Keywords: اختلال مادرزادی گلیسوزیله شدن; ALT; alanine transaminase; AST; aspartate transaminase; CDG; congenital disorder of glycosylation; GSD; glycogen storage disease; IEF; isoelectric focusing; LFT; liver function tests; MS; mass spectrometry; NGS; next generation sequencing; PAS; Periodic a
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Keywords: اختلال مادرزادی گلیسوزیله شدن; Congenital disorder of glycosylation; Myasthenia; Myopathy;
Keywords: اختلال مادرزادی گلیسوزیله شدن; CTP; cytosine triphosphate; EDTA; ethylenediaminetetraacetic acid; HEPES; 4-(2-hydroxyethyl)-1-piperazineethanesulfonic acid; Congenital disorder of glycosylation; DOLK-CDG; Dolichol kinase deficiency; Renal failure; Hepatic dysfunction; Insulin-resistant
Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency
Keywords: اختلال مادرزادی گلیسوزیله شدن; N-glycanase; Glycosylation; N-glycanase deficiency; NGLY1; Oligosaccharide screening; Biochemical screening; Biomarker identification; NGLY1; N-glycanase; MALDI-TOF; matrix assisted laser desorption time of flight; CDG; congenital disorder of glycosylatio
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency
Keywords: اختلال مادرزادی گلیسوزیله شدن; PGM1; phosphoglucomutase-1; G1P; glucose-1-phosphate; CDG; congenital disorder of glycosylation; CDG-I; CDG type-1; CDG-II; CDG type-2; MS; mass spectrometry; TIEF; transferrin isoelectric focusing; ApoC-III; apolipoprotein C-III; IEF; isoelectric focusin
Further delineation of COG8-CDG: A case with novel compound heterozygous mutations diagnosed by targeted exome sequencing
Keywords: اختلال مادرزادی گلیسوزیله شدن; Congenital disorder of glycosylation; COG8; CDG-IIh; Cerebellar atrophy;
Exome sequence identified a c.320AÂ >Â G ALG13 variant in a female with infantile epileptic encephalopathy with normal glycosylation and random X inactivation: Review of the literature
Keywords: اختلال مادرزادی گلیسوزیله شدن; Congenital disorder of glycosylation; CDG Is; ALG13; X-inactivation;
A founder mutation underlies a severe form of phosphoglutamase 3 (PGM3) deficiency in Tunisian patients
Keywords: اختلال مادرزادی گلیسوزیله شدن; PGM3 deficiency; Congenital disorder of glycosylation; Glu340del founder mutation; Consanguinity;
Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib
Keywords: اختلال مادرزادی گلیسوزیله شدن; CHAPS; 3-[(3-cholamidopropyl)dimethylammonio]-1-propanesulfonate; CDG; congenital disorder of glycosylation; DHR; dihydrorhodamine; E. coli; Escherichia coli; EDTA; ethylenediaminetetraacetic acid; FICT; fluorescein isothiocyanate; fMLP; formyl-methionyl-
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1Â Deficiency
Keywords: اختلال مادرزادی گلیسوزیله شدن; congenital disorder of glycosylation; congenital malformation; cleft palate; bifid uvula; dilated cardiomyopathy; hypoglycemia; myopathy; small stature; hormonal deficiency; coagulopathy; hepatopathy; CDG; Congenital disorder of glycosylation; HSD; Honest
Key features and clinical variability of COG6-CDG
Keywords: اختلال مادرزادی گلیسوزیله شدن; ALP; alkaline phosphatase; αFP; alpha fetoprotein; ASD; atrial septum defect; BAEP; auditory evoked brain stem potential; CDG; congenital disorder(s) of glycosylation; CHO; Chinese hamster ovary; CK; creatine kinase; CMV; cytomegalovirus; COG; conserved
Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors
Keywords: اختلال مادرزادی گلیسوزیله شدن; PIGT-CDG; Congenital disorder of glycosylation; Glycosylphosphatidylinositol anchor; Phenotype; Flow cytometry; Exome;
Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG
Keywords: اختلال مادرزادی گلیسوزیله شدن; ASAT; aspartate amino transferase; ALAT; alanine amino transferase; CDG; congenital disorder of glycosylation; CK; creatine kinase; GSD; glycogen storage disease; GALT; galactose phosphate uridyl transferase; GALE; galactose phosphate 4 epimerase; OGTT; o
N-Linked glycan site occupancy impacts the distribution of a potassium channel in the cell body and outgrowths of neuronal-derived cells
