Results 51 to 60 of about 19,271 (154)

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

BMC Medical Genetics, 2019
Background Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene.
Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti   +12 more
doaj   +1 more source

Infantile-onset pompe disease: a case report emphasizing the role of genetic counseling and prenatal testing

BMC Pediatrics
Background Pompe disease, classified as glycogen storage disease type II, arises from a deficiency in the acid alpha-glucosidase (GAA) enzyme, leading to glycogen accumulation in multiple tissues.
Yasaman Alizadeh, Hossein Saidi, Vahid Saeedi, Leila Kamalzadeh   +3 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  

Mitochondrial Dysfunction in Glycogen Storage Disorders (GSDs)

Biomolecules
Glycogen storage disorders (GSDs) are a group of inherited metabolic disorders characterized by defects in enzymes involved in glycogen metabolism. Deficiencies in enzymes responsible for glycogen breakdown and synthesis can impair mitochondrial function.
Kumudesh Mishra, Or Kakhlon
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

Glycogen Storage Disease Type II [PDF]

, 2020
openaire   +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

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

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