Results 51 to 60 of about 20,098 (149)

Glycogen Storage Disease Type II [PDF]

, 2020
openaire   +1 more source

Enzyme replacement therapy compared with best supportive care for the treatment of Pompe Disease: a systematic review and network meta-analysis

Health Technology Assessment
Background Late-onset Pompe disease is a rare inherited genetic condition that causes progressive muscle dysfunction and damage. As the disease advances, the progressive weakening of respiratory muscles significantly increases the risk of respiratory ...
Mark Corbett, Chinyereugo Umemneku-Chikere, Sarah Nevitt, Nyanar Jasmine Deng, Matthew Walton, Helen Fulbright, Chong Yew Tan, Robin Lachmann, Rachel Churchill, Robert Hodgson   +9 more
doaj   +1 more source

Enzyme replacement therapy for the treatment of late onset Pompe disease: A systematic review and network meta-analysis

Orphanet Journal of Rare Diseases
Background Late-onset Pompe disease (LOPD) is a rare inherited genetic condition caused by deficiency of acid α-glucosidase (GAA) and accumulation of lysosomal glycogen.
Mark Corbett, Chinyereugo Umemneku-Chikere, Sarah Nevitt, Nyanar Jasmine Deng, Matthew Walton, Helen Fulbright, Chong Yew Tan, Robin Lachmann, Rachel Churchill, Robert Hodgson   +9 more
doaj   +1 more source

A New Mutation Causing Severe Infantile-Onset Pompe Disease Responsive to Enzyme Replacement Therapy

Iranian Journal of Medical Sciences, 2018
Pompe disease (PD), also known as “glycogen storage disease type II (OMIM # 232300)” is a rare autosomal recessive disorder characterized by progressive glycogen accumulation in cellular lysosomes. It ultimately leads to cellular damage.
Hossein Moravej, Anis Amirhakimi, Alireza Showraki, Hamid Amoozgar, Zahra Hadipour, Ghasem Nikfar   +5 more
doaj  

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

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   +1 more source

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   +1 more source

[A case of glycogen storage disease type II and related analysis]. [PDF]

Zhonghua Gan Zang Bing Za Zhi, 2017
Han JM, Zhang LY, Sun L, Lu Y, Li MH.
europepmc   +1 more source

The role of autophagy in the pathogenesis of glycogen storage disease type II (GSDII). [PDF]

Cell Death Differ, 2012
Nascimbeni AC, Fanin M, Masiero E, Angelini C, Sandri M.   +4 more
europepmc   +1 more source

Identification of a Pathogenic Mutation for Glycogen Storage Disease Type II (Pompe Disease) in Japanese Quails (<i>Coturnix japonica</i>). [PDF]

Genes (Basel)
Faruq AA, Matsui T, Maki S, Arakawa N, Watanabe K, Kobayashi Y, Rakib TM, Islam MS, Yabuki A, Yamato O.   +9 more
europepmc   +1 more source

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   +1 more source