相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。Enzyme replacement therapy for children with acid sphingomyelinase deficiency in the real world: A single center experience in Taiwan
Yu-Wen Pan et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2023)
Acid Sphingomyelinase Deficiency: Sharing Experience of Disease Monitoring and Severity in France
Wladimir Mauhin et al.
JOURNAL OF CLINICAL MEDICINE (2022)
A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results
Melissa Wasserstein et al.
GENETICS IN MEDICINE (2022)
Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1
A. Dardis et al.
ORPHANET JOURNAL OF RARE DISEASES (2022)
Quantification of lysosphingomyelin and lysosphingomyelin-509 for the screening of acid sphingomyelinase deficiency
Francyne Kubaski et al.
ORPHANET JOURNAL OF RARE DISEASES (2022)
Long-term safety and clinical outcomes of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency: two-year results
George A. Diaz et al.
ORPHANET JOURNAL OF RARE DISEASES (2022)
Prevalence of lysosomal storage disorders in Australia from 2009 to 2020
Sharon J. Chin et al.
LANCET REGIONAL HEALTH-WESTERN PACIFIC (2022)
Acid Sphingomyelinase Deficiency: A Clinical and Immunological Perspective
Carolina Pinto et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Clinical, biochemical, and genotype-phenotype correlations of 118 patients with Niemann-Pick disease Types A/B
Jiayue Hu et al.
HUMAN MUTATION (2021)
Impact and burden of acid sphingomyelinase deficiency from a patient and caregiver perspective
Robin Pokrzywinski et al.
SCIENTIFIC REPORTS (2021)
One-year results of a clinical trial of olipudase alfa enzyme replacement therapy in pediatric patients with acid sphingomyelinase deficiency
George A. Diaz et al.
GENETICS IN MEDICINE (2021)
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
Margaret M. McGovern et al.
ORPHANET JOURNAL OF RARE DISEASES (2021)
Interstitial lung disease in lysosomal storage disorders
Raphael Borie et al.
EUROPEAN RESPIRATORY REVIEW (2021)
Design and Validation of a Custom NGS Panel Targeting a Set of Lysosomal Storage Diseases Candidate for NBS Applications
Valentina La Cognata et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2021)
Plasma lyso-sphingomyelin levels are positively associated with clinical severity in acid sphingomyelinase deficiency
Margo Sheck Breilyn et al.
MOLECULAR GENETICS AND METABOLISM REPORTS (2021)
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders
Alessandra Zanetti et al.
JOURNAL OF MOLECULAR DIAGNOSTICS (2020)
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
Rohini Sidhu et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Mechanism of Secondary Ganglioside and Lipid Accumulation in Lysosomal Disease
Bernadette Breiden et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2020)
Development of a Diagnostic Screening Strategy for Niemann Pick Diseases Based on Simultaneous Liquid Chromatography-Tandem Mass Spectrometry Analyses of N-Palmitoyl-O-phosphocholine-serine and Sphingosylphosphorylcholine
Anna Iwahori et al.
BIOLOGICAL & PHARMACEUTICAL BULLETIN (2020)
Long-term efficacy of olipudase alfa in adults with acid sphingomyelinase deficiency (ASMD): Further clearance of hepatic sphingomyelin is associated with additional improvements in pro- and anti-atherogenic lipid profiles after 42 months of treatment
Beth L. Thurberg et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Clinical relevance of endpoints in clinical trials for acid sphingomyelinase deficiency enzyme replacement therapy
Simon A. Jones et al.
MOLECULAR GENETICS AND METABOLISM (2020)
Application of a glycinated bile acid biomarker fordiagnosisand assessment of response to treatment in Niemann-pick disease type C1
Rohini Sidhu et al.
MOLECULAR GENETICS AND METABOLISM (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)
The Effects of Liver Transplantation in Children With Niemann-Pick Disease Type B
Yuan Liu et al.
LIVER TRANSPLANTATION (2019)
Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up
Patryk Lipinski et al.
ORPHANET JOURNAL OF RARE DISEASES (2019)
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study
Giulia Polo et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2019)
N-acyl-O-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease
Rohini Sidhu et al.
JOURNAL OF LIPID RESEARCH (2019)
Structural Determination of Lysosphingomyelin-509 and Discovery of Novel Class Lipids from Patients with Niemann-Pick Disease Type C
Masamitsu Maekawa et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases
Paola Faverio et al.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES (2019)
Lung transplantation in a patient with Niemann-Pick disease
Hannah Mannem et al.
JOURNAL OF HEART AND LUNG TRANSPLANTATION (2019)
Successful lung transplantation in a patient with Niemann-Pick disease
Feihong Ding et al.
