Results 31 to 40 of about 31,724,613 (234)

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

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

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

Hyperfiltration and renal disease in glycogen storage disease, type I [PDF]

, 1989
Hyperfiltration and renal disease in glycogen storage disease, type I. A prospective study of 14 patients (ages 6 months to 33 years) with glycogen storage disease, Type I (GSD-I) was carried out in order to define the character and frequency of renal ...
Goldfarb, Stanley, Stanley, Charles A., Joseph Egler, Baker, Lester, Dahlem, Stephen, Charles A. Stanley, Egler, Joseph, Kern, Elizabeth F.O., Stanley Goldfarb, Elizabeth F.O. Kern, Jerrold S. Olshan, Sidney Heyman, Olshan, Jerrold S., Heyman, Sidney, Lester Baker, Stephen Dahlem   +15 more
core   +1 more source

Molecular diagnosis of glycogen storage disease type I [PDF]

, 2019
Glycogen storage disease type I (GSD I) is a relatively rare metabolic disease with variable clinical intensity. It is caused by deficient activity of the glucose 6-phosphatase enzyme (GSD Ia) or a deficiency in the microsomal transport proteins for ...
Beyzaei, Zahra, Geramizadeh, Bita
core   +1 more source

Circulating lipids and lipoproteins in glycogen storage disease type I with nocturnal intragastric feeding.

Journal of Lipid Research, 1988
With the advent of nocturnal intragastric feeding which protects against acute metabolic complications and promotes growth, patients with glycogen storage disease type I are attracting less attention.
E Levy, L A Thibault, C C Roy, M Bendayan, G Lepage, J Letarte   +5 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

Association of the Congenital Neuromuscular Form of Glycogen Storage Disease Type IV With a Large Deletion and Recurrent Frameshift Mutation

, 2014
Anderson disease, also known as glycogen storage disease type IV (MIM 232500), is a rare autosomal recessive disorder caused by a deficiency of glycogen branching enzyme.
Li, Sing-Chung;Hwu, Wuh-Liang;Lin, Ju-Li;Bali, Deeksha S.;Yang, Chen;Chu, Shih-Ming;Chien, Yin-Hsiu;Chou, Hung-Chieh;Chen, Chien-Yi;Hsieh, Wu-Shiun;Tsao, Po-Nien;Chen, Yuan-Tsong;Lee, Ni-Chung, 胡務亮 ;謝武勳 ;李妮鍾 ;簡穎秀   +1 more
core   +1 more source