Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases
出版年份 2013 全文链接
标题
Factors and processes modulating phenotypes in neuronopathic lysosomal storage diseases
作者
关键词
Inherited metabolic diseases, Lysosomal storage diseases, Neuronopathic forms of heritable disorders, Genotype-phenotype correlations, Factors modulating disease severity
出版物
METABOLIC BRAIN DISEASE
Volume 29, Issue 1, Pages 1-8
出版商
Springer Nature
发表日期
2013-12-04
DOI
10.1007/s11011-013-9455-6
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。- Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder
- (2013) Frits A Wijburg et al. ACTA PAEDIATRICA
- Mucopolysaccharidosis type VI: A predominantly cardiac phenotype associated with homozygosity for p.R152W mutation in theARSBgene
- (2013) Agnieszka Jurecka et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- New Approaches to Molecular Diagnosis
- (2013) Bruce R. Korf et al. JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION
- Parkinson's Disease and Alpha Synuclein: Is Parkinson's Disease a Prion-Like Disorder?
- (2013) C. Warren Olanow et al. MOVEMENT DISORDERS
- Mucopolysaccharidosis type VI phenotypes-genotypes and antibody response to galsulfase
- (2013) Marion M Brands et al. Orphanet Journal of Rare Diseases
- The genotype-phenotype correlation in Pompe disease
- (2012) Marian Kroos et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Putative Biological Mechanisms of Efficiency of Substrate Reduction Therapies for Mucopolysaccharidoses
- (2012) Zyta Banecka-Majkutewicz et al. ARCHIVUM IMMUNOLOGIAE ET THERAPIAE EXPERIMENTALIS
- Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age
- (2012) F. Matthes et al. HUMAN MOLECULAR GENETICS
- A Genetic Model of Substrate Reduction Therapy for Mucopolysaccharidosis
- (2012) William C. Lamanna et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Lysosomal storage disorders: The cellular impact of lysosomal dysfunction
- (2012) Frances M. Platt et al. JOURNAL OF CELL BIOLOGY
- Database of the clinical phenotypes, genotypes and mutant arylsulfatase B structures in mucopolysaccharidosis type VI
- (2012) Seiji Saito et al. JOURNAL OF HUMAN GENETICS
- Mucopolysaccharidosis type I: current knowledge on its pathophysiological mechanisms
- (2012) Derbis Campos et al. METABOLIC BRAIN DISEASE
- Gaucher Disease Glucocerebrosidase and α-Synuclein Form a Bidirectional Pathogenic Loop in Synucleinopathies
- (2011) Joseph R. Mazzulli et al. CELL
- Mucopolysaccharidosis type I: molecular characteristics of two novel alpha-L-iduronidase mutations in Tunisian patients
- (2011) Latifa Chkioua et al. Diagnostic Pathology
- Combination therapies for lysosomal storage disease: is the whole greater than the sum of its parts?
- (2011) J. A. Hawkins-Salsbury et al. HUMAN MOLECULAR GENETICS
- The cellular pathology of lysosomal diseases
- (2011) Timothy M Cox et al. JOURNAL OF PATHOLOGY
- Mucopolysaccharidosis Type VI (Maroteaux–Lamy syndrome) with a predominantly cardiac phenotype
- (2011) Agnieszka Jurecka et al. MOLECULAR GENETICS AND METABOLISM
- Overview of the mucopolysaccharidoses
- (2011) J. Muenzer RHEUMATOLOGY
- Clarifying lysosomal storage diseases
- (2011) Mark L. Schultz et al. TRENDS IN NEUROSCIENCES
- A monozygotic twin pair with highly discordant Gaucher phenotypes
- (2010) M. Biegstraaten et al. BLOOD CELLS MOLECULES AND DISEASES
- Common and Uncommon Pathogenic Cascades in Lysosomal Storage Diseases
- (2010) Einat B. Vitner et al. JOURNAL OF BIOLOGICAL CHEMISTRY
- Clinical aspects of neuropathic lysosomal storage disorders
- (2010) Laura Bannach Jardim et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Pathophysiology of neuropathic lysosomal storage disorders
- (2010) Cinzia Maria Bellettato et al. JOURNAL OF INHERITED METABOLIC DISEASE
- Why are behaviors of children suffering from various neuronopathic types of mucopolysaccharidoses different?
- (2010) Grzegorz Węgrzyn et al. MEDICAL HYPOTHESES
- Pathology and Current Treatment of Neurodegenerative Sphingolipidoses
- (2010) Matthias Eckhardt NEUROMOLECULAR MEDICINE
- Mucopolysaccharidosis VI
- (2010) Vassili Valayannopoulos et al. Orphanet Journal of Rare Diseases
- Lysosomal Storage Disease: Revealing Lysosomal Function and Physiology
- (2010) Emma J. Parkinson-Lawrence et al. PHYSIOLOGY
- Genistein Improves Neuropathology and Corrects Behaviour in a Mouse Model of Neurodegenerative Metabolic Disease
- (2010) Marcelina Malinowska et al. PLoS One
- The epidemiology of progressive intellectual and neurological deterioration in childhood
- (2009) C. Verity et al. ARCHIVES OF DISEASE IN CHILDHOOD
- Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice
- (2009) Marcelina Malinowska et al. MOLECULAR GENETICS AND METABOLISM
- Correlation between severity of mucopolysaccharidoses and combination of the residual enzyme activity and efficiency of glycosaminoglycan synthesis
- (2008) Ewa Piotrowska et al. ACTA PAEDIATRICA
- Lysosomal disorders: From storage to cellular damage
- (2008) Andrea Ballabio et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Sanfilippo syndrome: A mini-review
- (2008) M. J. Valstar et al. JOURNAL OF INHERITED METABOLIC DISEASE
Become a Peeref-certified reviewer
The Peeref Institute provides free reviewer training that teaches the core competencies of the academic peer review process.
Get StartedAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started