Results 51 to 60 of about 65,519 (325)

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

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

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

Identification of mutations that causes glucose-6-phosphate transporter defect in tunisian patients with glycogenosis type 1b

Diabetology & Metabolic Syndrome, 2023
Background Glycogen storage disease type 1b (GSD1b) is an autosomal recessive lysosomal storage disease caused by defective glucose-6-phosphate transporter encoded by SLC37A4 leading to the accumulation of glycogen in various tissues.
Latifa Chkioua, Yessine Amri, Chayma Sahli, Ferdawes Ben Rhouma, Amel Ben Chehida, Neji Tebib, Taieb Messaoud, Hassen Ben Abdennebi, Sandrine Laradi   +8 more
doaj   +1 more source

Mutation analysis of in a patient with glycogen storage disease-type Ib

Journal of International Medical Research, 2019
Objective The aim of the study was to investigate the relationship between SLC37A4 gene mutation and clinical phenotype in a patient with glycogen storage disease-type I.
Yamei Zhang, Huihui Sun, Naijun Wan
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

Beyond predicting diagnosis: Is there a role for measuring biotinidase activity in liver glycogen storage diseases?

Molecular Genetics and Metabolism Reports, 2022
Introduction: Biotinidase synthesis is needed to recycle biotin for essential metabolic reactions. Biotinidase activity is lower than normal levels in advanced liver disease but is higher in hepatic glycogen storage disorders (GSDs), however the cause of
Areeg El-Gharbawy, Adviye A. Tolun, Carine A. Halaby, Stephanie L. Austin, Priya S. Kishnani, Deeksha S. Bali   +5 more
doaj   +1 more source

Rag GTPases are cardioprotective by regulating lysosomal function. [PDF]

, 2014
The Rag family proteins are Ras-like small GTPases that have a critical role in amino-acid-stimulated mTORC1 activation by recruiting mTORC1 to lysosome.
Guan, Kun-Liang, Jewell, Jenna L, Kim, Young Chul, Mo, Jung-Soon, Park, Hyun Woo, Russell, Ryan C, Sadoshima, Junichi, Sciarretta, Sebastiano, Wu, Xiaohui   +8 more
core   +2 more sources

Programming Skeletal Muscle Metabolic Flexibility in Offspring of Male Rats in Response to Maternal Consumption of Slow Digesting Carbohydrates during Pregnancy [PDF]

, 2020
Skeletal muscle plays a relevant role in metabolic flexibility and fuel usage and the associated muscle metabolic inflexibility due to high-fat diets contributing to obesity and type 2 diabetes.
Andújar, Eloísa, Bueno Vargas, Pilar, Girón, María D., Manzano, Manuel, Martín, María J., Pérez Alegre, Mónica, Salto, Rafael, Vílchez, Jose D.   +7 more
core   +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, Barbosa, David, Fahlbusch, Pia, Herzfeld de Wiza, Daniella, Hörbelt, Tina, Knebel, Birgit, Kotzka, Jorg, Lapauw, Bruno, Müller-Wieland, Dirk, Ouwens, Margriet, Thoresen, G Hege, Van de Velde, Frederique, Van Nieuwenhove, Yves   +12 more
core   +1 more source