دانلود مقالات ISI درباره Cdg + ترجمه فارسی

مدل های پیش بینی برای ارزیابی آنتوسیانین ها در توت های انگور با استفاده از سنسورهای فلورسانس: وابستگی به رقم، محل و فصل رشد

Prediction models for assessing anthocyanins in grape berries by fluorescence sensors: Dependence on cultivar, site and growing season

Keywords: Mx; multiplex; Chl; chlorophyll; ANTHR; log(1/Chl-fluorescence_R); ANTHRG; log(Chl-fluorescence_R/Chl-fluorescence_G); R; red light; G; green light; Anths; anthocyanins; CdG; Casale del Giglio; CB; Castello Banfi; ME; Merlot; PV; Petit Verdot; SH; Syrah;

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

بیماری های غدد درون ریز و متابولیک کودکان و پروتئومیک

Pediatric endocrine and metabolic diseases and proteomics

Keywords: Mass-spectrometry; Proteomics; Endocrinology; Children; Pediatrics; 17OHPG; 17-Hydroxyprogesterone; Apo; Apolipoprotein; CAH; Congenital Adrenal Hyperplasia; CDG; Congenital Disorders of Glycosylation; DHEAS; Dehydroepiandrosterone Sulfate; DN; Diabetic N

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2018 سفارش ترجمه

تهیه چسب های حساس به فشار از روغن تونگ از طریق واکنش دیلس آلدر

Preparation of pressure-sensitive adhesives from tung oil via Diels-Alder reaction

Keywords: BPAGDA; bisphenol A glycerolate diacrylate; CDG; conjugate diene group; DA reaction; Diels-Alder reaction; DG; dienophile group; MPMI; 4,4'-methylene-bis(N-phenylmaleimide); PET; polyethylene terephthalate; PPGDA; poly(propylene glycol) diacrylate; PSA;

دانلود رایگان متن کامل مقاله ISI 24 صفحه سال انتشار : 2017 سفارش ترجمه

گلیکوپروتئینهای التهابی در اختلالات قلب و عروق، بیماری های خود ایمنی و سرطان

Inflammatory glycoproteins in cardiometabolic disorders, autoimmune diseases and cancer

Keywords: 2-AB; 2-aminobanzamide; AFP; α-fetoprotein; AGP; α1-acid glycoprotein; BMI; body mass index; CDG; congenital disorders of glycosylation; CEA; carcinoembryonic antigen; CRP; C-reactive protein; CVD; cardiovascular disease; DAS28; Disease Activity Score b

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2016 سفارش ترجمه

نقص ژنتیکی در مسیر بیوسنتز اسید سیلک و هگزوزامین

Genetic defects in the hexosamine and sialic acid biosynthesis pathway

Keywords: AChE; Acetylcholinesterase; AChR; Acetylcholine Receptor; ALG13,14; UDP-N-acetylglucosaminyltransferase subunit 13, 14; AMDHD2; Amidohydrolase domain containing 2; ATP; Adenosine triphosphate; Aβ; Amyloid β; CDG; Congenital disorders of glycosylation; C

دانلود رایگان متن کامل مقاله ISI 39 صفحه سال انتشار : 2016 سفارش ترجمه

استفاده از توالی عاملی کلی به بیماری متابولیک نادر با ارزیابی عصب شناختی و دستگاه گوارش: اختلال مادرزادی گلیسرولینگ، تقلید از بیماری ذخیره سازی گلیکوژن

Application of whole exome sequencing to a rare inherited metabolic disease with neurological and gastrointestinal manifestations: A congenital disorder of glycosylation mimicking glycogen storage disease

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2015 سفارش ترجمه

اختلالات مادرزادی گلیکوزیلات: یک نمودار مختصر اختلال گلیکوکالیک است

Congenital disorders of glycosylation: a concise chart of glycocalyx dysfunction

Keywords: CDG; disease; glycoprotein; endoplasmic reticulum; Golgi

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

گلیکوپروفیلیزینگ اسپکترومتری جرمی با وضوح بالا از انتقالین سالم برای شناسایی تشخیص و تشخیص زیرمجموعه در اختلالات مادرزادی گلیکوزیلات

High-resolution mass spectrometry glycoprofiling of intact transferrin for diagnosis and subtype identification in the congenital disorders of glycosylation

