Results 51 to 60 of about 17,404,319 (246)

Functional assessment using short tests in a patient with Pompe disease receiving enzyme replacement therapy: case report

Case Reports, 2019
Introduction: Pompe disease is characterized by the deficiency of the acid alfa glucosidase enzyme, which leads to a glycogen accumu­lation mainly in cardiac and skeletal muscles.
Thomas Torres-Cuenca, Jorge Arturo Díaz-Ruíz, Fernando Ortiz-Corredor   +2 more
doaj   +1 more source

A RARE CAUSE OF BOTH HYPO AND HYPERGLYCEMIA; GLYCOGEN STORAGE DISEASE TYPE 0: A CASE REPORT

, 2021
Glycogen-storage disease type 0A is a rare autosomal recessively inherited disease resulting from a hepatic glycogen synthase enzyme deficiency.
Meryem Karaca, Karaca, Meryem, Aslan, Halil, Halil Aslan   +3 more
core   +1 more source

SEC Mediates m6A Deposition and Transcription Pause Release to Drive Cell Identity Transition

Advanced Science, EarlyView.
The SEC promotes cell identity transitions by facilitating transcription pause release at key identity‐associated genes, including Klf4 and Myc during iPSC reprogramming and Nes and Tubb3 during ESC‐to‐neuroectodermal differentiation. During early iPSC reprogramming, this function additionally involves cooperation with METTL3‐associated m6A regulation.
Zhijing Zhang, Jingyi Xu, Yonghong Wu, Yitong Qu, Xinglin Hu, Yuchen Sun, Yanshuang Wu, Zhonghua Liu, Jiaqiang Wang, Lei Lei   +9 more
wiley   +1 more source

Exercise testing in late-onset glycogen storage disease type II patients undergoing enzyme replacement therapy.

, 2012
Enzyme replacement therapy (ERT) has recently became available for patients with glycogen storage disease type II. Previous studies have demonstrated clinical efficacy of enzyme replacement therapy, however, data on physiological variables related to ...
Bellistri, Giuseppe, Marzorati M., Grassi B., Porcelli S., Porcelli, Simone, Marzorati, Mauro, Morandi L., G. Bellistri, GRASSI, Bruno, L. Morandi, B. Grassi, M. Marzorati, S. Porcelli, Bellistri G., Morandi, Lucia   +14 more
core   +1 more source

Characterization of the extracellular matrix from human and dog umbilical cords

The Anatomical Record, EarlyView.
Abstract The extracellular matrix is important for maintaining tissue morphogenesis and homeostasis; it can also be used as a biomaterial for the production of biological scaffolds. Particularly, the umbilical cord has shown potential in the production of scaffolds for small‐diameter vessels.
Ana Carla Mendonça, Roberta Losi Guembarovski, Carlos Alberto Miqueloto, Alda Fiorina Maria Losi Guembarovski, Caio Garcia Barbosa da Silva, Laís Capelasso Lucas Pinheiro, Phelipe Oliveira Favaron   +6 more
wiley   +1 more source

A nonsense mutation in the acid α-glucosidase gene causes Pompe disease in Finnish and Swedish Lapphunds.

PLoS ONE, 2013
Pompe disease is a recessively inherited and often fatal disorder caused by the deficiency of acid α-glucosidase, an enzyme encoded by the GAA gene and needed to break down glycogen in lysosomes.
Eija H Seppälä, Arnold J J Reuser, Hannes Lohi   +2 more
doaj   +1 more source

A Modified Enzymatic Method for Measurement of Glycogen Content in Glycogen Storage Disease Type IV

, 2016
Deficiency of glycogen branching enzyme in glycogen storage disease type IV (GSD IV) results in accumulation of less-branched and poorly soluble polysaccharides (polyglucosan bodies) in multiple tissues.
Yi, Haiqing, Haiqing Yi, Sun, Baodong, Chunyu Yang, Kishnani, Priya S, Priya S. Kishnani, Zhang, Quan, Quan Zhang, Yang, Chunyu, Baodong Sun   +9 more
core   +1 more source

Developmental Characteristics of the Embryonic Liver Tissue and Long‐Term Culture of Primary Hepatocytes in Duck

Animal Research and One Health, EarlyView.
Liver development was investigated at different embryonic ages (EAs). Furthermore, numerous hepatocyte media were formulated and evaluated. These results could elaborate the developmental characteristics of duck liver tissue and determine the most suitable medium for the proliferation and characteristic maintenance of hepatocytes in vitro, which would ...
Jie Wei, Jing Tang, Bo Zhang, Chenchen Du, Yunsheng Zhang, Ming Xie, Zhengkui Zhou, Shuisheng Hou   +7 more
wiley   +1 more source

Efficacy and safety of empagliflozin for treating neutropenia and neutrophil dysfunction in paediatric patients with glycogen storage disease type Ib: A systematic review and meta‐analysis

British Journal of Clinical Pharmacology, EarlyView.
Aims Glycogen storage disease type Ib (GSD‐Ib) is a rare genetic disorder causing neutropenia and neutrophil dysfunction in children. G‐CSF has been the primary treatment, but emerging data support the potential of empagliflozin, an SGLT2 inhibitor, as a promising investigational option.
Elizabeth Iwasyk, Ryan Jin, Fabio Tuzzolino, Giusy Ranucci, Donatella Madonia, Alessio Provenzani   +5 more
wiley   +1 more source

Glycogen storage disease type III : A novel Agl knockout mouse model [PDF]

, 2014
Glycogen storage disease type III is an autosomal recessive disease characterized by a deficiency in the glycogen debranching enzyme, encoded by AGL.
M. Moggio, N. Bresolin, S. Lucchiari, R. Violano, G.P. Comi, M. Ripolone, S. Corti, A. Bordoni, G. Ulzi, S. Gatti, S. Pagliarani, M. Nizzardo   +11 more
core   +1 more source