Solo gli utenti registrati possono tradurre articoli
Entra registrati
Tay-Sachs disease is an autosomal recessive neurodegenerative disease resulting from a block in the hydrolysis of GM2 ganglioside, an intermediate in ganglioside catabolism. The mouse model of Tay-Sachs disease (Hexa -/-) has been described as behaviorally indistinguishable from wild type until at
Solo gli utenti registrati possono tradurre articoli
Entra registrati
We have generated mouse models of human Tay-Sachs and Sandhoff diseases by targeted disruption of the Hexa (alpha subunit) or Hexb (beta subunit) genes, respectively, encoding lysosomal beta-hexosaminidase A (structure, alpha) and B (structure, beta beta). Both mutant mice accumulate GM2 ganglioside
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Tay-Sachs disease belongs to the group of autosomal-recessive lysosomal storage metabolic disorders. This disease is caused by β-hexosaminidase A (HexA) enzyme deficiency due to various mutations in α-subunit gene of this enzyme, resulting in GM2 ganglioside accumulation predominantly in lysosomes
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Proximal lower limb weakness and fasciculations were the only clinical manifestations of hexosaminidase A (Hex A) deficiency in a 39-year-old woman. Hex A activity in serum and leukocytes was 0 to 4% by standard heat inactivation fluorogenic substrate methods, and 5% when Hex A isoenzymes were
Solo gli utenti registrati possono tradurre articoli
Entra registrati
A 24-year-old Ashkenazi Jewish man was evaluated for a nine-year history of progressive leg weakness with fasciculations. Electromyography, nerve conduction velocities, muscle biopsy, and serum creatine kinase were consistent with anterior horn cell disease. On rectal biopsy, ganglion cells were
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Sphingolipidoses are an heterogeneous group of inherited disorders of lipid metabolism affecting primarily the central nervous system. These disorders occur chiefly in the pediatric population, and the degenerative nature of the disease processes is generally characterized by diffuse and progressive
Solo gli utenti registrati possono tradurre articoli
Entra registrati
OBJECTIVE
Abnormalities of axonal excitability characterized by upregulation of persistent sodium (Na+) conductances and reduced potassium (K+) currents have been reported in sporadic amyotrophic lateral sclerosis (SALS) phenotypes and linked to the development of clinical features such as
Solo gli utenti registrati possono tradurre articoli
Entra registrati
BACKGROUND
No direct comparison between brucellar spondylodiscitis (BSD) and tuberculous spondylodiscitis (TSD) exists in the literature.
OBJECTIVE
This study aimed to compare directly the clinical features, laboratory and radiological aspects, treatment, and outcome data of patients diagnosed as
Solo gli utenti registrati possono tradurre articoli
Entra registrati
Clinical characteristics: HEXA disorders are best considered as a disease continuum based on the amount of residual beta-hexosaminidase A (HEX A) enzyme activity. This, in turn, depends on the molecular characteristics and
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