JOURNAL OF HEART AND LUNG TRANSPLANTATION (2019)
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
Melissa Wasserstein et al.
MOLECULAR GENETICS AND METABOLISM (2019)
ClinVar: improving access to variant interpretations and supporting evidence
Melissa J. Landrum et al.
NUCLEIC ACIDS RESEARCH (2018)
Contribution of tandem mass spectrometry to the diagnosis of lysosomal storage disorders
Monique Piraud et al.
JOURNAL OF INHERITED METABOLIC DISEASE (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)
Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature
M. Voorink-Moret et al.
MOLECULAR GENETICS AND METABOLISM (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)
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
Margaret M. McGovern et al.
GENETICS IN MEDICINE (2017)
Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)
Margaret M. McGovern et al.
ORPHANET JOURNAL OF RARE DISEASES (2017)
Acid sphingomyelinase deficiency (Niemann-Pick disease type B) in adulthood: A retrospective multicentric study of 28 adult cases
O. Lidove et al.
REVUE DE MEDECINE INTERNE (2017)
LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease
Magali Pettazzoni et al.
PLOS ONE (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)
Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS
Giulia Polo et al.
CLINICAL CHEMISTRY AND LABORATORY MEDICINE (2017)
Epidemiological, clinical and biochemical characterization of the p.(Ala359Asp) SMPD1 variant causing Niemann-Pick disease type B
Mariana Acuna et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2016)
Novel first-dose adverse drug reactions during a phase I trial of olipudase alfa (recombinant human acid sphingomyelinase) in adults with Niemann-Pick disease type B (acid sphingomyelinase deficiency)
Margaret M. McGovern et al.
GENETICS IN MEDICINE (2016)
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
Stefania Zampieri et al.
HUMAN MUTATION (2016)
Spectrum of SMPD1 mutations in Asian-Indian patients with acid sphingomyelinase (ASM)-deficient Niemann-Pick disease
Prajnya Ranganath et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)
Clearance of Hepatic Sphingomyelin by Olipudase Alfa Is Associated With Improvement in Lipid Profiles in Acid Sphingomyelinase Deficiency
Beth L. Thurberg et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2016)
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations
Milena Romanello et al.
CLINICA CHIMICA ACTA (2016)
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases
David Cassiman et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review
Marie T. Vanier et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry
Susan Elliott et al.
MOLECULAR GENETICS AND METABOLISM (2016)
Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry
Susan Elliott et al.
DATA IN BRIEF (2016)
Types A and B Niemann-Pick disease
Edward H. Schuchman et al.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases
Glynis Klinke et al.
CLINICAL BIOCHEMISTRY (2015)
Reliable Assay of Acid Sphingomyelinase Deficiency with the Mutation Q292K by Tandem Mass Spectrometry
Farideh Ghomashchi et al.
CLINICAL CHEMISTRY (2015)
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
Sue Richards et al.
GENETICS IN MEDICINE (2015)
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency
Melissa P. Wasserstein et al.
MOLECULAR GENETICS AND METABOLISM (2015)
High quality, patient centred and coordinated care for Alstrom syndrome: a model of care for an ultra-rare disease
Stephanie Van Groenendael et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
A novel, highly sensitive and specific biomarker for Niemann-Pick type C1 disease
Anne-Katrin Giese et al.
ORPHANET JOURNAL OF RARE DISEASES (2015)
Increased Levels of Sphingosylphosphorylcholine (SPC) in Plasma of Metabolic Syndrome Patients
Nahed El-Najjar et al.
PLOS ONE (2015)
Liver Transplantation in Patients With Niemann-Pick Disease - Single-Center Experience
G. R. Coelho et al.
TRANSPLANTATION PROCEEDINGS (2015)
Newborn Screening for Lysosomal Storage Diseases
Michael H. Gelb et al.
CLINICAL CHEMISTRY (2015)
Epidemiology of lysosomal storage diseases in Sweden
Malin Hult et al.
ACTA PAEDIATRICA (2014)
Plasma Lysosphingomyelin Demonstrates Great Potential as a Diagnostic Biomarker for Niemann-Pick Disease Type C in a Retrospective Study
Richard W. D. Welford et al.
PLOS ONE (2014)
Analysis of the sphingomyelin phosphodiesterase 1 gene (SMPD1) in Turkish Niemann-Pick disease patients: Mutation profile and description of a novel mutation
A. Aykut et al.
GENE (2013)
Morbidity and mortality in type B Niemann-Pick disease
Margaret M. McGovern et al.
