Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
出版年份 2021 全文链接
标题
Prospective study of the natural history of chronic acid sphingomyelinase deficiency in children and adults: eleven years of observation
作者
关键词
-
出版物
Orphanet Journal of Rare Diseases
Volume 16, Issue 1, Pages -
出版商
Springer Science and Business Media LLC
发表日期
2021-05-10
DOI
10.1186/s13023-021-01842-0
参考文献
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
- (2021) George A. Diaz et al. GENETICS IN MEDICINE
- Chronic visceral acid sphingomyelinase deficiency (Niemann-Pick disease type B) in 16 Polish patients: long-term follow-up
- (2019) Patryk Lipiński et al. Orphanet Journal of Rare Diseases
- Two Siblings With Interstitial Lung Disease
- (2018) Sean Callahan et al. CHEST
- Olipudase alfa for treatment of acid sphingomyelinase deficiency (ASMD): safety and efficacy in adults treated for 30 months
- (2018) Melissa P. Wasserstein et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Spleen size evaluation in children: Time to define splenomegaly for pediatric surgeons and pediatricians
- (2018) Gloria Pelizzo et al. PLoS One
- Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
- (2017) Margaret M. McGovern et al. GENETICS IN MEDICINE
- Niemann-Pick disease type B: HRCT assessment of pulmonary involvement
- (2017) Heloisa Maria Pereira Freitas et al. Jornal Brasileiro de Pneumologia
- Types A and B Niemann-Pick disease
- (2017) Edward H. Schuchman et al. MOLECULAR GENETICS AND METABOLISM
- Pulmonary Involvement in Niemann–Pick Disease: A State-of-the-Art Review
- (2016) Felipe Mussi von Ranke et al. LUNG
- 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
- (2016) David Cassiman et al. MOLECULAR GENETICS AND METABOLISM
- 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
- (2016) Kai Uwe Chow et al. RADIOLOGY
- Epidemiology and diagnosis of lysosomal storage disorders; challenges of screening
- (2015) Sandra D.K. Kingma et al. BEST PRACTICE & RESEARCH CLINICAL ENDOCRINOLOGY & METABOLISM
- SMPD1 Mutation Update: Database and Comprehensive Analysis of Published and Novel Variants
- (2015) Stefania Zampieri et al. HUMAN MUTATION
- Successful within-patient dose escalation of olipudase alfa in acid sphingomyelinase deficiency
- (2015) Melissa P. Wasserstein et al. MOLECULAR GENETICS AND METABOLISM
- Morbidity and mortality in type B Niemann–Pick disease
- (2013) Margaret M. McGovern et al. GENETICS IN MEDICINE
- Death rates in the U.S. due to Krabbe disease and related leukodystrophy and lysosomal storage diseases
- (2012) Amy L. Barczykowski et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- Acid sphingomyelinase (Asm) deficiency patients in The Netherlands and Belgium: Disease spectrum and natural course in attenuated patients
- (2012) C.E.M. Hollak et al. MOLECULAR GENETICS AND METABOLISM
- A Prospective, Cross-sectional Survey Study of the Natural History of Niemann-Pick Disease Type B
- (2008) M. M. McGovern et al. PEDIATRICS
Create your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create NowBecome a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get Started