Keywords: اختلالات مادرزادی گلیکوزیلات; 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
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Keywords: اختلالات مادرزادی گلیکوزیلات; 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
Keywords: اختلالات مادرزادی گلیکوزیلات; 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
Keywords: اختلالات مادرزادی گلیکوزیلات; 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
Keywords: اختلالات مادرزادی گلیکوزیلات; 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
Keywords: اختلالات مادرزادی گلیکوزیلات; Mannose; Congenital disorders of glycosylation; N-glycosylation; Phosphomannose isomerase; Phosphomannomutase; Metabolism;
Aberrant apolipoprotein C-III glycosylation in glycogen storage disease type III and IX
Keywords: اختلالات مادرزادی گلیکوزیلات; 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
Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG
Keywords: اختلالات مادرزادی گلیکوزیلات; 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
Reductive chemical release of N-glycans as 1-amino-alditols and subsequent 9-fluorenylmethyloxycarbonyl labeling for MS and LC/MS analysis
Keywords: اختلالات مادرزادی گلیکوزیلات; 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;
Mitochondrial function requires NGLY1
Keywords: اختلالات مادرزادی گلیکوزیلات; 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
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency
Keywords: اختلالات مادرزادی گلیکوزیلات; GFM1; Mitochondrial disease; Congenital disorders of glycosylation; Mitochondrial elongation factor; Cryptic splice site;
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: اختلالات مادرزادی گلیکوزیلات; 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
Regular ArticlePhenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II
Keywords: اختلالات مادرزادی گلیکوزیلات; Congenital disorders of glycosylation; N-glycosylation; Combined N- and O-glycosylation; Transferrin isoelectric focusing;
ALG9-CDG: New clinical case and review of the literature
Keywords: اختلالات مادرزادی گلیکوزیلات; Congenital disorders of glycosylation; ALG9-CDG; CDG-IL; ALG9; Transferrin isoelectrofocusing type 1 pattern; Lethal skeletal dysplasia;
Original ArticlesA Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis
Keywords: اختلالات مادرزادی گلیکوزیلات; 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;
Review articleGolgi trafficking defects in postnatal microcephaly: The evidence for “Golgipathies”
Keywords: اختلالات مادرزادی گلیکوزیلات; 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
Evidence for splice transcript variants of TMEM165, a gene involved in CDG
Keywords: اختلالات مادرزادی گلیکوزیلات; N-glycosylation; Congenital Disorders of Glycosylation; TMEM165; Golgi; Splice-transcript-isoforms;
Mechanistic aspects of the formation of α-dystroglycan and therapeutic research for the treatment of α-dystroglycanopathy: A review
Keywords: اختلالات مادرزادی گلیکوزیلات; α-DG; Glycosyltransferase; O-Mannose glycan; Ribitol 5-phosphate; Antisense therapy; Fukuyama congenital muscular dystrophy; α-DG; alpha-dystroglycan; FCMD; Fukuyama type congenital muscular dystrophy; MEB; muscle eye brain disease; WWS; Walker Warburg
Congenital disorder of glycosylphosphatidylinositol (GPI)-anchor biosynthesis-The phenotype of two patients with novel mutations in the PIGN and PGAP2 genes
Keywords: اختلالات مادرزادی گلیکوزیلات; GPI-anchor deficiency; PGAP2 gene; PIGN gene; Congenital disorders of glycosylation; Flow cytometry;
Cotranslational and posttranslocational N-glycosylation of proteins in the endoplasmic reticulum
Keywords: اختلالات مادرزادی گلیکوزیلات; 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