Keywords: ApoCIII; apolipoprotein CIII; ATP6V0A2; ATPase, H+ transporting, lysosomal V0 subunit a2; B4GALT1; β-1,4-galactosyltransferase 1; CDG; Congenital Disorders of Glycosylation; CE; Capillary electrophoresis; CMP; cytidine monophosphate; COG1; component of o

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2015 سفارش ترجمه

Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX

Keywords: ApoC-III; apolipoprotein C-III; CDG; congenital disorders of glycosylation; ChE; cholinesterase; CMP-NeuAc; cytidine monophosphate N-acetylneuraminic acid; Glc-1-P; glucose-1-phosphate; Gal; galactose; GalNAc; N-acetylgalactosamine; GSD; glycogen storage

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2018 سفارش ترجمه

Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG

Keywords: CDG; Congenital Disorders of Glycosylation; CE; cholesterol ester; Chol; cholesterol; DAG; diacylglycerol; PC; phosphatidylcholine; -O; lipid containing ether/odd numbered fatty acyl; -P; plasmalogen; PE; phosphatidylethanolamine; PI; phosphatideylinosito

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2018 سفارش ترجمه

Reductive chemical release of N-glycans as 1-amino-alditols and subsequent 9-fluorenylmethyloxycarbonyl labeling for MS and LC/MS analysis

Keywords: N-glycans; Reductive chemical release; Fmoc; Permethylation; LC/MS; Fmoc-Cl; 9-fluorenylmethyloxycarbonyl chloroformate; PMP; 1-phenyl-3-methyl-5-pyrazolone; CDG; congenital disorders of glycosylation; HILIC; hydrophilic interaction liquid chromatography;

دانلود رایگان متن کامل مقاله ISI 12 صفحه سال انتشار : 2018 سفارش ترجمه

Urine oligosaccharide screening by MALDI-TOF for the identification of NGLY1 deficiency

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 19 صفحه سال انتشار : 2018 سفارش ترجمه

Pragmatic and rapid analysis of carbonyl, oxidation and chlorination nucleoside-adducts in murine tissue by UPLC-ESI-MS/MS

Keywords: %RSD; percent relative standard deviation; BHT; butylated hydroxytoluene; cdA; 8-chloro-2′-deoxyadenosine; cdG; 8-chloro-2′-deoxyguanosine; CrodG; α-methyl-γ-hydroxy-1,N2-propano-2′-deoxyguanosine; dA; deoxyadenosine; dC; deoxycytosine; dG; deoxyg

دانلود رایگان متن کامل مقاله ISI 21 صفحه سال انتشار : 2018 سفارش ترجمه

CCDC115-CDG: A new rare and misleading inherited cause of liver disease

Keywords: CCDC115; CDG; Copper; Glycosylation; Liver fibrosis; Liver steatosis;

دانلود رایگان متن کامل مقاله ISI 23 صفحه سال انتشار : 2018 سفارش ترجمه

Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 32 صفحه سال انتشار : 2018 سفارش ترجمه

Mitochondrial function requires NGLY1

Keywords: C. elegans; Caenorhabditis elegans; CDG; congenital disorders of glycosylation; ER; endoplasmic reticulum; ERAD; ER-associated degradation; ERAF; ER-associated folding; FCCP; carbonyl cyanide 4-(trifluoromethoxy) phenylhydrazone; FCL; fibroblast cell line

دانلود رایگان متن کامل مقاله ISI 40 صفحه سال انتشار : 2018 سفارش ترجمه

Oldest record of Mathildellidae (Crustacea: Decapoda: Goneplacoidea) associated with Retroplumidae from the Upper Cretaceous of NE Mexico

Keywords: Brachyura; Goneplacoidea; Mathildellidae; Retroplumidae; Late Cretaceous; Late Campanian; Mexico; a3-a6; abdominal somites; ant?; antenna?; as1-as4; anterolateral spines; cd; cardiac region; cdg; cardiac groove; cdt; tubercles of cardiac region; cg; cervi

دانلود رایگان متن کامل مقاله ISI 50 صفحه سال انتشار : 2018 سفارش ترجمه

Case ReportA case of early onset epileptic encephalopathy with de novo mutation in SLC35A2: Clinical features and treatment for epilepsy

Keywords: SLC35A2; CDG; Early onset epileptic encephalopathy; Skewed X-inactivation; ACTH therapy;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2017 سفارش ترجمه

