Results 61 to 70 of about 25,851 (276)

DBS Screening for Glycogen Storage Disease Type 1a: Detection of c.648G>T Mutation in G6PC by Combination of Modified Competitive Oligonucleotide Priming-PCR and Melting Curve Analysis

International Journal of Neonatal Screening, 2021
Glycogen storage disease type Ia (GSDIa) is an autosomal recessive disorder caused by glucose-6-phosphatase (G6PC) deficiency. GSDIa causes not only life-threatening hypoglycemia in infancy, but also hepatocellular adenoma as a long-term complication ...
Emma Tabe Eko Niba, Yogik Onky Silvana Wijaya, Hiroyuki Awano, Naoko Taniguchi, Yasuhiro Takeshima, Hisahide Nishio, Masakazu Shinohara   +6 more
doaj   +1 more source

A Brain‐Penetrant Nanobody Reveals GSK3β‐Driven Proline‐Directed Phosphorylation as a Master Regulator of Ischemic Neurodegeneration

Advanced Science, EarlyView.
A brain‐targeted nanoparticle enables delivery of a therapeutic nanobody (Nb.29E9) that inhibits pathogenic GSK3β signaling. This intervention restores AMPK/mTORC1/TGFβ homeostasis, attenuates neuroinflammation and oxidative stress, and promotes long‐term functional recovery after ischemic stroke.
Lan Li, Muyang Li, Lei Sun, Ying Yang, Yuanshun Wu, Ziyi Yin, Anni Wang, Peiyang Zhou, Shaoxiang Luo, Jian Chen, Jun Qin, Zhibing Ai, Zilong Yuan, Zhiqiang Dong, Min Zhang   +14 more
wiley   +1 more source

Clinical, Biochemical and Molecular Characterization of a Cohort of Glycogen Storage Disease Type I Patients in a High Complexity Hospital in Argentina

Journal of Inborn Errors of Metabolism and Screening, 2021
Glycogen storage disease type I is an autosomal recessive disorder of carbohydrate metabolism that manifests mainly by hepatomegaly and hypoglycemia with short fasts. Despite strict therapy, patients present long-term renal and liver complications.
Verónica Bindi, Hernán D. Eiroa, Carolina Crespo, María Martinez, Luisa Bay   +4 more
doaj   +1 more source

A Single‐Cell Transcriptomic Atlas of the Ovine Rumen Microbiome Characterizes Lineage‐Specific Metabolic Shifts Associated with Host Heat Tolerance

Advanced Science, EarlyView.
An optimized single‐cell transcriptomic framework profiles over 60 000 cells to map the ovine rumen microbiome, partitioning the ecosystem into seven cross‐species functional clusters. In heat‐resistant hosts, a lineage‐specific metabolic shift in Anaerovibrio lipolyticus toward a highly glycolytic phenotype contributes to a “nutritional sparing ...
Sanbao Zhang, Qinyang Jiang, Junjie Ma, Jianwei Zou, Fan Wang, Feifei Lv, Yanna Huang, Yongcheng Wang, Ziye Xu   +8 more
wiley   +1 more source

Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

Orphanet Journal of Rare Diseases, 2022
Background Glycogen storage diseases (GSDs) with liver involvement are classified into types 0, I, III, IV, VI, IX and XI, depending on the affected enzyme.
Miriam Massese, Francesco Tagliaferri, Carlo Dionisi-Vici, Arianna Maiorana   +3 more
doaj   +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

Alternative nighttime nutrition regimens in glycogen storage disease type I: a controlled crossover study

, 2015
BACKGROUND Traditional approaches for nighttime glycemic control in glycogen storage disease type I (GSDI) include continuous tube feeding, or ingestion of uncooked corn starch (CS) at bedtime.
Krützfeldt, Jan, Baumgartner, Matthias R, Roger Lehmann, Hochuli, Michel, Matthias R. Baumgartner, Michel Hochuli, Lehmann, Roger, Emanuel Christ, Christ, Emanuel, Meienberg, Fabian, Jan Krützfeldt, Fabian Meienberg   +11 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

Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study

, 2013
Life expectancy of patients with glycogen storage disease (GSD) type I has improved considerably, opening new problems correlated with adult age. In females polycystic ovaries (PCOs) has been described as frequently associated with the disease, however ...
Daniela Melis, Annunziata Lapolla, Di Rocco, Maja, Melis, Daniela, Francesca Carubbi, Lapolla, Annunziata, Maja Di Rocco, Paci, Sabrina, CARUBBI, Francesca, Laura Deroma, Miriam Rigoldi, Sabrina Paci, Deroma, Laura, Annalisa Sechi, Sechi, Annalisa, Burlina, Alberto, Rigoldi, Miriam, Alberto Burlina   +17 more
core   +1 more source