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring

  2008cited by this paper
• Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease

  2008cited by this paper
• Legal update: living with the Genetic Information Nondiscrimination Act

  2008cited by this paper
• Plasma glucosylceramide and ceramide in type 1 Gaucher disease patients: correlations with disease severity and response to therapeutic intervention.

  2008cited by this paper
• Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report

  2008cited by this paper
• Thrombotic complications of a basilar artery aneurysm in a young adult with Pompe disease.

  2008cited by this paper
• Metachromatic leukodystrophy – mutation analysis provides further evidence of genotype–phenotype correlation

  2008cited by this paper
• Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options

  2008cited by this paper
• Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

  2008cited by this paper
• Phenotype, diagnosis, and treatment of Gaucher's disease.

  2008cited by this paper
• Enzyme replacement therapy with agalsidase alfa in children with Fabry disease

  2007cited by this paper
• No justification for very high-dose enzyme therapy for patients with type III Gaucher disease

  2007cited by this paper
• Unsuccessful treatment attempt: Cord blood stem cell transplantation in a patient with Niemann–Pick disease type A

  2007cited by this paper
• Newborn Screening for Pompe Disease: Synthesis of the Evidence and Development of Screening Recommendations

  2007cited by this paper
• Outcomes of hematopoietic stem cell transplantation for Hurler's syndrome in Europe: a risk factor analysis for graft failure

  2007cited by this paper
• Management Guidelines for Mucopolysaccharidosis VI

  2007cited by this paper
• Broad spectrum of Pompe disease in patients with the same c.-32-13T→G haplotype

  2007cited by this paper
• Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.

  2007cited by this paper
• Correction of enzyme levels with allogeneic hematopoeitic progenitor cell transplantation in Niemann‐Pick type B

  2007cited by this paper
• Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy

  2007cited by this paper
• Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression

  2007cited by this paper
• Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease.

  2007cited by this paper
• Glycogen storage disease type II: clinical overview.

  2007cited by this paper
• Non‐neuronopathic Gaucher disease due to saposin C deficiency

  2007cited by this paper
• Neurologic Improvement in a Type 3 Gaucher Disease Patient Treated with Imiglucerase/Miglustat Combination

  2007cited by this paper
• Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies.

  2007cited by this paper
• A phase I/II clinical trial of enzyme replacement therapy in mucopolysaccharidosis II (Hunter syndrome).

  2007cited by this paper
• Nature and Prevalence of Pain in Fabry Disease and Its Response to Enzyme Replacement Therapy—A Retrospective Analysis From the Fabry Outcome Survey

  2007cited by this paper
• Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study

  2007cited by this paper
• Recommendations for the management of the haematological and onco-haematological aspects of Gaucher disease

  2007cited by this paper
• Sustained, long-term renal stabilization after 54 months of agalsidase beta therapy in patients with Fabry disease.

  2007cited by this paper
• Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy

  2007cited by this paper
• Pompe disease: current state of treatment modalities and animal models.

  2007cited by this paper
• Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease

  2007cited by this paper
• Enzyme Replacement Therapy in Patients Who Have Mucopolysaccharidosis I and Are Younger Than 5 Years: Results of a Multinational Study of Recombinant Human α-l-Iduronidase (Laronidase)

  2007cited by this paper
• Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life

  2007cited by this paper
• Mutational analysis of 105 mucopolysaccharidosis type VI patients

  2007cited by this paper
• Mucopolysaccharidosis type II: an update on mutation spectrum

  2007cited by this paper
• Enhanced response to enzyme replacement therapy in Pompe disease after the induction of immune tolerance.

  2007cited by this paper
• Recombinant human acid α-glucosidase: Major clinical benefits in infantile-onset Pompe disease

  2007cited by this paper
• Outcome of type III Gaucher disease on enzyme replacement therapy: Review of 55 cases

  2007cited by this paper
• Enzyme, cell and gene-based therapies for metachromatic leukodystrophy

  2007cited by this paper
• Agalsidase-Beta Therapy for Advanced Fabry Disease

  2007cited by this paper
• High prevalence of Cohen syndrome among Irish travellers.

