Las Glucogenosis en España: Situación Actual y Guías Informativas

Pathogenetics; 1 (1): 6.

[75] Matalon R et al (2006) "Hyaluronidase increases the biodistribution of acid

alpha-1,4 glucosidase in the muscle of Pompe disease mice: An approach to en-
hance the efficacy of enzyme replacement therapy", Biochemical and Biophysical
Research Communications; 350 (3): 783-787.

[76| Bijvoet AG et al (1998) "Recombinant human acid glucosidase: high level

production in mouse milk, biochemical characteristics, and correction of enzyme
deficiency in GSDII KO mice". Human Molecular Genetics; 7: 1815 -1824.

[771 Bijvoet AG et al ( 1999) "Human acid glucosidase from rabbit milk has ther-

apeutic effect in mice with glycogen storage disease type II", Human Molecular
Genetics; 8: 2145-2153.

[78] Kikuchi T (1998) "Clinical and metabolic correction of Pompe disease by

enzyme therapy in acid maltase-deficient quail", Journal of Clinical Investiga-
tion; 101:827-833.

[79] Raben N et al (2002) "Glycogen stored in skeletal but not in cardiac muscle

in acid glucosidase mutant (Pompe) mice is highly resistant to transgene-encoded
human enzyme", Molecular Therapy;.6 (5): 601-608.

[80] Raben N et al (2003) "Enzyme replacement therapy in the mouse model of

Pompe disease". Molecular Genetics and Metabolism; 80: 159-169.

159

Las Glucogenosis en España

[81 ] Hunley T et al (2003) "Nephrotic syndrome complicating recombinant human

acid alpha glucosidase (rhgaa) replacement therapy in a patient with infantile
Pompe disease". Proceedings of the 2003 American College of Medical Genetics
Meeting.

[82] Martini C et al (2001) "Intractable fever and cortical neuronal glycogen stor-

age in glycogenosis type 2", Neurology; 57 (5): 906-908.

[83] Skrinar A et al (2004) "Mental development in patients with Infantile Onset

Pompe Disease (IOPD) treated with Enzyme Replacement Therapy (ERT)", Pro-
ceedings of the 2004 Annual Symposium on Lysosomal Storage Disorders.

[84] Chien YH et al (2006) "Brain development in infantile-onset Pompe disease

treated by enzyme replacement therapy", .Pediatric Research; 60 (3): 349-352.

[85] Kamphoven J et al (2004) "Hearing loss in infantile Pompe 's disease and deter-

mination of underlying pathology in the knockout mouse", Neurobiology of Disease;
16(1): 14-20.

[86] Amalfitano A et al (1999) "Systemic correction of the muscle disorder glyco-

gen storage disease type II after hepatic targeting of a modified adenovirus vec-
tor encoding human acid-alpha-glucosidase", Proceedings of the National
Academic of Science USA; 96 (16): 8861-8866.

[87] Pauly DF et al (2001) "Intercellular transfer of the virally derived precursor

form of acid alpha-glucosidase corrects the enzyme deficiency in inherited car-
dioskeletal myopathy Pompe disease", Human Gene Therapy; 12 (5): 527-38.

[88] Ding E et al (2001) "Long term efficacy after [El-,polymerase-] adenovirus

mediated transfer of the human acid-? -glucosidase gene into GSD-1I knockout
mice". Human Gene Therapy; 12: 955-965.

[89] Ding E et al (2002) "Efficacy of gene therapy for a prototypical lysosomal

storage disease (GSD-II) is critically dependent on vector dose, transgene pro-
moter, and the tissues targeted for vector transduction", Molecular Therapy; 5 (4):
436-46.

[90] Xu F et al (2004) "Improved efficacy of gene therapy approaches for Pompe

disease using a new, immune-deficient GSD-II mouse model", Gene Therapy; 11
(21): 1590-1598.

160

Las Glucogenosis en España

[91] Xu F et al (2005) "Glycogen storage in multiple muscles of old GSD-II mice

can be rapidly cleared after a single intravenous injection with a modified aden-

oviral

vector expressing hGAA", Journal of Gene Medicine; 7 (2): 171-178.

[92] Sun B et al (2005) "Efficacy of an adeno-associated virus 8-pseudotyped vec-

tor in glycogen storage disease type II", Molecular Therapy;11 (1): 57-65.

[93] Cresawn KO et al (2005) "Impact of humoral immune response on distribu-

tion and efficacy of recombinant adeno-associated virus-derived acid alpha-glu-
cosidase in a model of glycogen storage disease type II", Human Gene Therapy;16
(1): 68-80.

[94| Sun B et al (2005) "Correction of glycogen storage disease type II by an

adeno-associated virus vector containing a muscle-specific promoter", Molecu-
lar Therapy; 11 (6): 889-898.

[95] Franco LM et al (2005) "Evasion of immune responses to introduced human

acid alpha-glucosidase by liver-restricted expression in glycogen storage disease
type II". Molecular Therapy; 12 (5): 876-884.

1961 Kiang A et al (2006) "Fully deleted adenovirus persistently expressing GAA

accomplishes long-term skeletal muscle glycogen correction in tolerant and non-
tolerant GSD-II mice". Molecular Therapy; 13 (1): 127-134.

[97] Sun B et al (2006) "Enhanced efficacy of an AAV vector encoding chimeric,

highly secreted acid alpha-glucosidase in glycogen storage disease type II", Mo-
lecular Therapy; 14 (6): 822-830

|98[ Ziegler RJ et al (2008) "Ability of adeno-associated virus serotype 8-medi-

ated hepatic expression of acid alpha-glucosidase to correct the biochemical and
motor function deficits of presymptomatic and symptomatic Pompe mice", Human
Gene Therapy; 19 (6): 609-621.

[99] Fraites TJ et al (2002) "Correction of the enzymatic and functional deficits

in a model of Pompe disease using adeno-associated virus vectors", Molecular
Therapy; 5 (5 Pt 1): 571-578.

[ 100] Martin-Touaux E et al (2002) "Muscle as a putative producer of acid alpha-

glucosidase for glycogenosis type II gene therapy". Human Molecular Genetics;
11 (14): 1637-1645.

161

Las Glucogenosis en España

[ 101] Lin CY et al (2002) "Adeno-associated virus-mediated transfer of human acid

maltase gene results in a transient reduction of glycogen accumulation in muscle of
Japanese quail with acid maltase deficiency", Gene Therapy; 9 (9): 554-563.

[ 102] Sun B et al (2003) "Long-term correction of glycogen storage disease type

II with a hybrid Ad-AAV vector", Molecular Therapy; 7 (2): 193-201.

[ 103] Mah C et al (2005) "Sustained correction of glycogen storage disease type

II using adeno-associated virus serotype 1 vectors", Gene Therapy, 12 (18): 1405-
1409.

[104] Pacak CA et al (2006) "Recombinant Adeno-Associated Virus Serotype 9

Leads to Preferential Cardiac Transduction In Vivo", Circulation Research; 99
(4): e3-9.

[ 105] Mah C et al (2007) "Physiological correction of Pompe disease by systemic

delivery of adeno-associated virus serotype 1 vectors", Molecular Therapy;l5 (3):
501-507.

[ 106] Sun B et al (2008) "Correction of multiple striated muscles in murine Pompe

disease through adeno-associated virus-mediated gene therapy", Molecular Ther-
apy; 16(8): 1366-1371.

[ 107| Douillard-Guilloux G et al (2008) "Modulation of glycogen synthesis by

RNA interference: towards a new therapetic approach for glycogenosis type II",