Keywords: اختلال مادرزادی گلیسوزیله شدن; Kv channel; voltage-gating potassium channel; CB; cell body; OG; outgrowth; CDG; congenital disorder of glycosylation; TIRF; total internal reflection fluorescence; DIC; differential interference contrast; Neu; neuraminidase; N-glycosylation; Potassium ch
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment
Keywords: اختلال مادرزادی گلیسوزیله شدن; Atopy; immune deficiency; hyper-IgE; neurocognitive impairment; phosphoglucomutase 3; glycosylation; allergy; autoimmunity; APC; Allophycocyanin; CDG; Congenital disorder of glycosylation; CFSE; Carboxyfluorescein succinimidyl ester; DOCK8; Dedicator of c
Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy
Keywords: اختلال مادرزادی گلیسوزیله شدن; CDG; congenital disorder of glycosylation; DPM; dolichol-P-mannose synthase; DLO; dolichol-linked oligosaccharides; ER; endoplasmic reticulum; CK; creatine kinase; MRI; magnetic resonance imaging; EEG; electroencephalogram; CGH; comparative genomic hybrid
Congenital disorder of glycosylation type Ic: Report of a Japanese case
Keywords: اختلال مادرزادی گلیسوزیله شدن; Congenital disorder of glycosylation; CDG-Ic; ALG6; Glucosyltransferase; Transferrin; Psychomotor retardation; Antithrombin III
Severe ALG8-CDG (CDG-Ih) associated with homozygosity for two novel missense mutations detected by exome sequencing of candidate genes
Keywords: اختلال مادرزادی گلیسوزیله شدن; CDG-Ih; ALG8; Congenital disorder of glycosylation; ALG8-CDG; Exome sequencing;
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
Keywords: اختلال مادرزادی گلیسوزیله شدن; Non-immune hydrops fetalis; In utero fetal death; Congenital disorder of glycosylation; Prenatal diagnosis; Fetal pathology;
Different neuroradiological findings during two stroke-like episodes in a patient with a congenital disorder of glycosylation type Ia
Keywords: اختلال مادرزادی گلیسوزیله شدن; Congenital disorder of glycosylation; Stroke-like episode; MRI; Ischemic stroke; Epilepsy
Cutis laxa with frontoparietal cortical malformation: A novel type of congenital disorder of glycosylation
Keywords: اختلال مادرزادی گلیسوزیله شدن; Congenital disorder of glycosylation; Cutis laxa; Isoelectrofocusing; Tf; Apolipoprotein C-III; Polymicrogyria
Pericardial and abdominal fluid accumulation in Congenital Disorder of Glycosylation type Ia
Keywords: اختلال مادرزادی گلیسوزیله شدن; Ascites; Interleukins; Therapy; Inflammation; Pericardial effusion; Congenital Disorder of Glycosylation
Clinical and biochemical features in a Congolese infant with congenital disorder of glycosylation (CDG)-IIx
Keywords: اختلال مادرزادی گلیسوزیله شدن; CDG-II; Congenital disorder of glycosylation; Congolese; MALDI-TOF; N-glycan; Transferrin isoelectrofocusingCDG, congenital disorder(s) of glycosylation; IEF, isoelectrofocusing; Tf, transferrin
Complex oligosaccharides are N-linked to Kv3 voltage-gated K+ channels in rat brain
Keywords: اختلال مادرزادی گلیسوزیله شدن; Kv; voltage-gated K+ channel; Endo H; Endoglycosidase H; CDG; Congenital disorders of glycosylation; PNGase F; peptide N glycosidase F; Glycosylation; Topology; K+ channel; Brain; Congenital disorder of glycosylation;
Congenital disorder of glycosylation (CDG)-Ih patient with a severe hepato-intestinal phenotype and evolving central nervous system pathology
Keywords: اختلال مادرزادی گلیسوزیله شدن; AAT; α-1-antitrypsin; CDG; congenital disorder of glycosylation; CNS; central nervous system; CST; castanospermine; Dol-P; dolichyl-phosphate; Glc; glucose; GlcNAc; N-acetylglucosamine; HS; heparan sulfate; LLO; lipid-linked oligosaccharide; Man; mannose
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics
Keywords: اختلال مادرزادی گلیسوزیله شدن; ApoC-III; apolipoproteinC-III; CDG; congenital disorders of glycosylation; UDP-Gal; uridine 5â²diphosphogalactose; Gal; galactose; GalNAc; N-acetylgalactosamine; CMP-NeuAc; cytidine 5â² monophospho-N-acetylneuraminic acid; NeuAc; N-acetylneuraminic acid