  2007cited by this paper
• NICHD research initiative in newborn screening.

  2006cited by this paper
• Newborn screening for lysosomal storage disorders.

  2006cited by this paper
• A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease.

  2006cited by this paper

• Stability study of pharmacy compounded high-dose ambroxol hydrochloride capsules for an n-of-1 clinical trial involving Dutch patients with Gaucher disease type 3

  2026cites this paper
• Role of Biomarkers in Diagnosing Disease, Assessing the Severity and Progression of Disease, and Evaluating the Efficacy of Therapies

  2025cites this paper
• Natural history of inflammation and impaired autophagy in children with Gaucher disease identified by newborn screening

  2025cites this paper
• A Nationwide Survey Investigating the Current Status of Genetic Counseling in Newborn Screening in Japan

  2025cites this paper
• A multi-omics-empowered framework for precision diagnosis and treatment of lysosomal diseases

  2025cites this paper
• Emerging biomarkers in Gaucher disease.

  2025cites this paper
• Progressive Hand Stiffness and Numbness in a Child: An Atypical Neurological Presentation of Scheie Syndrome—A Case Report

  2025cites this paper
• Screening of biomarkers in autoimmune thyroid diseases (AITDs): preliminary study based on Raman spectroscopy and MALDI-ToF mass spectrometry.

  2025cites this paper
• A study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE)

  2025cites this paper
• Very First Application of Compact Benchtop NMR Spectrometers to Complex Biofluid Analysis and Metabolite Tracking for Future Metabolomics Studies: A Retrospective Decennial Report from November 2014

  2025cites this paper
• Predicting the phenotype of Pompe Disease from features of GAA variants

  2025cites this paper
• Effect of newborn genomic screening for lysosomal storage disorders: a cohort study in China

  2025cites this paper
• Lenmeldy (atidarsagene autotemcel) for individuals with early metachromatic leukodystrophy (MLD): A therapeutics bulletin of the American College of Medical Genetics and Genomics (ACMG)

  2025cites this paper
• Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK

  2024cites this paper
• Terra incognita of glial cell dynamics in the etiology of leukodystrophies: Broadening disease and therapeutic perspectives.

  2024cites this paper
• Newborn genetic screening for Fabry disease: Insights from a retrospective analysis in Nanjing, China.

  2024cites this paper
• Gaucher Disease: A Glance from a Medicinal Chemistry Perspective.

  2024cites this paper
• The burden of disease in metachromatic leukodystrophy: results of a caregiver survey in the UK and Republic of Ireland

  2024cites this paper
• Newborn Screening for 6 Lysosomal Storage Disorders in China

  2024cites this paper
• Transition of patients with Gaucher disease type 1 from pediatric to adult care: results from two international surveys of patients and health care professionals

  2024influential citation
• Newborn Screening for Acid Sphingomyelinase Deficiency: Prevalence and Genotypic Findings in Italy

  2024cites this paper
• Association between Neuroimaging Scores and Clinical Status in Pediatric Patients Diagnosed with Metachromatic Leukodystrophy

  2024cites this paper
• Relative Frequency of Metachromatic Leukodystrophy in Egypt: A Reference Laboratory Report.

  2024cites this paper
• The Importance of Early Treatment of Inherited Neuromuscular Conditions

  2024cites this paper
• Biomarker testing for lysosomal diseases: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

  2024cites this paper
• Commentary on A Patient with Coarse Facial Features and Molecular Odyssey: Lessons Learned and Best Practice.