TMEM165 deficiencies in Congenital Disorders of Glycosylation type II (CDG-II): Clues and evidences for roles of the protein in Golgi functions and ion homeostasis

Keywords: CDG; Congenital Disorders of Glycosylation; UPF0016; Uncharacterized Protein Family 0016; Ca2+; calcium; Mn2+; manganese; GAG; glycosaminoglycans; IEF; isoelectrofocalisation; COG; Conserved Oligomeric Golgi; TMEM165; Gdt1p; Congenital disorders of glycos

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2017 سفارش ترجمه

Original ArticlesA Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis

Keywords: rare diseases; CDG phenotypes; PMM2-CDG; mutation; gene; ApoC3; Lipoprotein apoCIII; CDG; Congenital disorders of glycosylation; %CDT; Percentage of transferrin deficient in carbohydrates; ER; Endoplasmic reticulum; MPI; Mannosephosphate isomerase; PMM2;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

Removal of oxidatively generated DNA damage by overlapping repair pathways

Keywords: BER; base excision repair; NER; nucleotide excision repair; NIR; nucleotide incision repair; ROS; reactive oxygen species; RNS; reactive nitrogen species; GG; global genomic; TC; transcription coupled; cdG; 5′,8-cyclo-2′-deoxyguanosine; cdA; 5′,8-cy

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

Compressive strength performance of geopolymer paste derived from Completely Decomposed Granite (CDG) and partial fly ash replacement

Keywords: Geopolymer; Sustainable material; CDG; Fly ash; Compressive strength;

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2017 سفارش ترجمه

Partial correction of neutrophil dysfunction by oral galactose therapy in glycogen storage disease type Ib

Keywords: 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-

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2017 سفارش ترجمه

Synthesis and biological evaluation of chemical tools for the study of Dolichol Linked Oligosaccharide Diphosphatase (DLODP)

Keywords: CDG; Diphosphatase; Phosphosugars; Disubstituted diphosphates; Biological evaluation; Glycochemistry;

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2017 سفارش ترجمه

Review articleGolgi trafficking defects in postnatal microcephaly: The evidence for “Golgipathies”

Keywords: CDG; congenital disorders of glycosylation; CGN; cis-Golgi network; CNS; central nervous system; COG; conserved oligomeric golgi; COH; Cohen syndrome; DYM; DYMECLIN; EARP; endosome-associated recycling protein; ER; endoplasmic reticulum; ERGIC; ER-Golgi i

دانلود رایگان متن کامل مقاله ISI 18 صفحه سال انتشار : 2017 سفارش ترجمه

Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2016 سفارش ترجمه

Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene

Keywords: CDG; Congenital defects in glycosylation; EBV; Epstein Barr Virus.; GlcNAc-1-P; N-acetyl-glucosamine-1-phosphate.; GlcNAc-6-P; N-acetyl-glucosamine-6-phosphate; HIES; hyper-IgE syndrome; PGM3; Phosphoglucomutase 3; UDP-GalNac; uridine diphosphate N-acetyl

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2015 سفارش ترجمه

Cotranslational and posttranslocational N-glycosylation of proteins in the endoplasmic reticulum

Keywords: ARMR; autosomal recessive mental retardation; CDG; congenital disorders of glycosylation; ERAD; ER-associated degradation; IEF; isoelectric focusing; LLO; lipid linked oligosaccharide; OST; oligosaccharyltransferase; RAMP; ribosome associated membrane pro

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

Key features and clinical variability of COG6-CDG

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2015 سفارش ترجمه

N-glycoprofiling analysis in a simple glycoprotein model: A comparison between recombinant and pituitary glycosylated human prolactin

Keywords: CDG; congenital disorders of glycosylation; CHO; Chinese hamster ovary; CHX; cycloheximide; hPRL; human prolactin; HPSEC; size-exclusion HPLC; MALDI-TOF-MS; matrix assisted laser desorption ionization time-of-flight mass spectrometry; MM; molecular mass;

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2015 سفارش ترجمه

The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation

Keywords: CDG; congenital disorders of glycosylation; Tf; transferrin; CDT; carbohydrate-deficient transferrin; HPLC; high-performance liquid chromatography; IEF; isoelectric focusing; ESI-TOF MS; electrospray ionization time of flight mass spectrometry; pKa; acid

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

Galactose supplementation in phosphoglucomutase-1 deficiency; review and outlook for a novel treatable CDG

