Results 81 to 90 of about 17,404,319 (246)

Molecular and clinical characterization of Colombian patients suffering from type III glycogen storage disease [PDF]

, 2017
Introduction: Type III glycogen storage disease (GSD III) is an autosomal recessive disorder in which a mutation in the AGL gene causes deficiency of the glycogen debranching enzyme.
Diana di Filippo, Sepúlveda, María Elsy, Navas Navas, María Cristina, Carolina Mantilla, Juan Álvaro López, Toro, Mónica, Toro Martínez, Mónica, Mónica Toro, di Filippo, Diana, Sepúlveda Hincapié, María Elsy, Mantilla Rojas, Carolina, Mantilla, Carolina, Navas, María Cristina, Baquero, Carolina, María Cristina Navas, López, Juan Álvaro, Arias Sierra, Andrés Augusto, María Elsy Sepúlveda, Andrés Augusto Arias, Margarita Insuasty, Insuasty, Margarita, di Filippo Villa, Diana Carolina, Arias, Andrés Augusto, Carolina Baquero   +23 more
core   +1 more source

GSK3β drives early diabetic tubulopathy via TFEB‐mediated mitochondrial dysfunction

Interdisciplinary Medicine, EarlyView.
Mitochondrial dysfunction, including mitochondrial biogenesis, mitophagy, dynamics and oxidative stress, occurs in the early stages of diabetic tubulopathy, which precede proteinuria and renal histological changes. GSK3β is a potential novel biomarker for the prediction of diabetic tubulopathy.
Lan Yao, Xianhui Liang, Bingyu Li, Bohan Chen, Xiaoyang Wang, Mei Hong, Qi Feng, Yingjin Qiao, Zhangsuo Liu, Kai Wang, Pei Wang   +10 more
wiley   +1 more source

Global variations in diagnostic methods and epidemiological estimates in Pompe disease: findings from a scoping review

Orphanet Journal of Rare Diseases
Background Pompe disease is caused by pathogenic variants in the GAA gene, resulting in lysosomal acid α-glucosidase (GAA) deficiency. The prevalence of Pompe disease is not well-defined, and estimates vary by geographic region.
Roberto Giugliani, Faryn Solomon, Hani Kushlaf, Erica Wright, Tmirah Haselkorn, Edmar Zanoteli, Benedikt Schoser   +6 more
doaj   +1 more source

Biochemical testing and pathology reveal rare cause of pediatric acute liver failure: Hyperornithinemia‐hyperammonemia‐homocitrullinuria syndrome

JPGN Reports, EarlyView.
Abstract Hyperornithinemia‐hyperammonemia‐homocitrullinuria (HHH) syndrome is a rare metabolic condition that can cause lethargy, ataxia, tachypnea, nausea, vomiting, seizures, coma, and acute liver failure. We present a 26‐month‐old female with acute liver failure who was diagnosed with HHH 1 week after admission. Histology revealed an acute hepatitic
Tierra L. Mosher, Kathryn S. Czepiel, Matthew B. Neu, Andrea Carolina Cortes Fernandez, L. Walden Browne, Annie D. Niehaus, Roberto Gugig   +6 more
wiley   +1 more source

A case of glycogen storage disease Type III

, 1996
Glycogen storage diseases (GSD) are hereditary metabolic disorders leading to the storage in cells of glycogen of normal or abnormal structure.

core  

Gymnema sylvestre: Bioactive constituents, health benefits, and emerging applications in nutraceuticals and functional foods

JSFA reports, EarlyView.
Abstract Gymnema sylvestre (Retz.) R.Br. ex‐Schult., commonly known as “gurmar” or “sugar destroyer,” belongs to the Apocynaceae family and is traditionally used in Ayurveda for diabetes management. This review synthesizes ethnomedicinal evidence with contemporary pharmacological studies, to evaluate the therapeutic properties and mechanistic actions ...
Faiza Saeed, Muhammad Tauseef Sultan, Hassan Raza, Ahmad Mujtaba Noman, Nimra Haroon, Entessar Mohammad Al Jbawi   +5 more
wiley   +1 more source

Lysosomal dysfunction in muscle with special reference to glycogen storage disease type II [PDF]

, 2003
The importance of proper lysosomal activity in cell and tissue homeostasis is underlined by experiments of nature , i.e. genetic defects in one of the at least 40 lysosomal enzymes/proteins present in the human cell.
Drost, Maarten R, Van der Vusse, Ger J, Wagenmakers, Anton, Hesselink, RP Reinout, Drost, M.R., Drost, M Maarten, Vusse, G Ger van der, van der Vussw, GJ, Hesselink, M.K.C., Vusse, van der, G.J., Hesselink, RP, Hesselink, R.P, Anton J.M Wagenmakers, Maarten R Drost, Wagenmakers, AJM Anton, Wagenmakers, A.J.M., Ger J Van der Vusse, Hesselink, Reinout P, Wagenmakers, Anton J.M, Bemelman, W.A., van der Vusse, G.J., Drost, M, Reinout P Hesselink   +22 more
core   +2 more sources

Metabolomic insights for the authentication and traceability of antibiotic‐free pork: a pilot study

Journal of the Science of Food and Agriculture, EarlyView.
Abstract BACKGROUND Antibiotic‐free production within the meat supply chain is a source of concern since new voluntary label claims need to be authenticated to prevent fraud. Therefore, an untargeted 1H NMR‐based metabolomics approach coupled to unsupervised (principal component analysis) and supervised (orthogonal partial least squares discriminant ...
Maria Olga Varrà, Maria Pia Fabrile, Sergio Ghidini, Augusta Caligiani, Federico Scali, Veronica Lolli, Giovanni Loris Alborali, Adriana Ianieri, Emanuela Zanardi   +8 more
wiley   +1 more source

Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease

Frontiers in Neurology
Enzyme replacement therapy (ERT) is the only approved disease-modifying treatment modality for Pompe disease, a rare, inherited metabolic disorder caused by a deficiency in the acid α-glucosidase (GAA) enzyme that catabolizes lysosomal glycogen.
Barry J. Byrne, Giancarlo Parenti, Giancarlo Parenti, Benedikt Schoser, Ans T. van der Ploeg, Hung Do, Brian Fox, Mitchell Goldman, Franklin K. Johnson, Jia Kang, Nickita Mehta, John Mondick, M. Osman Sheikh, Sheela Sitaraman Das, Steven Tuske, Jon Brudvig, Jill M. Weimer, Tahseen Mozaffar   +17 more
doaj   +1 more source

Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

BMC Medical Genetics, 2019
Background Pompe disease is a lysosomal storage disorder caused by the deficiency of acid alpha-glucosidase (EC. 3.2.1.20) due to mutations in human GAA gene.
Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R. Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti   +12 more
doaj   +1 more source