  2023cites this paper
• Personalized precision medicine of strategic health action in Niemann-Pick type A/B disease: Case report

  2023cites this paper
• Newborn Screening for Fabry Disease: Current Status of Knowledge

  2023influential citation
• Development of a rare disease algorithm to identify persons at risk of Gaucher disease using electronic health records in the United States

  2023cites this paper
• Identification and structural characterization of a pathogenic ARSA missense variant in two consanguineous families from Jammu and Kashmir (India) with late infantile metachromatic leukodystrophy

  2023cites this paper
• Expert-opinion-based guidance for the care of children with lysosomal storage diseases during the COVID-19 pandemic: An experience-based Turkey perspective

  2023cites this paper
• Light and Shadows in Newborn Screening for Lysosomal Storage Disorders: Eight Years of Experience in Northeast Italy

  2023cites this paper
• Omics-Based Approaches for the Characterization of Pompe Disease Metabolic Phenotypes

  2023cites this paper
• Utility of morphologic assessment of bone marrow biopsy in diagnosis of lysosomal storage disorders

  2023cites this paper
• Newborn screening for Pompe disease in Italy: Long-term results and future challenges

  2022cites this paper
• Gene Therapy for Pediatric Neurologic Disease.

  2022cites this paper
• A kaleidoscopic view of extracellular vesicles in lysosomal storage disorders

  2022cites this paper
• The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland

  2022influential citation
• Lysosomal Storage Disease Associated with a CNP Sequence Variant in Dalmatian Dogs.

  2022cites this paper
• An observational study to investigate the relationship between plasma glucosylsphingosine (lyso-Gb1) concentration and treatment outcomes of patients with Gaucher disease in Japan

  2022cites this paper
• Influence of initial clinical suspicion on the diagnostic yield of laboratory enzymatic testing in lysosomal storage disorders. Experience from a multispecialty hospital.

  2022cites this paper
• Measurement of lysosomal enzyme activities: A technical standard of the American College of Medical Genetics and Genomics (ACMG).

  2022cites this paper
• Brazilian consensus recommendations for the diagnosis, screening, and treatment of individuals with fabry disease: Committee for Rare Diseases - Brazilian Society of Nephrology/2021

  2022cites this paper
• Implications of the First Ex Vivo Gene Therapy Approved for Treating Early-Onset Metachromatic Leukodystrophy

  2022cites this paper
• Newborn screening of mucopolysaccharidosis type I

  2022cites this paper
• Lysosomal storage disorders with neurological manifestations

  2022cites this paper
• Engineering antibody and protein therapeutics to cross the blood–brain barrier

  2022cites this paper
• Glycosphingolipids.

  2021cites this paper
• A Novel Mutation (p.Met1?) of a Cuban Patient in the NAGLU Gene with Mucopolysaccharidosis IIIB

  2021cites this paper
• Clinical Development of Cell Therapies to Halt Lysosomal Storage Diseases: Results and Lessons Learned.

  2021cites this paper
• Étude des mucopolysaccharidoses en France : constitution de la cohorte RaDiCo-MPS

  2021cites this paper
• Clinical, biochemical, and genotype‐phenotype correlations of 118 patients with Niemann‐Pick disease Types A/B

  2021cites this paper
• Journal of Inborn Errors of Metabolism & Screening

  2021cites this paper
• The Future of Newborn Screening for Lysosomal Disorders.

  2021cites this paper
• Progressive Ataxia and Neurologic Regression in RFXANK-Associated Bare Lymphocyte Syndrome

  2021cites this paper
• Recapture Lysosomal Enzyme Deficiency via Targeted Gene Disruption in the Human Near-Haploid Cell Line HAP1

  2021cites this paper
• Molecular Analysis of Vietnamese Patients with Mucopolysaccharidosis Type I

  2021cites this paper
• Apresentação pediátrica da doença de Fabry: sintomas comuns levando ao diagnóstico de uma doença rara

  2021cites this paper
• Lysosomal Storage Disorders

  2021cites this paper
• Diagnosis of Genetic and Metabolic Conditions

  2021cites this paper
• Loss of Function of Mutant IDS Due to Endoplasmic Reticulum-Associated Degradation: New Therapeutic Opportunities for Mucopolysaccharidosis Type II

  2021cites this paper
• Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications

  2021cites this paper
• Role of misfolding in rare enzymatic deficits and use of pharmacological chaperones as therapeutic approach.

