Results 21 to 30 of about 20,098 (149)

Assessment of adeno-associated virus gene therapies efficacy on acid alpha-glucosidase restoration and glycogen storage correction in cardiac muscle of Pompe disease mice using synchrotron infrared and ultraviolet microspectroscopies

Journal of Spectral Imaging, 2019
Pompe disease (glycogen storage disease type II) is a lysosomal storage disorder due to a mutation in the gene that encodes acid alpha-glucosidase (GAA).
Laurence Dubreil, Lydie Lagalice, Johan Deniaud, Antoine Sabourin, Claire Lovo, Karim Bey, Juliette Hordeaux, Chantal Thorin, Christophe Sandt, Frédéric Jamme, Marie-Anne Colle   +10 more
doaj   +1 more source

Anaesthetic management of a patient with Pompe disease for kyphoscoliosis correction

Indian Journal of Anaesthesia, 2016
Pompe disease (PD) is a type II glycogen storage disease, characterised by abnormal glycogen deposition, mainly in heart and skeletal muscles, leading to progressive loss of muscle function.
Vaishali Kumbar, Jayashree Simha, Parameswara Gundappa   +2 more
doaj   +1 more source

Induced pluripotent stem cell for modeling Pompe disease

Frontiers in Cardiovascular Medicine, 2022
Pompe disease (PD) is a rare, autosomal recessive, inherited, and progressive metabolic disorder caused by α-glucosidase defect in lysosomes, resulting in abnormal glycogen accumulation.
Wenjun Huang, Yanmin Zhang, Yanmin Zhang, Rui Zhou   +3 more
doaj   +1 more source

Generation of induced pluripotent stem cells (iPSCs) from an infant with Pompe disease carrying with compound mutations of R608X and E888X in GAA gene

Stem Cell Research, 2019
Induced pluripotent stem cells (iPSCs) were generated from peripheral blood mononuclear cells (PBMCs) isolated from the peripheral blood of a five months-old boy with glycogen storage disease type II(GSD II, also known as Pompe disease, PD) carries ...
Yanmin Zhang, Anmao Li, Jie Wang, Guoxia Wang, Danying Wang   +4 more
doaj   +1 more source

Late-onset Pompe disease: what is the prevalence of limb-girdle muscular weakness presentation?

Arquivos de Neuro-Psiquiatria
Pompe disease is an inherited disease caused by acid alpha-glucosidase (GAA) deficiency. A single center observational study aimed at assessing the prevalence of late-onset Pompe disease in a high-risk Brazilian population, using the dried blood spot ...
Paulo José Lorenzoni, Cláudia Suemi Kamoi Kay, Nádia Sugano Higashi, Vânia D'Almeida, Lineu Cesar Werneck, Rosana Herminia Scola   +5 more
doaj   +1 more source

Late-onset Pompe disease in a patient with cerebellar hemorrhage [PDF]

Анналы клинической и экспериментальной неврологии
Pompe disease (glycogen storage disease type II) is a rare autosomal recessive multisystem disorder characterized by the deposition of glycogen in skeletal muscles and internal organs.
Vitalii V. Goldobin, Elena G. Klocheva, Tatyana G. Vstavskaya, Khosiddin F. Yuldashev, Alexandra D. Munasipova   +4 more
doaj   +1 more source

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018

International Journal of Neonatal Screening, 2023
The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS).
Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam, Scott D. Grosse   +4 more
doaj   +1 more source

Glycogen storage disease types I and II: Treatment updates [PDF]

Journal of Inherited Metabolic Disease, 2007
AbstractPrior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. Despite improved survival and growth, long‐term complications of GSD type I (GSD I) have not responded to dietary therapy with ...
D D, Koeberl, P S, Kishnani, Y T, Chen
openaire   +2 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   +1 more source

Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b

Diabetology & Metabolic Syndrome, 2023
Background Glycogen storage disease type 1b (GSD1b) is an autosomal recessive lysosomal storage disease caused by defective glucose-6-phosphate transporter encoded by SLC37A4 leading to the accumulation of glycogen in various tissues.
Latifa Chkioua, Yessine Amri, Chayma Sahli, Ferdawes Ben Rhouma, Amel Ben Chehida, Neji Tebib, Taieb Messaoud, Hassen Ben Abdennebi, Sandrine Laradi   +8 more
doaj   +1 more source