N-glycoprofiling analysis in a simple glycoprotein model: A comparison between recombinant and pituitary glycosylated human prolactin
Keywords: اختلالات مادرزادی گلیکوزیلات; 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;
The novel transferrin E592A variant impairs the diagnostics of congenital disorders of glycosylation
Keywords: اختلالات مادرزادی گلیکوزیلات; 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
Physiologic and pathophysiologic consequences of altered sialylation and glycosylation on ion channel function
Keywords: اختلالات مادرزادی گلیکوزیلات; Sialylation; Voltage-gated potassium channels; Voltage-gated sodium channels; Neurological disorders; Congenital disorders of glycosylation; Glycosylation;
ALG3-CDG (CDG-Id): Clinical, biochemical and molecular findings in two siblings
Keywords: اختلالات مادرزادی گلیکوزیلات; Congenital disorders of glycosylation; Disability; Somnolence; Cerebellar hypoplasia;
Molecular diagnostic testing for congenital disorders of glycosylation (CDG): Detection rate for single gene testing and next generation sequencing panel testing
Keywords: اختلالات مادرزادی گلیکوزیلات; Congenital disorders of glycosylation; Next generation sequencing; Whole exome sequencing; Metabolic disorder; Diagnostic testing;
Expression of the sialyltransferase, ST3Gal4, impacts cardiac voltage-gated sodium channel activity, refractory period and ventricular conduction
Keywords: اختلالات مادرزادی گلیکوزیلات; ST3Gal4; beta-galactoside alpha-2,3-sialyltransferase 4; Nav; voltage-gated Na+ channel; ST3Gal4â/â; mouse strain homozygous for a ST3Gal4 null transgene; AP; action potential; Glycogene; gene encoding a protein involved in glycosylation; SAs; sialic
Serum N-glycan and O-glycan analysis by mass spectrometry for diagnosis of congenital disorders of glycosylation
Keywords: اختلالات مادرزادی گلیکوزیلات; N-glycan; O-glycan; MALDI–TOF/MS; LC–MS/MS; Permethylation; Congenital disorders of glycosylation
Microheterogeneity of some serum glycoproteins in neurodegenerative diseases
Keywords: اختلالات مادرزادی گلیکوزیلات; 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
Identification of the first COG–CDG patient of Indian origin
Keywords: اختلالات مادرزادی گلیکوزیلات; N-Glycosylation; Congenital disorders of glycosylation; COG4
Síndrome de Sotos: nueva mutación «sin sentido» del gen NSD1 que presenta cutis laxa neonatal
Keywords: اختلالات مادرزادی گلیکوزیلات; Síndrome de Sotos; Defectos congénitos de glucosilación; Cutis laxa; Mutación nonsense; Gen NSD1Sotos syndrome; Congenital disorders of glycosylation; Overgrowth syndrome; Cutis laxa; NSD1 gene; Nonsense mutation
B4GALT1-Congenital Disorders of Glycosylation Presents as a Non-Neurologic Glycosylation Disorder with Hepatointestinal Involvement
Keywords: اختلالات مادرزادی گلیکوزیلات; CDG; Congenital disorders of glycosylation; SNP; Single nucleotide polymorphism;
Mislocalization of large ARF-GEFs as a potential mechanism for BFA resistance in COG-deficient cells
Keywords: اختلالات مادرزادی گلیکوزیلات; Golgi; Retrograde traffic; Conserved oligomeric golgi complex; GBF1; BFA; Congenital disorders of glycosylation
Analysis and metabolic engineering of lipid-linked oligosaccharides in glycosylation-deficient CHO cells
Keywords: اختلالات مادرزادی گلیکوزیلات; CDG, Congenital Disorders of Glycosylation; P-Dol, dolichol phosphate; LLO, lipid-linked oligosaccharide; Man, mannose; Glc, glucose; GlcNAc, N-acetylglucosamineChinese Hamster Ovary; Congenital Disorders of Glycosylation; Hexokinase; HPLC; N-linked glyca
ReviewCongenital disorders of glycosylation in hepatology: The example of polycystic liver disease