  2021cites this paper
• Bone fragility in patients affected by congenital diseases non skeletal in origin

  2021cites this paper
• Niemann-Pick Disease on Bone Marrow Trephine: A Rare Manifestation

  2021cites this paper
• A click-flipped enzyme substrate boosts the performance of the diagnostic screening for Hunter syndrome

  2020cites this paper
• Cerebral vasculopathies

  2020cites this paper
• Systemic AAV9 gene therapy using the synapsin I promoter rescues a mouse model of neuronopathic Gaucher disease but with limited cross-correction potential to astrocytes

  2020cites this paper
• Mass spectrometry in clinical glycomics: The path from biomarker identification to clinical implementation

  2020cites this paper
• Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches

  2020cites this paper
• Treatable lysosomal storage diseases in the advent of disease‐specific therapy

  2020cites this paper
• Unmet needs in PKU and the disease impact on the day-to-day lives in Brazil: Results from a survey with 228 patients and their caregivers

  2020cites this paper
• Highlights on Genomics Applications for Lysosomal Storage Diseases

  2020cites this paper
• Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene

  2020cites this paper
• Kidney Transplant in Fabry Disease: A Revision of the Literature

  2020cites this paper
• First phenotypic description of a female patient with c.610 T > C variant of GLA: a renal-predominant presentation of Fabry disease

  2020cites this paper
• Screening of family members of chronic kidney disease patients with Fabry disease mutations: a very important and underrated task

  2020cites this paper
• Urodynamic and clinical studies in patients with late‐onset Pompe disease and lower urinary tract symptoms

  2020cites this paper
• Isolation and Characterization of Novel Degradation Products of Eliglustat Tartrate Using 2D-NMR and HRMS: Development and Validation of Stability Indicating RP-UPLC Method for Quantification of Assay and Characterized Impurities

  2020cites this paper
• Inherited metabolic disorders of glycoconjugate metabolism.

  2020cites this paper
• Multiplexed tandem mass spectrometry-based screening for five lysosomal storage disorders: A pilot study

  2020cites this paper
• Childhood Neurodegenerative Disorders

  2019cites this paper
• Emerging links between pediatric lysosomal storage diseases and adult parkinsonism

  2019cites this paper
• Sensitivity, advantages, limitations, and clinical utility of targeted next-generation sequencing panels for the diagnosis of selected lysosomal storage disorders

  2019cites this paper
• Gaucher Disease: New Expanded Classification Emphasizing Neurological Features

  2019cites this paper
• Current status and challenges for LSDs in Bangladesh

  2019cites this paper
• Coexistence of Gaucher Disease and severe congenital neutropenia.

  2019cites this paper
• Early initiation of enzyme replacement therapy in classical Fabry disease normalizes biomarkers in clinically asymptomatic pediatric patients

  2019cites this paper
• Enantiospecific UPC2 SFC-MS method for separation and quantification of R & S-Eliglustat tartrate in presence of its stereo isomers and degradation impurities

  2019cites this paper
• Practical management of lysosomal storage disorders (LSDs)

  2019cites this paper
• Oncogenic effects of germline variants in lysosomal storage disease genes

  2019cites this paper
• Identification of novel variation in introns three and four of the iduronate-2-sulfatase gene in patients with mucopolysaccharidosis type II

  2018cites this paper
• Oncogenic effects of germline mutations in lysosomal storage disease genes

  2018cites this paper
• Worldwide distribution of common IDUA pathogenic variants

  2018cites this paper
• Fabry disease revisited: Management and treatment recommendations for adult patients.

  2018cites this paper
• Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale

  2018cites this paper
• Children with type 1 Gaucher disease: Changing profiles in the 21st century.

  2018cites this paper
• Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders

  2018cites this paper
• Updates in Newborn Screening.

  2018cites this paper
• Understanding the Nurse ’ s Role in Managing Gaucher Disease

  2018cites this paper