Italian
Albanian
Arabic
Armenian
Azerbaijani
Belarusian
Bengali
Bosnian
Catalan
Czech
Danish
Deutsch
Dutch
English
Estonian
Finnish
Français
Greek
Haitian Creole
Hebrew
Hindi
Hungarian
Icelandic
Indonesian
Irish
Italian
Japanese
Korean
Latvian
Lithuanian
Macedonian
Mongolian
Norwegian
Persian
Polish
Portuguese
Romanian
Russian
Serbian
Slovak
Slovenian
Spanish
Swahili
Swedish
Turkish
Ukrainian
Vietnamese
Български
中文(简体)
中文(繁體)
glycogen storage disease type iv/astenia
Il collegamento viene salvato negli appunti
11 risultati
Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
An adult case of Andersen's disease--Type IV glycogenosis. A clinical, histochemical, ultrastructural and biochemical study.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
A middle-aged man presented with a thirty-year history of progressive, asymmetrical limb-girdle weakness. The muscle biopsy revealed a vacuolar myopathy. The vacuoles which did not disrupt the fibre outline, lay in a subsarcolemmal position. They were PAS-positive and the material was partially
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Glycogen storage disease type IV (Andersen disease) is a rare metabolic disorder characterized by deficient glycogen branching enzyme activity resulting in abnormal, amylopectin-like glycogen deposition in multiple organs. This article reports on an infant with the congenital neuromuscular subtype
Glycogen storage disease type IV: dilated cardiomyopathy as the isolated initial presentation in an adult patient.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Glycogen storage disease type IV (GSD IV, Andersen disease) is a rare autosomal recessive condition. The childhood neuromuscular subtype of GSD IV is characterised by a progressive skeletal myopathy with cardiomyopathy also reported in some individuals. We report a case of a 19-year-old man who
A novel GBE1 gene variant in a child with glycogen storage disease type IV.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Glycogen storage disease type IV is an autosomal recessive disorder of carbohydrates caused by deficiency of amylo-1-4-glycanoglycosyltransferase, which leads to accumulation of amylopectin-like polysaccharides in tissues including liver, heart and neuromuscular system. More than 40 different
A novel neuromuscular form of glycogen storage disease type IV with arthrogryposis, spinal stiffness and rare polyglucosan bodies in muscle.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Glycogen storage disease type IV (GSD IV) is an autosomal recessive disorder causing polyglucosan storage in various tissues. Neuromuscular forms present with fetal akinesia deformation sequence, lethal myopathy, or mild hypotonia and weakness. A 3-year-old boy presented with arthrogryposis, motor
Evaluation of allele frequencies of inherited disease genes in subgroups of American Quarter Horses.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
OBJECTIVE
To estimate allele frequencies of the hyperkalaemic periodic paralysis (HYPP), lethal white foal syndrome (LWFS), glycogen branching enzyme deficiency (GBED), hereditary equine regional dermal asthenia (HERDA), and type 1 polysaccharide storage myopathy (PSSM) genes in elite performance
Equine diseases caused by known genetic mutations.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
The recent development of equine genome maps by the equine genome community and the complete sequencing of the horse genome performed at the Broad Institute have accelerated the pace of genetic discovery. This review focuses on genetic diseases in the horse for which a mutation is currently known,
Polyglucosan body myopathy: a new case.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
We report a 51-yr-old woman with late-onset progressive weakness affecting proximal limb muscles. Muscle biopsy revealed a vacuolar myopathy with accumulation of amylopectin-like polysaccharide resembling the polyglucosan found in type IV glycogenosis and adult-onset polyglucosan body disease. A
New insights in the field of muscle glycogenoses.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
OBJECTIVE
This review highlights recent contributions regarding clinical heterogeneity, pathogenic mechanisms, therapeutic trials, and animal models of the muscle glycogenoses.
RESULTS
Most recent publications have dealt with the clinical effects of enzyme replacement therapy (ERT) in glycogenosis
Glycogen Storage Disorder due to Glycogen Branching Enzyme (GBE) Deficiency: A Diagnostic Dilemma.
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Glycogen branching enzyme deficiency/Andersen disease can manifest with a spectrum of clinical phenotypes, making the diagnosis difficult. An 11-year-old Pakistani boy presented with a history of progressive weakness and delayed milestones. Echocardiography showed features of dilated cardiomyopathy.
Il database di erbe medicinali più completo supportato dalla scienza
- Funziona in 55 lingue
- Cure a base di erbe sostenute dalla scienza
- Riconoscimento delle erbe per immagine
- Mappa GPS interattiva - tagga le erbe sul luogo (disponibile a breve)
- Leggi le pubblicazioni scientifiche relative alla tua ricerca
- Cerca le erbe medicinali in base ai loro effetti
- Organizza i tuoi interessi e tieniti aggiornato sulle notizie di ricerca, sperimentazioni cliniche e brevetti
Digita un sintomo o una malattia e leggi le erbe che potrebbero aiutare, digita un'erba e osserva le malattie ei sintomi contro cui è usata.
* Tutte le informazioni si basano su ricerche scientifiche pubblicate
