Zobrazeno 1 - 10
of 122
pro vyhledávání: '"GAA GENE"'
Autor:
Valentina Martinez‐Montoya, Luz María Sánchez‐Sánchez, Roberto Sandoval‐Pacheco, Diana Mónica Anaya Castro, Carmen Araceli Arellano‐Valdez, Carmen Amor Ávila‐Rejón, Pedro Alejandro Aguilar‐Juárez, Martín Espino‐Pluma, Cruz Antonio González‐Santillanes, Rosa Isela Martínez‐Segovia, Dorian Olmos‐Morfin, Ofelia Padilla‐De laTorre, Ishar Solís‐Sánchez, Mónica Vázquez‐Del Mercado Espinosa, Camilo Ernesto Villarroel‐Cortés, Jesús Salvador Velarde‐Félix, Jaime López‐Valdez, Julio Olaiz‐Urbina, Edgar Ricárdez‐Marcial, Imelda Vergara‐Sánchez, Pablo Radillo‐Díaz, Ekaterina Kazakova, Beatriz De la Fuente‐Cortez, Luz delCarmen Marquez‐Quiróz, Benjamín Torres‐Octavo, Rubicel Diaz‐Martinez
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 12, Iss 7, Pp n/a-n/a (2024)
Abstract Background Pompe Disease (PD) is a metabolic myopathy caused by variants in the GAA gene, resulting in deficient enzymatic activity. We aimed to characterize the clinical features and related genetic variants in a series of Mexican patients.
Externí odkaz:
https://doaj.org/article/10c85aa27eff45718f043839c276dd00
Akademický článek
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Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 17-22 (2023)
Abstract Infantile‐onset Pompe disease manifests with early signs of cardiomyopathy during the first few days to weeks of life. We present the case of a newborn born via emergency cesarean section with atrial flutter and moderate biventricular hype
Externí odkaz:
https://doaj.org/article/5f98fb1620e64e7e8aafb6076119f8d2
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 61, Iss 6, Pp 995-998 (2022)
Objective: The aim of this retrospective study is to determine the prenatal ultrasound markers of patients diagnosed postnatally with infantile-onset Pompe disease (IOPD). Materials and methods: This is a retrospective study of cases with a postnatal
Externí odkaz:
https://doaj.org/article/9263d827d7a24f70b0b718bf2ed37d03
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 32, Iss , Pp 100893- (2022)
Infantile onset Pompe disease (IOPD) is a rare devastating disease that presents in early infancy with rapidly progressive hypertrophic cardiomyopathy, severe generalized myopathy and death within the first year of life. The emergence of enzyme repla
Externí odkaz:
https://doaj.org/article/a9f869d8a0744b229b6f4b410c6c5558
Autor:
Rui Dong, Xuxia Wei, Kaihui Zhang, Fengling Song, Yuqiang Lv, Min Gao, Dong Wang, Jian Ma, Zhongtao Gai, Yi Liu
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: Glycogen storage diseases (GSDs) are known as a group of disorders characterized by genetic errors leading to accumulation of glycogen in various tissues. Since different types of GSD can sometimes be clinically indistinguishable, next ge
Externí odkaz:
https://doaj.org/article/aa26ad69c4b74e879d727e9fb9b97e4c
Autor:
Paula Hernández-Arévalo, José D. Santotoribio, Rocío Delarosa-Rodríguez, Antonio González-Meneses, Salvador García-Morillo, Pilar Jiménez-Arriscado, Juan M. Guerrero, Hada C. Macher
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Abstract Background Pompe disease (PD) is an autosomal recessive metabolic disorder caused by pathogenic variants in the acid α-glucosidase gene (GAA) that produces defects in the lysosomal acid α-1,4-glucosidase. We aimed to identify genetic varia
Externí odkaz:
https://doaj.org/article/5249bd137dc243e5939c2dcaabf1b844
Autor:
Magdalena Cerón‐Rodríguez, Daniela Castillo‐García, Carlos‐Patricio Acosta‐Rodríguez‐Bueno, Jesús Aguirre‐Hernández, Juan‐Rafael Murillo‐Eliosa, Pedro Valencia‐Mayoral, Argelia Escobar‐Sánchez, Juan‐Luis Salgado‐Loza
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 7, Pp n/a-n/a (2022)
Abstract Pompe disease (PD) is an autosomal recessive disorder by a deficiency of acid α‐glucosidase (GAA) with intralysosomal glycogen accumulation in multiple tissues. We present the case of a 5‐month‐old male with hypertrophic cardiomyopath
Externí odkaz:
https://doaj.org/article/1d4d719b65a24738b6cb1df1be263651
Novel Mutation in the Feline GAA Gene in a Cat with Glycogen Storage Disease Type II (Pompe Disease)
Autor:
Tofazzal Md Rakib, Md Shafiqul Islam, Shigeki Tanaka, Akira Yabuki, Shahnaj Pervin, Shinichiro Maki, Abdullah Al Faruq, Martia Rani Tacharina, Osamu Yamato
Publikováno v:
Animals, Vol 13, Iss 8, p 1336 (2023)
Glycogen storage disease type II (Pompe disease: PD) is an autosomal recessively inherited fatal genetic disorder that results from the deficiency of a glycogen hydrolyzing enzyme, acid α-glucosidase encoded by the GAA gene. Here, we describe the mo
Externí odkaz:
https://doaj.org/article/8141baeef4014d0381d2b05aaa20e62b
Publikováno v:
Нервно-мышечные болезни, Vol 9, Iss 2, Pp 43-49 (2019)
Pompe disease is an orphan hereditary accumulation disease associated with a deficiency of the lysosomal enzyme alglucosidase alpha. Manifestations of the disease are associated with pathological deposition of glycogen in body tissues as a result of
Externí odkaz:
https://doaj.org/article/8201702c85ed42e8b8237c24b190c6e3