Pompe's Disease Publications Over the last several years there have been numerous papers published on the subject of Pompe disease and Pompe disease research. The following is a partial list (in chronological order) of these publications. 1936 -- J.C. Pompe's Thesis: Cardiomegalia Glycogenica
1997 -- Dietary treatment in late-onset acid maltase deficiency (European Journal of Pediatrics, 1997)
July 2000 -- Recombinant human alpha-glucosidase from rabbit milk in Pompe patients (Lancet, July 2000) October 2000 -- Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation (Neurology, October 2000) March 2001 -- Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen stroage disease type II: results of a phase I/II clinical trial (Genetics in Medicine, March 2001) April 2001 -- Enzyme therapy for pompe disease with recombinant human alpha-glucosidase from rabbit milk (Journal of Inherited Metabolic Disorders, April 2001) August 2002 -- Enzyme therapy for Pompe disease: from science to industrial enterprise (European Journal of Pediatrics, 2002) June 2003 -- Morphological changes in muscle tissue of patients with infantile Pompe's disease receiving enzyme replacement therapy (Muscle and Nerve, June 2003) August 2003 -- The Natural Course of Infantile Pompe’s Disease: 20 Original Cases Compared With 133 Cases From the Literature (Pediatrics, August 2003) October 2003 -- Correction/mutation of acid a-D-glucosidase gene by modified single-stranded oligonucleotides: in vitro and in vivo studies (Gene Therapy, October 2003) March 2004 -- Virus Vector Delivery to Murine Diaphragm (Gene Therapy for Pompe's Disease a.o.)(Molecular Therapy, March 2004)
March 2004 -- Rescue of enzyme deficiency in embryonic diaphragm in a mouse model of metabolic myopathy: Pompe disease (Development, March 2004)
April 2004 -- Enzyme Replacement Therapy in Late-Onset Pompe ’s Disease: A Three-Year Follow-up (Annals of Neurology, April 2004)
May 2004 -- Long-Term Intravenous Treatment of Pompe Disease With Recombinant Human Alpha-Glucosidase From Milk (Pediatrics, May 2004)
May 2004 -- Pompe’s Disease. World Succes with a Setback: Laborious Production of the Medicine (Erasmus Monitor, April/May 2004)
June 2004 --A case of childhood Pompe disease demonstrating phenotypic variability of p.Asp645Asn (Neuromuscular Disorders, June 2004) August 2004 -- Lipoprotein Receptor Binding, Cellular Uptake, and Lysosomal Delivery of Fusions between the Receptor-associated Protein (RAP) and a-L-Iduronidase or Acid a-Glucosidase (Journal of Biological Chemistry, August 2004)
September 2004 -- Enhanced tissue delivery of acid alpha-glucosidase (Journal of Biological Chemistry, September 2004)
October 2004 -- Glycogen storage in multiple muscles of old GSD-II mice can be rapidly cleared after a single intravenous injection with a modified adenoviral vector expressing hGAA (Genetics in Medicine, October 2004) October 2004 -- Nephrotic Syndrome Complicating alpha-Glucosidase Replacement Therapy for Pompe Disease (Pediatrics, October 2004) November 2004 -- Improved efficacy of gene therapy approaches for Pompe disease using a new, immune-deficient GSD-II mouse model (Gene Therapy, November 2004) Novmber 2004 -- Late-onset Pompe disease primarily affects quality of life in physical health domains (Annals of Neurology, November 2004)
Novmber 2004 -- Conjugation of Mannose 6-Phosphate-containing Oligosaccharides to Acid a-Glucosidase Improves the Clearance of Glycogen in Pompe Mice (Journal of Biological Chemistry, November 2994) January 2005 -- Efficacy of an Adeno-associated Virus 8-Pseudotyped Vector in Glycogen Storage Disease Type II (Molecular Therapy, January 2005)
January 2005 -- Clinical manifestation and natural course of late-onset Pompe's disease in 54 Dutch patients (Brain: A Journal of Neurology, January 2005)
January 2005 -- Impact of Humoral Immune Response on Distribution and Efficacy of Recombinant Adeno-Associated Virus-Derived Acid a-Glucosidase in a Model of Glycogen Storage Disease Type II (Human Gene Therapy, January 2005)
March 2005 -- Muscle-Targeted Gene Therapy Reverses Rare Muscular Dystrophy in Mice (Molecular Therapy, March 2005) April 2005 -- Carbohydrate-remodeled acid a-glucosidase with higher affinity for the cation-independent mannose 6-phosphate receptor demonstrates improved delivery to muscles of Pompe mice (Biochemical Journal Immediate Publication, April 2005)
April 2005 -- Sustained correction of glycogen storage disease type II using adeno-associated virus serotype I vectors (Gene Therapy, April 2005)
June 2005 -- Disease severity in children and adults with Pompe disease related to age and disease duration (Neurology, June 2005)
June 2005 -- Correction of Glycogen Storage Disease Type II by an Adeno-associated Virus Vector Containing a Muscle-Specific Promoter (Molecular Therapy, June 2005)
July 2005 -- Evasion of Immune Responses to Introduced Human Acid alpha-Glucosidase by Liver-Restricted Expression in Glycogen Storage Disease Type II (Molecular Therapy, July 2005)
2006 -- Characterization of pre- and post-treatment pathology after enzyme replacement therapy for pompe disease (Laboratory Investigations, 2006)
April 2006 -- Dysfunction of Endocytic and Autophagic Pathways in a Lysosomal Storage Disease (Annals of Neurology, April 2006)
August 2006 -- Autophagy and Mistargeting of Therapeutic Enzyme in Skeletal Muscle in Pompe Disease (Molecular Therapy, August 2006)
September 2006 -- Chemical chaperones inprove transport and enhance stability of mutant a-glucosidases in glycogen storage disease type II (Molecular Genetics and Metabolism, Spetember 2006)
September 2006 -- Hyaluronidase increases the biodistribution of acid a-14, glucosidase in the muscle of Pompe disease mice: An approach to enhance the efficacy of enzyme replacement therapy (Biochemical and Biophysical Research Communications, September 2006)
Related Articles March 2004 -- Glycosylation-independent targeting enhances enzyme delivery to lysosomes and decreases storage in mucopolysaccharidosis type VII mice (Proceedings of the National Academy of Sciences of the United States of America, March 2004)
August 2004 -- Developmentally regulated mannose 6-phosphate receptor-mediated transtransport of a lysosomal enzyme across the blood-brain barrier (Proceedings of the National Academy of Sciences of the United States of America, August 2004) January 2007 -- Successful induction of immune tolerance to enzyme replacement therapy in canine mucopolysaccharidosis I (Proceedings of the National Academy of Sciences of the United States of America, January 2007) |