GENETICS IN MEDICINE (2013)
Skeletal manifestations in pediatric and adult patients with Niemann Pick disease type B
Melissa Wasserstein et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2013)
Identification of a distinct mutation spectrum in the SMPD1 gene of Chinese patients with acid sphingomyelinase-deficient Niemann-Pick disease
Huiwen Zhang et al.
ORPHANET JOURNAL OF RARE DISEASES (2013)
Liver and Skin Histopathology in Adults With Acid Sphingomyelinase Deficiency (Niemann-Pick Disease Type B)
Beth L. Thurberg et al.
AMERICAN JOURNAL OF SURGICAL PATHOLOGY (2012)
Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients
C. E. M. Hollak et al.
MOLECULAR GENETICS AND METABOLISM (2012)
The effect of preparation, storage and shipping of dried blood spots on the activity of five lysosomal enzymes
Carole S. Elbin et al.
CLINICA CHIMICA ACTA (2011)
AGREE II: advancing guideline development, reporting and evaluation in health care
Melissa C. Brouwers et al.
CANADIAN MEDICAL ASSOCIATION JOURNAL (2010)
Biochemical studies in Niemann-Pick disease. III: In vitro and in vivo assays of sphingomyelin degradation in cultured skin fibroblasts and amniotic fluid cells for the diagnosis of the various forms of the disease
Marie T. Vanier et al.
CLINICAL GENETICS (2010)
The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations
Helena Poupetova et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2010)
Cholesterol Oxidation Products Are Sensitive and Specific Blood-Based Biomarkers for Niemann-Pick C1 Disease
Forbes D. Porter et al.
SCIENCE TRANSLATIONAL MEDICINE (2010)
Psychosocial Aspects of Patients With Niemann-Pick Disease, Type B
Shelly L. Henderson et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2009)
Secondary lipid accumulation in lysosomal disease
Steven U. Walkley et al.
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH (2009)
Identification and Characterization of SMPD1 Mutations Causing Niemann-Pick Types A and B in Spanish Patients
Laura Rodriguez-Pascau et al.
HUMAN MUTATION (2009)
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B
Margaret M. McGovern et al.
PEDIATRICS (2008)
The pathogenesis and treatment of acid sphingomyelinase-deficient Niemann-Pick disease
E. H. Schuchman
JOURNAL OF INHERITED METABOLIC DISEASE (2007)
Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of NIEMANN-PICK disease
Melissa P. Wasserstein et al.
JOURNAL OF PEDIATRICS (2006)
Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C
Markus Ries et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2006)
Imprinting at the SMPD1 locus:: Implications for acid sphingomyelinase-deficient Niemann-Pick disease
CM Simonaro et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2006)
Natural history of type a Niemann-Pick disease - Possible endpoints for therapeutic trials
MM McGovern et al.
NEUROLOGY (2006)
Type B Niemann-Pick disease: Findings at chest radiography, thin-section CT, and pulmonary function testing
DS Mendelson et al.
RADIOLOGY (2006)
Early pulmonary involvement in Niemann-Pick type B disease:: Lung lavage is not useful
ZS Uyan et al.
PEDIATRIC PULMONOLOGY (2005)
A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate
OP van Diggelen et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Acid sphingomyelinase deficiency. Phenotype variability with prevalence of intermediate phenotype in a series of twenty-five Czech and Slovak patients. A multi-approach study
H Pavlu-Pereira et al.
JOURNAL OF INHERITED METABOLIC DISEASE (2005)
Prevalence of lysosomal storage diseases in Portugal
R Pinto et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2004)
The natural history of type B Niemann-Pick disease: Results from a 10-year longitudinal study
MP Wasserstein et al.
PEDIATRICS (2004)
Lipid abnormalities in children with types A and B Niemann Pick disease
MM McGovern et al.
JOURNAL OF PEDIATRICS (2004)
Human gene mutation database (HGMD®):: 2003 update
PD Stenson et al.
HUMAN MUTATION (2003)
The demographics and distribution of type B Niemann-Pick disease: Novel mutations lead to new genotype/phenotype correlations
CM Simonaro et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2002)
Niemann-Pick disease type B: An unusual clinical presentation with multiple vertebral fractures
P Volders et al.
AMERICAN JOURNAL OF MEDICAL GENETICS (2002)
Successful treatment of endogenous lipoid pneumonia due to Niemann-Pick type B disease with whole-lung lavage
AG Nicholson et al.
AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE (2002)
Nomenclature for the description of human sequence variations
JT den Dunnen et al.
HUMAN GENETICS (2001)
Identification of HE1 as the second gene of Niemann-Pick C disease
S Naureckiene et al.
SCIENCE (2000)