Keywords: اختلالات مادرزادی گلیکوزیلات; CDG; congenital disorders of glycosylation; PCLD; polycystic liver disease; SEC63; SEC63 homolog (S. cerevisiae); PRKCSH; protein kinase C substrate 80K-H (80Â kDa protein, Heavy chain); ADPKD; autosomal dominant polycystic kidney disease; ER; endoplasmic
Congenital disorder of glycosylation Ia: New differentially expressed proteins identified by 2-DE
Keywords: اختلالات مادرزادی گلیکوزیلات; Congenital disorders of glycosylation; Phenotype; Mutation; Glycoproteome; Two-dimensional gel electrophoresis;
Exogenous mannose does not raise steady state mannose-6-phosphate pools of normal or N-glycosylation-deficient human fibroblasts
Keywords: اختلالات مادرزادی گلیکوزیلات; Mannose-6-phosphate; N-glycosylation; Congenital disorders of glycosylation; Phosphomannose isomerase; Glycoprotein; Phosphomannomutase;
Novel ALG8 mutations expand the clinical spectrum of congenital disorder of glycosylation type Ih
Keywords: اختلالات مادرزادی گلیکوزیلات; Congenital disorders of glycosylation; CDG-Ih; Inherited metabolic disease; ALG8
Long-term evolution of eight Spanish patients with CDG type Ia: Typical and atypical manifestations
Keywords: اختلالات مادرزادی گلیکوزیلات; Congenital disorders of glycosylation; CDG-Ia; Cerebellar atrophy; Olivopontocerebellar atrophy; Hydrops foetalis; CoagulopathyATIII, antithrombin III; aPPT, activated partial thromboplastin time; CDG, congenital disorders of glycosylation; GDP-mannose, g
Hypoglycosylation due to dolichol metabolism defects
Keywords: اختلالات مادرزادی گلیکوزیلات; Dol, Dolichol; Man, Mannose; Glc, Glucose; GlcNac, N-acetylglucosamine; ER, Endoplamic reticulum; GPI, Glycosylphosphatidylinositol; CTP, Cytidine triphosphateDolichol metabolism; Congenital disorders of glycosylation; Dolichol phosphate recycling; Dolich
Vacuolar H+-ATPase meets glycosylation in patients with cutis laxa
Keywords: اختلالات مادرزادی گلیکوزیلات; Glycosylation; Cutis laxa; V-ATPase; Congenital disorders of glycosylation; OMIM 219200; Apolipoprotein C III
Development of the Human Cerebellum and Its Disorders
Keywords: اختلالات مادرزادی گلیکوزیلات; Cerebellar development; Pontocerebellar hypoplasia; Joubert syndrome; Dandy-Walker malformation; Congenital disorders of glycosylation; Rhombencephalosynapsis;
Defecto congénito de glucosilación tipo Ib. Experiencia en el tratamiento con manosa
Keywords: اختلالات مادرزادی گلیکوزیلات; Error innato del metabolismo; Defectos congénitos de glucosilación; Defecto congénito de la glucosilación Ib; Fosfomanosa isomerasa; ManosaInborn errors of metabolism; Congenital disorders of glycosylation; CDG Ib; Phosphomannose isomerase; Mannose
MALDI-QTOFMS/MS identification of glycoforms from the urine of a CDG patient
Keywords: اختلالات مادرزادی گلیکوزیلات; Glycomics; Glycoconjugates; MALDI Q-TOF MS; Congenital disorders of glycosylation; Computer-assisted calculations
Molecular and clinical characterization of a Moroccan Cog7 deficient patient
Keywords: اختلالات مادرزادی گلیکوزیلات; N-glycosylation; Cog7; Congenital Disorders of Glycosylation
Mono, di and tri-mannopyranosyl phosphates as mannose-1-phosphate prodrugs for potential CDG-Ia therapy
Keywords: اختلالات مادرزادی گلیکوزیلات; Mannose-1-phosphate; Prodrugs; Silver phosphate; Congenital disorders of glycosylation
Congenital disorders of glycosylation: Rapidly enlarging group of (neuro)metabolic disorders
Keywords: اختلالات مادرزادی گلیکوزیلات; Congenital disorders of glycosylation; CDG; Glycosylation defects; COG
Complex oligosaccharides are N-linked to Kv3 voltage-gated K+ channels in rat brain
Keywords: اختلالات مادرزادی گلیکوزیلات; 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;
A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics
Keywords: اختلالات مادرزادی گلیکوزیلات; 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