Non-neuronopathic lysosomal storage disorders: Disease spectrum and treatments

Best Practice and Research: Clinical Endocrinology and Metabolism

Volumn 29, Issue 2, 2015, Pages 173-182

  Pastores, Gregory M ^a   Hughes, Derralynn A ^b  

^a MATER MISERICORDIAE UNIVERSITY HOSPITAL   (Ireland)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

Author keywords

cardiomyopathy; dysostosis multiplex; hepatosplenomegaly; lysosomal storage disorders

Indexed keywords

BODY DYSMORPHIC DISORDER; BONE DYSPLASIA; CARDIOMYOPATHY; CHERRY RED SPOT; DISEASE ASSOCIATION; ENZYME REPLACEMENT; FETUS HYDROPS; GENETIC COUNSELING; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEPATOSPLENOMEGALY; HUMAN; INTERSTITIAL LUNG DISEASE; KIDNEY FAILURE; LYSOSOME STORAGE DISEASE; NEXT GENERATION SEQUENCING; NON IMMUNE HYDROPS FETALIS; QUALITY OF LIFE; REVIEW; SUBSTRATE REDUCTION THERAPY; TANDEM MASS SPECTROMETRY; CARDIOMYOPATHIES; COMPLICATION; DYSOSTOSES; GENE THERAPY; HEPATOMEGALY; LYSOSOMAL STORAGE DISEASES; PHYSIOTHERAPY; RENAL INSUFFICIENCY; SPLENOMEGALY;

CARDIOMYOPATHIES; DYSOSTOSES; ENZYME REPLACEMENT THERAPY; GENETIC COUNSELING; GENETIC THERAPY; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEPATOMEGALY; HUMANS; LYSOSOMAL STORAGE DISEASES; PHYSICAL THERAPY MODALITIES; RENAL INSUFFICIENCY; SPLENOMEGALY;

EID: 84929508366     PISSN: 1521690X     EISSN: 15321908     Source Type: Journal    
DOI: 10.1016/j.beem.2014.08.005     Document Type: Review

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