Related references
Note: Only part of the references are listed.Expanding the clinical utility of glucosylsphingosine for Gaucher disease
Jennifer T. Saville et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2020)
The critical role of psychosine in screening, diagnosis, and monitoring of Krabbe disease
Adam J. Guenzel et al.
GENETICS IN MEDICINE (2020)
A highly multiplexed biochemical assay for analytes in dried blood spots: application to newborn screening and diagnosis of lysosomal storage disorders and other inborn errors of metabolism
Xinying Hong et al.
GENETICS IN MEDICINE (2020)
Implementation of population-based newborn screening reveals low incidence of spinal muscular atrophy
Denise M. Kay et al.
GENETICS IN MEDICINE (2020)
Biomarkers for Lysosomal Storage Disorders with an Emphasis on Mass Spectrometry
Ryuichi Mashima et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Tandem Mass Spectrometry Enzyme Assays for Multiplex Detection of 10-Mucopolysaccharidoses in Dried Blood Spots and Fibroblasts
Hamid Khaledi et al.
ANALYTICAL CHEMISTRY (2020)
Toward newborn screening of cerebrotendinous xanthomatosis: results of a biomarker research study using 32,000 newborn dried blood spots
Xinying Hong et al.
GENETICS IN MEDICINE (2020)
The role of exome sequencing in newborn screening for inborn errors of metabolism
Aashish N. Adhikari et al.
NATURE MEDICINE (2020)
Highlights on Genomics Applications for Lysosomal Storage Diseases
Valentina La Cognata et al.
CELLS (2020)
The Impact of Post-Analytical Tools on New York Screening for Krabbe Disease and Pompe Disease
Monica M. Martin et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)
Evaluation of Multiple Methods for Quantification of Glycosaminoglycan Biomarkers in Newborn Dried Blood Spots from Patients with Severe and Attenuated Mucopolysaccharidosis-I
Zackary M. Herbst et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)
Current Practices for U.S. Newborn Screening of Pompe Disease and MPSI
Elizabeth G. Ames et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)
Newborn Screening for Mucopolysaccharidosis Type II in Illinois: An Update
Barbara K. Burton et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)
Incorporation of Second-Tier Biomarker Testing Improves the Specificity of Newborn Screening for Mucopolysaccharidosis Type I
Dawn S. Peck et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)
Two-Tiered Newborn Screening with Post-Analytical Tools for Pompe Disease and Mucopolysaccharidosis Type I Results in Performance Improvement and Future Direction
Patricia L. Hall et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)
Newborn Screening for Pompe Disease in Illinois: Experience with 684,290 Infants
Barbara K. Burton et al.
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2020)
The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants
Melissa P. Wasserstein et al.
GENETICS IN MEDICINE (2019)
Rethinking the open future argument against predictive genetic testing of children
Jeremy R. Garrett et al.
GENETICS IN MEDICINE (2019)
Clinical effectiveness of enzyme replacement therapy with galsulfase in mucopolysaccharidosis type VI treatment: Systematic review
Dalila Fernandes Gomes et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2019)
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease
Thomas J. Langan et al.
GENETICS IN MEDICINE (2019)
Moonlighting newborn screening markers: the incidental discovery of a second-tier test for Pompe disease
Silvia Tortorelli et al.
GENETICS IN MEDICINE (2018)
Precision newborn screening for lysosomal disorders
Melissa M. Minter Baerg et al.
GENETICS IN MEDICINE (2018)
Digital microfluidics comes of age: high-throughput screening to bedside diagnostic testing for genetic disorders in newborns
David Millington et al.
EXPERT REVIEW OF MOLECULAR DIAGNOSTICS (2018)
Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months
Melissa P. Wasserstein et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2018)
Study of Intraventricular Cerliponase Alfa for CLN2 Disease
Angela Schulz et al.
NEW ENGLAND JOURNAL OF MEDICINE (2018)
Status of newborn screening and follow up investigations for Mucopolysaccharidoses I and II in Taiwan
Chih-Kuang Chuang et al.
ORPHANET JOURNAL OF RARE DISEASES (2018)
The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency
Federica Deodato et al.
