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。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)
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)
Two Siblings With Interstitial Lung Disease
Sean Callahan et al.
CHEST (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)
Spleen size evaluation in children: Time to define splenomegaly for pediatric surgeons and pediatricians
Gloria Pelizzo et al.
PLOS ONE (2018)
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
Margaret M. McGovern et al.
GENETICS IN MEDICINE (2017)
Types A and B Niemann-Pick disease
Edward H. Schuchman et al.
MOLECULAR GENETICS AND METABOLISM (2017)
SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
Stefania Zampieri et al.
HUMAN MUTATION (2016)
Pulmonary Involvement in Niemann-Pick Disease: A State-of-the-Art Review
Felipe Mussi von Ranke et al.
LUNG (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)
Spleen Size Is Significantly Influenced by Body Height and Sex: Establishment of Normal Values for Spleen Size at US with a Cohort of 1200 Healthy Individuals
Kai Uwe Chow et al.
RADIOLOGY (2016)
Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening
Sandra D. K. Kingma et al.
BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM (2015)
Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency
Melissa P. Wasserstein et al.
MOLECULAR GENETICS AND METABOLISM (2015)
Morbidity and mortality in type B Niemann-Pick disease
Margaret M. McGovern et al.
GENETICS IN MEDICINE (2013)
Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases
Amy L. Barczykowski et al.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A (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)
A prospective, cross-sectional survey study of the natural history of Niemann-Pick disease type B
Margaret M. McGovern et al.
PEDIATRICS (2008)
Lung disease in Niemann-Pick disease
Nathalie Guillemot et al.
PEDIATRIC PULMONOLOGY (2007)
Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of NIEMANN-PICK disease
Melissa P. Wasserstein et al.
JOURNAL OF PEDIATRICS (2006)
The clinical and demographic characteristics of nonneuronopathic Gaucher disease in 887 children at diagnosis
Paige Kaplan et al.
ARCHIVES OF PEDIATRICS & ADOLESCENT MEDICINE (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)
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)
Spleen length in childhood with US: Normal values based on age, sex, and somatometric parameters
SD Megremis et al.
RADIOLOGY (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)
Therapeutic goals in the treatment of Gaucher disease
GM Pastores et al.
SEMINARS IN HEMATOLOGY (2004)
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)