Results 91 to 100 of about 130,693 (343)

Biochemical investigations in glycogen storage disease

The Turkish Journal of Pediatrics, 1963
Two cases of glycogenosis are reported and the clinical and biochemical aspects of the disease are discussed.
P Ozand, M Onay, S Balci, S Amiri
doaj  

Protective effects of Ziziphus Jujube on clinical and paraclinical findings of glycogen storage disease Ib, a case report and literature review [PDF]

Journal of Advanced Biomedical Sciences, 2017
Background & Objectives: Glycogen storage disease type Ib is a metabolic disease of carbohydrate metabolism. Patients suffer from metabolic disorders as a result of insufficient production of glucose from glycogen, and recurrent infections due to ...
shahsanam Geibi, hadi esamili govarchin galeh, bahman mansori motlagh   +2 more
doaj  

Isolated glycogen storage disease of the heart

Российский кардиологический журнал, 2019
Isolated glycogen storage disease of the heart (PRKAG2 syndrome) is a form of glycogenosis, which is characterized by left ventricular hypertrophy, similar to the phenotype of hypertrophic cardiomyopathy, associated with pre-excitation of the ventricles ...
S. M. Komissarova, N. M. Rineiskaya, N. N. Chakova, S. S. Niyazova, L. I. Plashchinskaya   +4 more
doaj   +1 more source

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Annals of Clinical and Translational Neurology, 2020
Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched ...
Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder, Jordan W. Strober, Mitchell A. Sullivan, Yunlin Xue, Cody S. Bennett, Ami M. Perri, Bret M. Evers, Peter J. Roach, Anna A. Depaoli‐Roach, H. Orhan Akman, Bartholomew A. Pederson, Berge A. Minassian   +14 more
doaj   +1 more source

Sonographic findings in type I glycogen storage disease

, 2001
PURPOSE: The aim of this study was to document the sonographic appearance and dimensions of the liver and spleen in patients affected by type I glycogen storage disease and to correlate those findings with laboratory data to evaluate the potential role ...
L. Fiori, A. Botta, C. Melgara, C. Pozzato, M.L. Giannì, E. Riva   +5 more
core   +1 more source

Chimerism after Liver Transplantation for Type IV Glycogen Storage Disease and Type 1 Gaucher's Disease [PDF]

, 1993
Background: Liver transplantation for type IV glycogen storage disease (branching-enzyme deficiency) results in the resorption of extrahepatic deposits of amylopectin, but the mechanism of resorption is not known.
Kendall, Ross S, Ricordi, C, Kendall, RS, Zeevi, Adriana, Starzl, Thomas E, Van Thiel, David, Zeevi, A, Trucco, M, Terasaki, Paul I, Demetris, Anthony J, Ildstad, S, Kocova, M, Ricordi, Camillo, Van Thiel, D, Trucco, Massimo, Kocoua, M, Terasaki, PI, Murase, Noriko, Starzl, TE, Demetris, AJ, Ildstad, Suzanne, Rudert, WA, Kocova, Mirjana, Murase, N, Rudert, William A   +24 more
core   +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

Bezafibrate induces autophagy and improves hepatic lipid metabolism in glycogen storage disease type Ia

Human Molecular Genetics, 2018
Glucose‐6‐phosphatase &agr; (G6Pase) deficiency, also known as von Gierke's Disease or Glycogen storage disease type Ia (GSD Ia), is characterized by decreased ability of the liver to convert glucose‐6‐phosphate to glucose leading to glycogen ...
Lauren R. Waskowicz, Jin Zhou, Dustin J. Landau, E. Brooks, Andrea Lim, Zollie Yavarow, T. Kudo, Haoyue Zhang, Yajun Wu, Stuart Grant, S. Young, B. B. Huat, P. Yen, D. Koeberl   +13 more
semanticscholar   +1 more source

Delayed Diagnosis of Glycogen Storage Disease Type III

, 2012
A case of a delayed diagnosis in adult age of a glycogen storage disease type III is ...
Flavio Faletra, Cont, Gabriele, Paolo Gasparini, MAGGIORE, Giuseppe, Martelossi, Stefano, Cunto, Angela De, Gasparini, Paolo, Angela De Cunto, Denise Cassandrini, Minen, Federico, Cassandrini, Denise, Federico Minen, Faletra, Flavio, Alessandro Ventura, Stefano Martelossi, Giuseppe Maggiore, Ventura, Alessandro, Gabriele Cont   +17 more
core   +1 more source

Beyond the label: Rethinking off‐label drug use in paediatrics. Towards a scientifically grounded and safer future for paediatric pharmacotherapy

British Journal of Clinical Pharmacology, EarlyView.
Abstract Despite regulatory progress being made in the past two decades, off‐label drug use in paediatrics remains pervasive, with prevalence estimated between 3% and 97% of prescriptions across different clinical settings. Off‐label use—defined as prescribing outside the conditions described in the Summary of Product Characteristics (SmPC)—is often ...
Tjitske M. van der Zanden, Miriam G. Mooij, Matthijs de Hoog, Saskia N. de Wildt   +3 more
wiley   +1 more source