Keywords: بیماری Canavan; Canavan disease; Microcephaly; N-acetylaspartic acid (NAA);
مقالات ISI بیماری Canavan (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Design and optimization of aspartate N-acetyltransferase inhibitors for the potential treatment of Canavan disease
Keywords: بیماری Canavan; ANAT; aspartate N-acetyltransferase; CD; Canavan disease; DCM; dichloromethane; DTNB; dithionitrobenzoate; EDCl; 1-ethyl-3-(3-(dimethylamino)propyl)carbodiimide; HEPES; 4-(2-hydroxyethyl)piperazine-1-ethanesulfonic acid; IPTG; isopropyl-β-thiogalactoside
Purification and characterization of aspartate N-acetyltransferase: A critical enzyme in brain metabolism
Keywords: بیماری Canavan; Canavan disease; aspartate N-acetyltransferase; membrane protein; enzyme kinetics; enzyme purification;
N-acetylaspartate supports the energetic demands of developmental myelination via oligodendroglial aspartoacylase
Keywords: بیماری Canavan; N-acetylaspartate; Aspartoacylase; Canavan disease; Myelination; Energy;
Joint SOGC-CCMG Opinion for Reproductive Genetic Carrier Screening: An Update for All Canadian Providers of Maternity and Reproductive Healthcare in the Era of Direct-to-Consumer Testing
Keywords: بیماری Canavan; Carrier screening; prenatal screening; autosomal recessive disorder; autosomal dominant disorder; X-linked disorder; thalassemia; hemoglobinopathy; cystic fibrosis; Duchenne/Becker muscular dystrophy; Fragile X; spinal muscular atrophy; Tay-Sachs disease;
Opinion commune de la SOGC et du CCGM sur le dépistage génétique en contexte de procréation : Mise à jour à l'intention de l'ensemble des prestataires canadiens de soins de santé maternelle et de services en procréation, à l'ère des tests offerts dire
Keywords: بیماری Canavan; Carrier screening; prenatal screening; autosomal recessive disorder; autosomal dominant disorder; X-linked disorder; thalassemia; hemoglobinopathy; cystic fibrosis; Duchenne/Becker muscular dystrophy; Fragile X; spinal muscular atrophy; Tay-Sachs disease;
Canavan disease: An Arab scenario
Keywords: بیماری Canavan; (AAV); adeno-associated viral vector; (CNS); central nervous system; SIFT; http://sift.jcvi.org/; ASPA; aspartoacylase; CD; Canavan disease; (NAA); N-acetyl-l-aspartate; PolyPhen2; polymorphism phenotyping v2, http://genetics.bwh.harvard.edu; TRPV3; trans
Canavan disease, a rare early-onset human spongiform leukodystrophy: Insights into its genesis and possible clinical interventions
Keywords: بیماری Canavan; Canavan disease; Hypoacetylaspartia; N-acetylaspartate; N-acetyl-l-aspartylglutamate; Aspartoacylase; Brain; Ac; acetate; AcCoA; acetylcoenzyme A; Asp; aspartate; AQP4; aquaporin 4; ASPA; aspartoacylase; CD; Canavan disease; CSF; cerebrospinal fluid; DWI;
Expression of aspartoacylase (ASPA) and Canavan disease
Keywords: بیماری Canavan; ASPA, aspartoacylase; CD, Canavan disease; NAA, N-acetyl-L-aspartic acid; qPCR, quantitative real-time PCR; RT-PCR, reverse transcription PCRAminoacylase; Aspartoacylase; Canavan disease; Organic aciduria; Inborn error of metabolism; N-acetyl-l-aspartic a
A safety trial of high dose glyceryl triacetate for Canavan disease
Keywords: بیماری Canavan; Canavan disease; Aspartoacylase deficiency; ASPA; Glyceryltriacetate; GTA; Safety
Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease
Keywords: بیماری Canavan; Canavan disease; Aspartoacylase; Mutation
Lithium citrate reduces excessive intra-cerebral N-acetyl aspartate in Canavan disease
Keywords: بیماری Canavan; Canavan disease; NAA; Lithium
Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination
Keywords: بیماری Canavan; Oligodendrocytes; Neural cells; Development; Canavan disease; Aspartoacylase; Leukodystrophy
A new T677C mutation of the aspartoacylase gene encodes for a protein with no enzymatic activity
Keywords: بیماری Canavan; Canavan disease; N-acetylaspartate; N-acetylaspartoacylase; T677C mutation; Site-directed mutagenesis
Rapid detection of three large novel deletions of the aspartoacylase gene in non-Jewish patients with Canavan disease
Keywords: بیماری Canavan; Aspartoacylase gene; Canavan disease; Large deletion; Human
Carrier Screening for Genetic Disorders in Individuals of Ashkenazi Jewish Descent
Keywords: بیماری Canavan; Carrier Screening; Ashkenazi Jews; Canavan disease; Tay-Sachs disease; familial dysautonomia;
Dépistage des porteurs de troubles génétiques chez les personnes d'origine juive ahkénaze
Keywords: بیماری Canavan; Carrier Screening; Ashkenazi Jews; Canavan disease; Tay-Sachs disease; familial dysautonomia;
Aspartoacylase gene knockout results in severe vacuolation in the white matter and gray matter of the spinal cord in the mouse
Keywords: بیماری Canavan; BCD; Basis cornus dorsalis; CACD; Caput cornus dorsalis; CC; Central canalis; CD; Cornu dorsalis; CCD; Cervix cornus dorsalis; CL; cornu laterale; CV; Cornu ventrale; FD; Funiculus dorsalis; FL; Funiculus lateralis; FV; Funiculus ventralis; ND; Nuc. Dorsa
Simultaneous high performance liquid chromatographic separation of purines, pyrimidines, N-acetylated amino acids, and dicarboxylic acids for the chemical diagnosis of inborn errors of metabolism
Keywords: بیماری Canavan; Inborn errors of metabolism; Purines; Pyrimidines; N-acetylated amino acids; Dicarboxylic acids; HPLC; Chemical diagnosis; Prenatal and neonatal screening; Biological fluids; Canavan disease;