Results 101 to 110 of about 4,281 (208)

Expiratory phase lung mechanics in late-onset Pompe disease: a multicenter study using oscillometry to identify specific breathing abnormalities. [PDF]

Orphanet J Rare Dis
Crescimanno G, Marrone O, Lazzeri M, Banfi PI, Lax A, Compalati E, Di Marco R, Planiscig S, Confalonieri P, Seidita F, Brighina F, Confalonieri M.   +11 more
europepmc   +1 more source

Defects in synthesis, phosphorylation, and maturation of acid alpha-glucosidase in glycogenosis type II

, 1985
Glycogenosis type II is an inherited lysosomal storage disease with acid alpha-glucosidase deficiency as the primary defect. Using cultured skin fibroblasts, we have studied the biosynthesis of acid alpha-glucosidase in clinically different forms of this
Oude Elferink, R. P., Kroos, M., Reuser, A. J., Tager, J. M.   +3 more
core  

Simultaneous Liver-Kidney Transplantation from a Deceased Donor for Glycogen Storage Disease Type Ia: A Case Report. [PDF]

Surg Case Rep
Hirata Y, Sanada Y, Takadera K, Akimoto R, Omameuda T, Horiuchi T, Okada N, Wakiya T, Onishi Y, Sakuma Y, Yamaguchi H.   +10 more
europepmc   +1 more source

Hepatic Glycogenosis Resulting in Hyperammonemia in a Young Adult With Type 1 Diabetes Mellitus. [PDF]

JCEM Case Rep
Dinh CB, Ghaben AL, Newfield RS.
europepmc   +1 more source

Bovine glycogenosis type II. Biochemical and morphological characteristics of skeletal muscle in culture

, 1984
The biochemical and morphological properties of cultured skeletal muscle from calves born into a herd of cattle, which are heterozygous for glycogenosis type II, were studied over 17 days. Muscle was cultured by a modification of the explant technique in
Dorling, P.R., Howell, J.Mc.C., Di Marco, P.N.   +2 more
core  

Precision Therapeutics Through Bioactive Compounds: Metabolic Reprogramming, Omics Integration, and Drug Repurposing Strategies. [PDF]

Int J Mol Sci
Costanzo M, Roviello GN.
europepmc   +1 more source

Translational impact of machine learning-driven predictive modeling with pathway-based plasma metabolomic biomarkers for lung cancer detection. [PDF]

Front Oncol
Himdiat E, Haince JF, Bux RA, Huang G, Tappia PS, Ramjiawan B, Vaida M.   +6 more
europepmc   +1 more source

Understanding Glycogen Storage Disease Type IX: A Systematic Review with Clinical Focus-Why It Is Not Benign and Requires Vigilance. [PDF]

Genes (Basel)
Candela E, Montanari G, Zanaroli A, Baronio F, Ortolano R, Biasucci G, Lanari M.   +6 more
europepmc   +1 more source

Glicogenose hereditária em bovinos Brahman no Brasil : Inherited glycogenosis in Brahman cattle in Brazil

, 2014
An inherited disease of cattle, characterized by lysosomal storage of glycogen in several tissues, is reported. The disease was diagnosed in a Brahman herd in the municipality of Porto Lucena, Rio Grande do Sul, Brazil.
Dutra, V., Barros, S. S., Gimeno, Eduardo Juan, Göcks, M., Nakazato, L., Colodel, E. M., Zlotowski, P., Driemeier, D.   +7 more
core  

Epileptic seizures in cats: practical approaches to diagnosis. [PDF]

J Feline Med Surg
Sivolapenko D, Lowrie M.
europepmc   +1 more source