CLINICA CHIMICA ACTA (2018)
Newborn Screening for Lysosomal Disease: Mission Creep and a Taste of Things to Come?
Bridget Wilcken
INTERNATIONAL JOURNAL OF NEONATAL SCREENING (2018)
Newborn Screening for Lysosomal Storage Disorders in Illinois: The Initial 15-Month Experience
Barbara K. Burton et al.
JOURNAL OF PEDIATRICS (2017)
Newborn Sequencing in Genomic Medicine and Public Health
Jonathan S. Berg et al.
PEDIATRICS (2017)
Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases
L. Kuchar et al.
ANALYTICAL BIOCHEMISTRY (2017)
Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples
Zdenek Spacil et al.
CLINICAL CHEMISTRY (2016)
Clinical outcomes of children with abnormal newborn screening results for Krabbe disease in New York State
Melissa P. Wasserstein et al.
GENETICS IN MEDICINE (2016)
Clinical course of sly syndrome (mucopolysaccharidosis type VII)
Adriana M. Montano et al.
JOURNAL OF MEDICAL GENETICS (2016)
Expression of Individual Mutations and Haplotypes in the Galactocerebrosidase Gene Identified by the Newborn Screening Program in New York State and in Confirmed Cases of Krabbe's Disease
Carlos A. Saavedra-Matiz et al.
JOURNAL OF NEUROSCIENCE RESEARCH (2016)
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry
Susan Elliott et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Treatment of Fabry's Disease with the Pharmacologic Chaperone Migalastat
D. P. Germain et al.
NEW ENGLAND JOURNAL OF MEDICINE (2016)
Development of a bile acid-based newborn screen for Niemann-Pick disease type C
Xuntian Jiang et al.
SCIENCE TRANSLATIONAL MEDICINE (2016)
Evaluating Harms in the Assessment of Net Benefit: A Framework for Newborn Screening Condition Review
Aaron J. Goldenberg et al.
MATERNAL AND CHILD HEALTH JOURNAL (2016)
Lysosomal Storage Disorder Screening Implementation: Findings from the First Six Months of Full Population Pilot Testing in Missouri
Patrick V. Hopkins et al.
JOURNAL OF PEDIATRICS (2015)
Long-Term Prognosis of Patients with Infantile-Onset Pompe Disease Diagnosed by Newborn Screening and Treated since Birth
Yin-Hsiu Chien et al.
JOURNAL OF PEDIATRICS (2015)
A Phase 3 Trial of Sebelipase Alfa in Lysosomal Acid Lipase Deficiency
B. K. Burton et al.
NEW ENGLAND JOURNAL OF MEDICINE (2015)
Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report
Alexander A. Boucher et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Sanfilippo syndrome: Overall review
Fernando Andrade et al.
PEDIATRICS INTERNATIONAL (2015)
Detecting multiple lysosomal storage diseases by tandem mass spectrometry - A national newborn screening program in Taiwan
Hsuan-Chieh Liao et al.
CLINICA CHIMICA ACTA (2014)
Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomised placebo-controlled study
Christian J. Hendriksz et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2014)
First pilot newborn screening for four lysosomal storage diseases in an Italian region: Identification and analysis of a putative causative mutation in the GBA gene
Silvia Paciotti et al.
CLINICA CHIMICA ACTA (2012)
Later Onset Phenotypes of Krabbe Disease: Results of the World-Wide Registry
Patricia K. Duffner et al.
PEDIATRIC NEUROLOGY (2012)
Lysosomal storage diseases: Diagnostic confirmation and management of presymptomatic individuals
Raymond Y. Wang et al.
GENETICS IN MEDICINE (2011)
Early Infantile Krabbe Disease: Results of the World-Wide Krabbe Registry
Patricia K. Duffner et al.
PEDIATRIC NEUROLOGY (2011)
A Randomized Study of Alglucosidase Alfa in Late-Onset Pompe's Disease.
Ans T. van der Ploeg et al.