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2014 سفارش ترجمه

ATP6V0A2 mutations present in two Mexican Mestizo children with an autosomal recessive cutis laxa syndrome type IIA

Keywords: Laxa; Glycosylation; ATP6V0A2; CDG; ARCL; Hispanic

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2014 سفارش ترجمه

N-Linked glycan site occupancy impacts the distribution of a potassium channel in the cell body and outgrowths of neuronal-derived cells

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 10 صفحه سال انتشار : 2014 سفارش ترجمه

Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 15 صفحه سال انتشار : 2014 سفارش ترجمه

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy

Keywords: 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

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2013 سفارش ترجمه

Expression of the sialyltransferase, ST3Gal4, impacts cardiac voltage-gated sodium channel activity, refractory period and ventricular conduction

Keywords: ST3Gal4; beta-galactoside alpha-2,3-sialyltransferase 4; Nav; voltage-gated Na+ channel; ST3Gal4−/−; mouse strain homozygous for a ST3Gal4 null transgene; AP; action potential; Glycogene; gene encoding a protein involved in glycosylation; SAs; sialic

دانلود رایگان متن کامل مقاله ISI 11 صفحه سال انتشار : 2013 سفارش ترجمه

Microheterogeneity of some serum glycoproteins in neurodegenerative diseases

Keywords: AD; Alzheimer's dementia; Apo; apolipoprotein; aAT; alpha1-antitrypsine; CDG; congenital disorders of glycosylation; chi2; chi-square analysis of association; CNS; central nervous system; FT; Fisher's exact probability test; IMD; inherited metabolic disor

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2012 سفارش ترجمه

B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement

Keywords: CDG; Congenital disorders of glycosylation; SNP; Single nucleotide polymorphism;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

Comparison of an ultrasonic interferometer manometer and a new dynamic flow control system in the pressure range 1–133 Pa

Keywords: UIM; Flow control system; CDG; Calibration; Vacuum gauge

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2011 سفارش ترجمه

ReviewCongenital disorders of glycosylation in hepatology: The example of polycystic liver disease

Keywords: CDG; congenital disorders of glycosylation; PCLD; polycystic liver disease; SEC63; SEC63 homolog (S. cerevisiae); PRKCSH; protein kinase C substrate 80K-H (80 kDa protein, Heavy chain); ADPKD; autosomal dominant polycystic kidney disease; ER; endoplasmic

دانلود رایگان متن کامل مقاله ISI 9 صفحه سال انتشار : 2010 سفارش ترجمه

Towards a therapy for phosphomannomutase 2 deficiency, the defect in CDG-Ia patients

Keywords: Glycosylation disorder; CDG; Phosphomannomutase2; Phosphomannose isomerase; Therapy; High throughput screening

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2009 سفارش ترجمه

COG defects, birth and rise!

Keywords: COG; CDG; Glycosylation; Golgi; Trafficking

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2009 سفارش ترجمه

Deficiencies in subunits of the Conserved Oligomeric Golgi (COG) complex define a novel group of Congenital Disorders of Glycosylation

Keywords: CDG; COG complex; Glycosylation; Vesicular trafficking

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2008 سفارش ترجمه

A specific immunoprecipitation method for isolating isoforms of insulin-like growth factor binding protein-3 from serum

Keywords: CDG; Cross-linking; ELISA; Gel electrophoresis; Immunoprecipitation; Western blot

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2008 سفارش ترجمه

Formation of colloidal dispersion gels from aqueous polyacrylamide solutions

Keywords: CDG; Polyacrylamide and aluminum citrate; Salinity; Viscosity; Electrophoretic mobility

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2008 سفارش ترجمه

Carbohydrate-deficient transferrin (CDT) as a biochemical tool for the screening of congenital disorders of glycosylation (CDGs)

Keywords: Transferrin; CDT; CDG; HPLC

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2007 سفارش ترجمه

Complex oligosaccharides are N-linked to Kv3 voltage-gated K+ channels in rat brain

Keywords: 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;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2007 سفارش ترجمه

Congenital disorders of glycosylation: Rapidly enlarging group of (neuro)metabolic disorders

Keywords: Congenital disorders of glycosylation; CDG; Glycosylation defects; COG

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2007 سفارش ترجمه

PMM2 intronic branch-site mutations in CDG-Ia

Keywords: Branch-site mutations; CDG; CDG-Ia

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2006 سفارش ترجمه