Results 11 to 20 of about 19,271 (154)

Late-onset Pompe’s disease in pediatrics: results from an Italian national survey on 38 patients and proposal of a targeted diagnostic algorithm [PDF]

Orphanet Journal of Rare Diseases
Background Late-onset Pompe’s disease (LOPD) is a progressive treatable metabolic myopathy due to partial acid α-glucosidase (GAA) deficiency, with potential onset during the pediatric age.
Marco Spada, Serena Gasperini, Massimiliano Filosto, Guja Astrea, Beatrice Bracci, Claudio Bruno, Alberto Burlina, Anna Cavallini, Daniela Concolino, Viola Crescitelli, Adele D’Amico, Federica Deodato, Carlo Dionisi-Vici, Maria Alice Donati, Simona Fecarotta, Rita Fischetto, Agata Fiumara, Francesca Furlan, Vincenza Gragnaniello, Damiano Mala, Monica Marica, Francesca Menni, Veronica Pagliardini, Claudia Panicucci, Giancarlo Parenti, Andrea Pession, Federica Ricci, Valentina Rovelli, Michele Sacchini, Filippo Maria Santorelli, Lucia Santoro, Maurizio Scarpa, Roberta Taurisano, Albina Tummolo, Francesco Porta   +34 more
doaj   +2 more sources

Dysregulation of multiple facets of glycogen metabolism in a murine model of Pompe disease. [PDF]

PLoS ONE, 2013
Pompe disease, also known as glycogen storage disease (GSD) type II, is caused by deficiency of lysosomal acid α-glucosidase (GAA). The resulting glycogen accumulation causes a spectrum of disease severity ranging from a rapidly progressive course that ...
Kristin M Taylor, Elizabeth Meyers, Michael Phipps, Priya S Kishnani, Seng H Cheng, Ronald K Scheule, Rodney J Moreland   +6 more
doaj   +1 more source

Pompe Disease: New Developments in an Old Lysosomal Storage Disorder

Biomolecules, 2020
Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen ...
Naresh K. Meena, Nina Raben
doaj   +1 more source

Glycogen storage disease types I and II: Treatment updates [PDF]

Journal of Inherited Metabolic Disease, 2007
AbstractPrior to 2006 therapy for glycogen storage diseases consisted primarily of dietary interventions, which in the case of glycogen storage disease (GSD) type II (GSD II; Pompe disease) remained essentially palliative. Despite improved survival and growth, long‐term complications of GSD type I (GSD I) have not responded to dietary therapy with ...
D D, Koeberl, P S, Kishnani, Y T, Chen
openaire   +2 more sources

Brain Damage in Glycogen Storage Disease Type I

Pediatric Neurology Briefs, 2004
The occurrence of brain damage in 19 patients (13 girls and 6 boys) with glycogen storage disease type I (GSDI) was evaluated at the Universita “Federico II”, Naples, Italy.
J Gordon Millichap
doaj   +1 more source

Rare case of type II glycogen storage disease [PDF]

Research Result. MEDICINE AND PHARMACY SERIES, 2015
The article presents information about a rare case of Pompe disease. It is a glycogen storage disease. During the third screening of a pregnant woman, the ultrasonography of the fetus’s heart revealed the myocardial hypertrophy of the left ventricle perceived as posthypoxic. After delivery, the newborn underwent the ultrasound examination and molecular
Nagorniy, V. A., Trunova, R. B., Mukhina, T. S., Khabibullin, R. R., Tverskoi, A. V.   +4 more
openaire   +3 more sources

Current pharmacotherapy and diagnostic methods of Pompe Disease in Poland

Journal of Education, Health and Sport, 2019
Pompe disease is estimated to happen in 1 out of 40 000 borns. It is rare metabolic disease connected to autosomal recessive genetic mutation. Disease is characterised by deficit of α-glucosidase (GAA) which is lysosomal glycogen hydrolizing enzyme acid.
Dominika Anna Janeczko, Anna Orzeł, Barbara Klatka, Magdalena Hołowczuk, Grzegorz Szlichta   +4 more
doaj   +3 more sources

Glycogen storage disease type II in the Lapland dog

Veterinary Quarterly, 1985
A newly recognized inherited metabolic disease in the Lapland dog is described. The metabolic defect is a deficiency of acid-alpha-glucosidase, a lysosomal hydrolase. The clinical picture is dominated by vomiting related to megaoesophagus, and progressive muscle weakness leading to exhaustion and death before two years of age. Cardiac abnormalities are
Walvoort, HC
openaire   +4 more sources

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

Uptake of moss‐derived human recombinant GAA in Gaa−/− mice

JIMD Reports, 2021
Pompe disease, an autosomal recessive lysosomal storage disorder, is caused by deficiency of lysosomal acid alpha‐glucosidase (GAA). On cellular level, there is lysosomal‐bound and free accumulation of glycogen and subsequent damage of organelles and ...
Stefan Hintze, Paulina Dabrowska‐Schlepp, Birgit Berg, Alexandra Graupner, Andreas Busch, Andreas Schaaf, Benedikt Schoser, Peter Meinke   +7 more
doaj   +1 more source