NEW ENGLAND JOURNAL OF MEDICINE (2010)
Niemann-Pick disease type C
Marie T. Vanier
ORPHANET JOURNAL OF RARE DISEASES (2010)
Patients-in-Waiting: Living between Sickness and Health in the Genomics Era
Stefan Timmermans et al.
JOURNAL OF HEALTH AND SOCIAL BEHAVIOR (2010)
Newborn Screening for Fabry Disease in Taiwan Reveals a High Incidence of the Later-Onset GLA Mutation c.936+919G > A (IVS4+919G > A)
Wuh-Liang Hwu et al.
HUMAN MUTATION (2009)
Newborn Screening for Krabbe Disease: the New York State Model
Patricia K. Duffner et al.
PEDIATRIC NEUROLOGY (2009)
Effects of enzyme replacement therapy on the cardiomyopathy of Anderson-Fabry disease: a randomised, double-blind, placebo-controlled clinical trial of agalsidase alfa
D. A. Hughes et al.
HEART (2008)
Early detection of Pompe disease by newborn screening is feasible: Results from the Taiwan screening program
Yin-Hsiu Chien et al.
PEDIATRICS (2008)
Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy
J. Edmond Wraith et al.
EUROPEAN JOURNAL OF PEDIATRICS (2008)
Sustained, long-term renal stabilization after 54 months of agalsidase β therapy in patients with Fabry disease
Dominique P. Germain et al.
JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY (2007)
Recombinant human acid α-glucosidase -: Major clinical benefits in infantile-onset Pompe disease
P. S. Kishnani et al.
NEUROLOGY (2007)
Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of NIEMANN-PICK disease
Melissa P. Wasserstein et al.
JOURNAL OF PEDIATRICS (2006)
High incidence of later-onset Fabry disease revealed by newborn screening
Marco Spada et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease
Priya S. Kishnani et al.
JOURNAL OF PEDIATRICS (2006)
Natural history of Fabry disease in females in the Fabry outcome survey
PB Deegan et al.
JOURNAL OF MEDICAL GENETICS (2006)
Ten years' experience of enzyme infusion therapy of Norrbottnian (type 3) Gaucher disease
A Erikson et al.
ACTA PAEDIATRICA (2006)
An open-label, noncomparative study of miglustat in type I Gaucher disease: Efficacy and tolerability over 24 months of treatment
GM Pastores et al.
CLINICAL THERAPEUTICS (2005)
Transplantation of umbilical-cord blood in babies with infantile Krabbe's disease
ML Escolar et al.
NEW ENGLAND JOURNAL OF MEDICINE (2005)
Effects of enzyme replacement therapy on pain and health related quality of life in patients with Fabry disease: data from FOS (Fabry Outcome Survey)
B Hoffmann et al.
JOURNAL OF MEDICAL GENETICS (2005)
Clinical and biochemical study of 28 patients with mucopolysaccharidosis type VI
ACMM Azevedo et al.
CLINICAL GENETICS (2004)
Direct multiplex assay of lysosomal enzymes in dried blood spots for newborn screening
YJ Li et al.
CLINICAL CHEMISTRY (2004)
Enzyme replacement and enhancement therapies for lysosomal diseases
RJ Desnick
JOURNAL OF INHERITED METABOLIC DISEASE (2004)
Fabry disease: Detection of undiagnosed hemodialysis patients and identification of a renal variant phenotype
S Nakao et al.
KIDNEY INTERNATIONAL (2003)
Familial adult onset of Krabbe's disease resembling hereditary spastic paraplegia with normal neuroimaging
NPS Bajaj et al.
JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2002)
Safety and efficacy of recombinant human α-galactosidase a replacement therapy in Fabry's disease.
CM Eng et al.
NEW ENGLAND JOURNAL OF MEDICINE (2001)
Enzyme replacement therapy in Fabry disease - A randomized controlled trial
R Schiffmann et al.
JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION (2001)
Fabry disease: enzymatic diagnosis in dried blood spots on filter paper
NA Chamoles et al.
CLINICA CHIMICA ACTA (2001)
Is there a case in favour of predictive genetic testing in young children?
S Robertson et al.
BIOETHICS (2001)