Results 21 to 30 of about 25,377 (250)

Identification and Characterization of a Novel Splice Site Mutation Associated with Glycogen Storage Disease Type VI in Two Unrelated Turkish Families

Diagnostics, 2021
Introduction: Glycogen storage disease type VI (GSD VI) is a disorder of glycogen metabolism due to mutations in the PYGL gene. Patients with GSD VI usually present with hepatomegaly, recurrent hypoglycemia, and short stature.
Sarah C. Grünert, Luciana Hannibal, Anke Schumann, Stefanie Rosenbaum-Fabian, Stefanie Beck-Wödl, Tobias B. Haack, Mona Grimmel, Miriam Bertrand, Ute Spiekerkoetter   +8 more
doaj   +1 more source

The Pathogenesis of Hyperuricemia in Glycogen Storage Disease, Type I [PDF]

Pediatric Research, 1977
After the infusion of fructose, 0.25 g/kg body weight, blood uric acid levels were significantly increased above the mean basal value in five patients with glycogen storage disease (GSD), type I (P less than 0.02-P less than 0.05). The mean fasting blood inorganic phosphate (Pi) level in the patients was 3.9 +/- 0.3 mg/100 ml and was significantly ...
T F, Roe, M D, Kogut
openaire   +2 more sources

A nationwide assessment of hepatocellular adenoma resection: Indications and pathological discordance

Hepatology Communications, EarlyView., 2022
Abstract Hepatocellular adenomas (HCAs) are benign liver tumors associated with bleeding or malignant transformation. Data on the indication for surgery are scarce. We analyzed indications and outcome of patients operated for HCAs < 50 mm compared to HCAs ≥ 50 mm. Changes in final postoperative diagnosis were assessed.
Martijn P. D. Haring, Arthur K. E. Elfrink, Christiaan A. J. Oudmaijer, Paul C. M. Andel, Alicia Furumaya, Nenke de Jong, Colin J. J. M. Willems, Thijs Huits, Julie M. L. Sijmons, Eric J. T. Belt, Koop Bosscha, Esther C. J. Consten, Mariëlle M. E. Coolsen, Peter van Duijvendijk, Joris I. Erdmann, Paul Gobardhan, Robbert J. de Haas, Tjarda van Heek, Hwai‐Ding Lam, Wouter K. G. Leclercq, Mike S. L. Liem, Hendrik A. Marsman, Gijs A. Patijn, Türkan Terkivatan, Babs M. Zonderhuis, Izaak Quintus Molenaar, Wouter W. te Riele, Jeroen Hagendoorn, Alexander F. M. Schaapherder, Jan N. M. IJzermans, Carlijn I. Buis, Joost M. Klaase, Koert P. de Jong, Vincent E. de Meijer, the Dutch Benign Liver Tumor Group, R. B. Takkenberg, J. Verheij, O. M. van Delden, J. I. Erdmann, B. V. van Rosmalen, A. Furumaya, G. Kazemier, D. Ramsoekh, J. N. M. IJzermans, R. A. de Man, M. D. Doukas, M. G. Thomeer, A. J. Klompenhouwer, A. F. M. Schaapherder, M. E. Tushuizen, M. J. Coenraad, A. S. L. P. Crobach, M. C. Burgmans, S. Feshtali, M. M. E. Coolsen, M. Kramer, J. C. Beckervordersandforth, I. V. Samarska, C. van der Leij, R. Miclea, J. H. W. de Wilt, P. B. van den Boezem, E. T. T. L. Tjwa, I. Munsterman, S. Vos, S. van Koeverden, V. E. de Meijer, F. J. C. Cuperus, R. J. de Haas, E. W. Duiker, M. P. D. Haring   +70 more
wiley   +1 more source

How could hypoglycemia-inducing glycogen storage disease lead to hyperglycemia-induced mucormycosis?

Autopsy and Case Reports, 2020
Mucormycosis is an increasingly frequent, difficult to diagnose, difficult to treat, often fatal infection, especially in patients with hyperglycemia from uncontrolled diabetes.
Larry Nichols, Diana Alejandra Rios
doaj   +1 more source

Implementation of Newborn Screening for Conditions in the United States First Recommended during 2010–2018

International Journal of Neonatal Screening, 2023
The Recommended Uniform Screening Panel (RUSP) is the list of conditions recommended by the US Secretary of Health and Human Services for inclusion in state newborn screening (NBS).
Sikha Singh, Jelili Ojodu, Alex R. Kemper, Wendy K. K. Lam, Scott D. Grosse   +4 more
doaj   +1 more source

Patients with glycogen storage diseases undergoing anesthesia: a case series

BMC Anesthesiology, 2017
Background Glycogen storage diseases are rare genetic disorders of glycogen synthesis, degradation, or metabolism regulation. When these patients are subjected to anesthesia, perioperative complications can develop, including hypoglycemia, rhabdomyolysis,
Carmelina Gurrieri, Juraj Sprung, Toby N. Weingarten, Mary E. Warner   +3 more
doaj   +1 more source

An Unusual Case of Neonatal Hypotonia and Femur Fracture: Neuromuscular Variant of Glycogen Storage Disease Type IV

Children, 2023
Glycogen storage disease type IV (GSD IV) (OMIM #232500) is an autosomal recessive disorder caused by deficiency of the glycogen-branching enzyme. Here, we report a patient presenting with prematurity and severe hypotonia resulting from a complicated ...
Handan Bezirganoglu, Kubra Adanur Saglam
doaj   +1 more source

Mutational analysis and clinical investigations of medically diagnosed GSD 1a patients from Pakistan.

PLoS ONE, 2023
Glycogen storage disease type I (GSD I) is a rare autosomal recessive inborn error of carbohydrate metabolism caused by the defects of glucose-6-phosphatase complex (G6PC).
Bushra Gul, Sabika Firasat, Tayyaba Shan, Raeesa Tehreem, Kiran Afshan   +4 more
doaj   +1 more source

Gene Therapy for Type I Glycogen Storage Diseases [PDF]

Current Gene Therapy, 2007
The type I glycogen storage diseases (GSD-I) are a group of related diseases caused by a deficiency in the glucose-6-phosphatase-alpha (G6Pase-alpha) system, a key enzyme complex that is essential for the maintenance of blood glucose homeostasis between meals.
Janice Y, Chou, Brian C, Mansfield
openaire   +2 more sources

Pulmonary Arterial Hypertension in Glycogen Storage Disease Type I

Journal of Inborn Errors of Metabolism and Screening, 2017
Pulmonary arterial hypertension (PAH) is a rare and highly fatal disease that has been reported in 8 patients with glycogen storage disease type I (GSDI).
Rachel D. Torok MD, Stephanie L. Austin MS, Lisa K. Britt RDCS, Jose E. Abdenur MD, Priya S. Kishnani MD, Stephanie B. Wechsler MD   +5 more
doaj   +1 more source