Human Molecular Genetics; 17 (24): 3876-3886.
[108 ] Richard E et al (2008) "Correction of glycogenosis type 2 by muscle-specific lentivi-
ral vector". In Vitro Cellular & Developmental Biology-Animal; 44 ( 10): 397-406.
[ 1()9| Mah, C et al (2004) "A new method for recombinant adeno-associated virus
vector delivery to murine diaphragm", Molecular Therapy; 9 (3): 458-463.
[110] Martiniuk F et al (2002) "Helios gene gun particle delivery for therapy of
acid maltase deficiency", DNA Cell Biology; 21 (10): 717-725.
[ 111 ] Lu IL et al (2003) "Correction/mutation of acid alpha-D-glucosidase gene
by modified single-stranded oligonucleotides: in vitro and in vivo studies", Gene
Therapy; 10(22): 1910-1916.
[112] Asakura A et al (2001) "Muscle satellite cells are multipotential stem cells
that exhibit myogenic, osteogenic, and adipogenic differentiation", Differentia-
tion; 68 (4-5): 245-253.
162
Las Glucogenosis en España
[113] Zammit P y J Beauchamp (2001). "The skeletal muscle satellite cell: stem
cell or son of stem cell?". Differentiation; 68 (4-5): 193-204.
[ 114] Goodell MA et al (2001). "Stem cell plasticity in muscle and bone marrow",
Annals of the New York Academy of Science; 938: 208-220.
[115] Seale P et al (2001) "The potential of muscle stem cells", Developmental
Cell; 1 (3): 333-342.
[116] Li Y y J Huard (2002) "Differentiation of muscle-derived cells into myofi-
broblasts in injured skeletal muscle", American Journal of Pathology; 161 (3):
895-907.
[117] Qu-Petersen Z et al (2002) "Identification of a novel population of muscle
stem cells in mice: potential for muscle regeneration", Journal of Cell Biology; 157
(5): 851-864.
[118) Asakura A (2003) "Stem cells in adult skeletal muscle", Trends in Cardio-
vascular Medicine; 13(3): 123-128.
[ 119| Camargo FD et al (2003) "Single hematopoietic stem cells generate skele-
tal muscle through myeloid intermediates", Nature Medicine; 9 (12): 1520-1527.
[120] Kobinger GP et al (2003) "Correction of the dystrophic phenotype by in
vivo targeting of muscle progenitor cells", Human Gene Therapy; 14 ( 15): 1441 -
1449.
[ 121] Blot M et al (2006) "Mesoangioblast stem cells ameliorate muscle function
in dystrophic dogs". Nature; 444 (7119): 574-579.
[ 122] Mori J et al (2008) "Hematopoietic contribution to skeletal muscle regen-
eration in acid alpha-glucosidase knockout mice", Journal of Histochemistry and
Cytochemistry; 56 (9): 811-817.
[123] lezzi S et al (2004) "Deacetylase inhibitors increase muscle cell size by pro-
moting myoblast recruitment and fusion through induction of follistatin", Devel-
opmental Cell; 6 (5): 673-684.
[124] Parenti G et al (2007) "Pharmacological enhancement of mutated alpha-
glucosidase activity in fibroblasts from patients with Pompe disease", Molecular
Therapy; 15 (3): 508-514.
163
Las Glucogenosis En España
[125] Okumiya T et al (2007) "Chemical chaperones improve transport and en-
hance stability of mutant alpha-glucosidases in glycogen storage disease type II",
Molecular Genetics and Metabolism; 90 ( 1 ): 49-57.
[126] Gort L, MJ Coll y A Chabás A (2007) "Glycogen storage disease type II in
Spanish patients: High frequency of C.1076-1G>C mutation", Molecular Genet-
ics and Metabolism; 92 ( 1 -2): 183-187.
[127] Winchester B et al (2008) "Methods for a prompt and reliable laboratory
diagnosis of Pompe disase: report from an international consensus meeting", Mo-
lecular Genetics and Metabolism; 93 (3): 275-281.
[128] Wierzba-Bobrowicz T et al (2007) "Adult glycogenosis type II (Pompe's
disase): morphological abnormalities in muscle and skin biopsies compared with
acid alpha-glucosidase activity", Folia Neuropathologica; 45 (4): 179-186.
[129] Lewandowska E et al (2008) "Pathology of skeletal muscle cells in adult-
onset glycogenosis type II (Pompe disase): ultrastructural study", Folia Neu-
ropathologica; 46 (2): 123-133.
[ 130] Wary C et al (2003) "Evaluation of muscle glycogen content by 13C NMR
spectroscopy in adult-onset acid maltase deficiency", Neuromuscular Disorders ;
13 (7-8): 545-553.
[131 ] Umapathysivam K et al (2001 ) "Determination of acid alpha-glucosidase ac-
tivity in blood spots as a diagnostic test for Pompe disease", Clinical Chemistry;
47(8): 1378-1383.
[132] Gelb MH et al (2006) "Direct multiplex assay of enzymes in dried blood
spots by tandem mass spectrometry for the newborn screening of lysosomal stor-
age disorders", Journal of Inherited Metabolic Diseases; 29 (2-3): 397-404.
[133] Kemper AR et al (2007) "Newborn screening for Pompe disase: synthesis
of the evidence and development of screening recommendations", Pediatrics; 120
(5): e 1327-1334.
[134] Dajnoki A et al (2008) "Newborn screening for Pompe disase by measuring
acid alpha-glucosidase activity using tandem mass spectromety", Clinical Chem-
istry; 54 (10): 1624-1629.
[135] Zhang XK et al (2008) "Multiplex enzyme assay screening of dried blood
spots for lysosomal storage disorders by using tandem mass spectrometry", Clin-
ical Chemistry; 54 (10): 1725-1728.
164
Las Glucogenosis en España
Se autoriza la reproducción de la información contenida en esta guía
informativa, siempre que se cite como fuente expresa a la AEEG.
Asociación Española de Enfermos de Glucogenosis (AEEG)
CI Pepe de Santos, 18,1a escalera, 1o B
30820 Alcantarilla
Murcia (España)
Telf. 675 62 96 85
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http:// www.glucogenosis.org
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La Asociación Española de Enfermos de Glucogenosis se encuentra inte-
grada en:
• Federación Española de Enfermedades Raras (FEDER)
http://www.enfermedades-raras.org
• European Organization for Rare Diseases (EURORDIS)
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