Results 101 to 110 of about 74,859 (354)
Cataract and optic disk drusen in a patient with glycogenosis and di George syndrome: clinical and molecular report [PDF]
, 2017 Background We report the ophthalmic findings of a patient with type Ia glycogen storage disease (GSD Ia), DiGeorge syndrome (DGS), cataract and optic nerve head drusen (ONHD).
Allegrini, D. +10 more
core +2 more sources
Rare case of type II glycogen storage disease [PDF]
, 2015 The article presents information about a rare case of Pompe disease. It is a glycogen storage disease. During the third screening of a pregnant woman, the ultrasonography of the fetus’s heart revealed the myocardial hypertrophy of the left ventricle ...
Khabibullin, R. R. +4 more
core +2 more sources
Annals of Hepatology, 2018 Glycogen storage disease type I and glycogenic hepatopathy are the most common type of primary and secondary hepatic glycogenosis, with presenting common radiological features of hepatomegaly, hepatic signal, or density change.
Zhi-yuan Chen +2 more
doaj
Hepatocyte Transplantation for Glycogen Storage Disease Type Ib
Cell Transplantation, 2007 Glycogen storage disease type I (GSD-I) is a group of autosomal recessive disorders with an incidence of 1 in 100,000. The two major subtypes are GSD-Ia, caused by a deficiency of glucose-6-phosphatase (G6Pase), and GSD-Ib, caused by a deficiency of ...
Kwang-Woong Lee +15 more
doaj +1 more source
The adipokine sFRP4 induces insulin resistance and lipogenesis in the liver [PDF]
, 2019 Secreted frizzled-related protein (sFRP) 4 is an adipokine with increased expression in white adipose tissue from obese subjects with type 2 diabetes and non-alcoholic fatty liver disease (NAFLD).
Al-Hasani, Hadi +12 more
core +1 more source
iMeta, EarlyView.The human body is inhabited by trillions of microorganisms that play a crucial role in health and diseases. Although our understanding of the species and functional composition of the human gut microbiome is rapidly expanding, species–function heterogeneity and dynamic activities in human microecosystem niches remain unclear.
Yifei Shen +21 more
wiley +1 more source
European Journal of Neurology, Volume 30, Issue 2, Page 399-412, February 2023., 2023 Abstract Background and purpose Clinical outcome information on patients with neuromuscular diseases (NMDs) who have been infected with SARS‐CoV‐2 is limited. The aim of this study was to determine factors associated with the severity of COVID‐19 outcomes in people with NMDs.
Chiara Pizzamiglio +93 more
wiley +1 more source
Brain Damage in Glycogen Storage Disease Type I
Pediatric Neurology Briefs, 2004 The occurrence of brain damage in 19 patients (13 girls and 6 boys) with glycogen storage disease type I (GSDI) was evaluated at the Universita “Federico II”, Naples, Italy.
J Gordon Millichap
doaj +1 more source
Neuropathological and neurochemical aspects of generalized glycogen storage disease [PDF]
, 1963 L. Crome, J. N. Cumings, S. K. Duckett
openalex +1 more source
Synthetic biology for medical biomaterials
Interdisciplinary Medicine, EarlyView.Synthetic biology platform has been utilized to produce a variety of medical biomaterials (MBMs), such as polylactic acid (PLA), polyhydroxyalkanoates (PHAs), hyaluronic acid (HA), collagen (COL), poly(β‐malic acid) (PMLA), poly‐γ‐glutamic acid (γ‐PGA), alginate (ALG), chitosan (CS), bacterial cellulose (BC), and antimicrobial peptides (AMPs).
Tao Xu +4 more
wiley +1 more source