Rivista di formazione e aggiornamento professionale del pediatra e del medico di base, fondata nel 1982. In collaborazione con l'Associazione Culturale Pediatri.
Login Abbonamenti Pubblicazioni Carrello Registrazione FAQ Contatti

alpha-Glucosidases

Enzymes and Coenzymes Enzymes Hydrolases Glycoside Hydrolases Glucosidases alpha-Glucosidases

3 articoli — 2014-2021

EL Caso contributivo
IperCKemia asintomatica: la malattia di Pompe late-onset

Borelli E, Casciana ML, Salemi C, Sordelli S, Fasoli S

2021/4 — pag. 105-108 — DOI

The paper reports the case of a 7-year-old boy who presented with elevated alanine and aspartate transaminases. Further investigations demonstrated elevated creatine kinase (CK), so an underlying metabolic disorder was investigated even in absence of...

RI Pagine elettroniche
Diagnosi di malattia di Pompe nel neonato

C. Amador, M. Sacchini, E. Agostini, E. Procopio, E. Laudani, P. Fiorini

2014/6 — pag. 397-399

Pompe disease is an autosomal recessive storage disorder caused by a deficiency in the enzyme α-glucosidase, resulting in intralysosomal glycogen accumulation in skeletal and cardiac muscle. The classic infantile form is characterized by progres...

EL Caso contributivo
Diagnosi di malattia di Pompe nel neonato

C. Amador, M. Sacchini, E. Agostini, E. Procopio, E. Laudani, P. Fiorini

2014/6

Pompe disease is an autosomal recessive storage disorder caused by a deficiency in the enzyme α-glucosidase, resulting in intralysosomal glycogen accumulation in skeletal and cardiac muscle. The classic infantile form is characterized by progres...

Argomenti correlati
Infant, Newborn (267) Neonatal Screening (109) Muscle Hypotonia (55) Delayed Diagnosis (51) Early diagnosis (50) Diagnosi precoce (25) Creatine kinase (24) Enzyme replacement therapy (20) Terapia enzimatica sostitutiva (14) Macroglossia (11) Glycogen Storage Disease (10) Cardiomyopathy, Hypertrophic (10) Hypertrophic cardiomyopathy (10) Cardiomiopatia ipertrofica (9) Malattia di Pompe (6) Pompe disease (6) Neuromuscular Diseases (5) Asymptomatic Diseases (4) HyperCKemia (4) Glycogen storage disease type II (4)