Results 21 to 30 of about 56,617 (329)

Brain Damage in Glycogen Storage Disease Type I

Pediatric Neurology Briefs, 2004
The occurrence of brain damage in 19 patients (13 girls and 6 boys) with glycogen storage disease type I (GSDI) was evaluated at the Universita “Federico II”, Naples, Italy.
J Gordon Millichap
doaj   +3 more sources

Generation and characterization of three human induced pluripotent stem cell lines from patients with glycogen storage disease type II

Stem Cell Research
Glycogen storage disease type II (GSDII), or Pompe disease, is a rare autosomal recessive metabolic disorder characterized by the deficiency of the lysosomal enzyme acid alpha-glucosidase (GAA).
Matthieu Lejars, Christelle Kabore, Benjamin Marande, Laura Brulle-Soumare, Nejette Lallouche, Karim Wahbi, Edoardo Malfatti, Teresinha Evangelista, Lina El Kassar, Pascal Fragner, Karine Giraud-Triboult, Lucile Hoch, Xavier Nissan, Quentin Miagoux   +13 more
doaj   +2 more sources

Molecular Screening of Feline Glycogen Storage Disease Type II (Pompe Disease): Allele Frequencies of the <i>GAA</i>:c.1799G>A and c.55G>A Variants. [PDF]

Genes (Basel)
Faruq AA, Rakib TM, Islam MS, Yabuki A, Pervin S, Maki S, Tanaka S, Arakawa N, Yamato O.   +8 more
europepmc   +3 more sources

Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease, 2003
The importance of proper lysosomal activity in cell and tissue homeostasis is underlined by "experiments of nature", i.e. genetic defects in one of the at least 40 lysosomal enzymes/proteins present in the human cell. The complete lack of 1-4 alpha-glucosidase (glycogen storage disease type II (GSD II) or Pompe disease) is life-threatening.
Hesselink, M.K.C., Wagenmakers, A.J.M., Bemelman, W.A., van der Vusse, G.J.   +3 more
openaire   +5 more sources

Comprehensive approach to weaning in difficult-to-wean infantile and juvenile-onset glycogen-storage disease type II patients: a case series. [PDF]

Ital J Pediatr, 2019
Xu L, Ba H, Pei Y, Huang X, Liang Y, Zhang L, Huang H, Zhang C, Tang W.   +8 more
europepmc   +3 more sources

The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II). [PDF]

Orphanet J Rare Dis
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT, and the MetabERN Subnetwork for Lysosomal Disorders.   +21 more
europepmc   +3 more sources

Clinical features and genetic analysis of 5 cases of infantile-type glycogen storage disease type II: Case reports. [PDF]

Medicine (Baltimore)
Feng Q, Zhang MQ, Ba CX, Zhang YQ.
europepmc   +2 more sources

Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients. [PDF]

Autophagy, 2012
Nascimbeni AC, Fanin M, Masiero E, Angelini C, Sandri M.   +4 more
europepmc   +3 more sources

Glycogen Storage Disease Type II [PDF]

, 2020
National Cancer Institute
openaire   +2 more sources

Enzyme replacement therapy during pregnancy and breastfeeding in late-onset Pompe disease [PDF]

International Breastfeeding Journal
Background Pompe disease is an autosomal recessively inherited lysosomal storage disorder, caused by enzyme deficiency of acid alpha-glucosidase (GAA). This deficiency leads to the accumulation of glycogen in lysosomes and subsequent muscle dysfunction ...
Magdalena Bachmann, David Kasper, Sabine Scholl-Bürgi, Julian Margreitter, Alexander Höller, Wolfgang Löscher, Daniela Karall, Thomas Zöggeler   +7 more
doaj   +2 more sources