Pompe disease: From new views on pathophysiology to innovative therapeutic strategies

Current Pharmaceutical Biotechnology

Volumn 12, Issue 6, 2011, Pages 902-915

  Parenti, Giancarlo ^a,b   Andria, Generoso ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

Glucosidase; Autophagy; Enzyme replacement therapy; Gene therapy; Glycogenosis type II; Pharmacologicalchaperone therapy; Pompe disease; Substrate reduction therapy

Indexed keywords

1 DEOXYNOJIRIMYCIN; ALANINE; ALPHA GLUCOSIDASE; CHAPERONE; DIPEPTIDYL CARBOXYPEPTIDASE; HYDROLASE ACID ALPHA GLUCOSIDASE; MIGLUSTAT; RECOMBINANT ENZYME; SOMATOMEDIN B RECEPTOR; UNCLASSIFIED DRUG;

ARTICLE; AUTOPHAGY; BIOCHEMISTRY; CARDIOMYOPATHY; CELL DAMAGE; CELL FUNCTION; CELL MIGRATION; CELL STRUCTURE; CELL VACUOLE; CELLULAR DISTRIBUTION; CLINICAL FEATURE; DIET THERAPY; DISEASE SEVERITY; DRUG EFFICACY; ELECTRON MICROSCOPY; ENDOPLASMIC RETICULUM; ENZYME ACTIVITY; ENZYME REPLACEMENT; ENZYME STABILITY; ENZYME THERAPY; GENE LOCATION; GENE MUTATION; GENE SEQUENCE; GENE THERAPY; GENETIC VARIABILITY; GLYCOGEN STORAGE DISEASE TYPE 2; HUMAN; IMMUNOHISTOCHEMISTRY; MISSENSE MUTATION; MUSCLE ATROPHY; MUSCLE CONTRACTILITY; MUSCLE DISEASE; MUSCLE WEAKNESS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; NUTRITION; PATHOPHYSIOLOGY; PHENOTYPE; PHYSIOTHERAPY; PROTEIN FOLDING; PROTEIN STABILITY; QUALITY CONTROL; SINGLE NUCLEOTIDE POLYMORPHISM; SUBSTRATE REDUCTION THERAPY;

ALPHA-GLUCOSIDASES; ANIMALS; ENZYME REPLACEMENT THERAPY; GENE THERAPY; GLYCOGEN STORAGE DISEASE TYPE II; HUMANS; MOLECULAR CHAPERONES; PHENOTYPE;

EID: 79956258451     PISSN: 13892010     EISSN: 18734316     Source Type: Journal    
DOI: 10.2174/138920111795542606     Document Type: Article

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