Zobrazeno 1 - 10
of 154
pro vyhledávání: '"GBA gene"'
Autor:
Antonio De Vivo, Giovanni Marconi, Nicola Tumedei, Elisa Luicchini, Maria Chiara Finazzi, Ilaria Maria Burgo, Gian Luca Forni, Silvia Linari
Publikováno v:
Italian Journal of Medicine, Vol 18, Iss 2 (2024)
Gaucher disease (GD) is a rare genetic disorder characterized by glucocerebrosidase deficiency. Over 50% of patients with mild disease go undiagnosed, suggesting that GD diagnosis rates are still significantly low despite advancements in medical know
Externí odkaz:
https://doaj.org/article/ec284c6d1979463bae51f723483260f8
Publikováno v:
Taiwanese Journal of Obstetrics & Gynecology, Vol 62, Iss 1, Pp 175-178 (2023)
Objective: In order to figure out the cause for two consecutive fetuses with nonimmune hydrops fetalis (NIHF) in a Taiwanese couple, whole-Exome Sequencing and Sanger Sequencing were applied for the family. Case report: The two fetuses developed NIHF
Externí odkaz:
https://doaj.org/article/222afb79ebd74c98ab34e29fd67fda9c
Autor:
Houweyda Jilani, Faten Hsoumi, Imen Rejeb, Yasmina Elaribi, Syrine Hizem, Molka Sebai, Arndt Rolfs, Lamia Benjemaa
Publikováno v:
Clinical Case Reports, Vol 10, Iss 5, Pp n/a-n/a (2022)
Abstract Gaucher disease (GD) is a rare metabolic disorder due to pathogenic variants in the GBA gene. We report the first case of the rare p.Arg87Trp pathogenic variant (formerly known as R48W) of the GBA gene in the Tunisian population. A female Ar
Externí odkaz:
https://doaj.org/article/71e67b5153df45e58b6925c31be3b13c
Autor:
Elena V. Grigor’eva, Alena E. Kopytova, Elena S. Yarkova, Sophia V. Pavlova, Diana A. Sorogina, Anastasia A. Malakhova, Tuyana B. Malankhanova, Galina V. Baydakova, Ekaterina Y. Zakharova, Sergey P. Medvedev, Sofia N. Pchelina, Suren M. Zakian
Publikováno v:
International Journal of Molecular Sciences, Vol 24, Iss 5, p 4437 (2023)
GBA variants increase the risk of Parkinson’s disease (PD) by 10 times. The GBA gene encodes the lysosomal enzyme glucocerebrosidase (GCase). The p.N370S substitution causes a violation of the enzyme conformation, which affects its stability in the
Externí odkaz:
https://doaj.org/article/365091594fc848809889675d20533582
Publikováno v:
BMC Medical Genomics, Vol 12, Iss 1, Pp 1-12 (2019)
Abstract Background Attention-Deficit Hyperactivity Disorder (ADHD) is a complex neurodevelopmental disorder (NDD) which may significantly impact on the affected individual’s life. ADHD is acknowledged to have a high heritability component (70–80
Externí odkaz:
https://doaj.org/article/4cc8faac685f41588b4b3cb38743d476
Autor:
Zainab Tuama Aldahlee
Publikováno v:
Baghdad Science Journal, Vol 18, Iss 4 (2021)
Transgenic plants offer advantages for the manufacture of recombinant proteins with terminal mannose residues on their glycan chains. So plants are chosen as source of pharmaceutical products and for the development of alternative expression systems
Externí odkaz:
https://doaj.org/article/58fdce38dc394de9bd0306fe4b1e83d2
Akademický článek
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Akademický článek
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Autor:
Snežana Minić, Dušan Trpinac, Ivana Novaković, Nataša Cerovac, Danijela Dobrosavljević Vukojević, Jérémie Rosain
Publikováno v:
Diagnostics, Vol 12, Iss 7, p 1711 (2022)
Rare diseases represent a diagnostic challenge due to their number, variety of clinical phenomena, and possibility of a simultaneous presence of two or more diseases. An illustration of this challenge is an occurrence of a late diagnosis of a proband
Externí odkaz:
https://doaj.org/article/995e8b2ab52341f284c9c159dd9bb147
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Introduction Gaucher's disease (GD) is an autosomal-recessive lysosomal storage disorder that results from hereditary deficiency of the acid glucocerebrosidase enzyme, encoded by the GBA gene necessary for the degradation of glucosylceramide
Externí odkaz:
https://doaj.org/article/9c6fcd621428422f890c154b24d93de4