Keywords: خطاهای متولد شده متابولیسم; Selective screening; Inborn errors of metabolism; Bahrain;
مقالات ISI خطاهای متولد شده متابولیسم (ترجمه نشده)
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Keywords: خطاهای متولد شده متابولیسم; autism; metabolic disorders; autism spectrum disorders; inborn errors of metabolism;
Keywords: خطاهای متولد شده متابولیسم; Inborn errors of metabolism; Neurologic diseases; Adults;
Keywords: خطاهای متولد شده متابولیسم; IEM; inborn errors of metabolism; NIH; National Institutes of Health; ODS; Office of Dietary Supplements; ORDR; Office of Rare Diseases Research; HRSA; Health Resources and Services Administration; PKU; phenylketonuria; PAH; phenylalanine hydroxylase; PHE
Keywords: خطاهای متولد شده متابولیسم; Methylmalonic acid; Methylmalonic acidemia; LC-MS/MS; Supported-liquid extraction; Inborn errors of metabolism
Keywords: خطاهای متولد شده متابولیسم; neonate; shock; early-onset sepsis; late-onset sepsis; congenital heart disease; cyanosis; inborn errors of metabolism; congenital adrenal hyperplasia; hemorrhagic disease of the newborn; vitamin K–deficient bleeding
Keywords: خطاهای متولد شده متابولیسم; neonatal sepsis; meningitis; respiratory distress in the neonate; cyanosis; neonatal seizures; feeding difficulties; inborn errors of metabolism
Keywords: خطاهای متولد شده متابولیسم; Fatty acid oxidation disorders; Inborn errors of metabolism; Mitochondrial fatty acid β-oxidation; PolyneuropathyDHA, docosahexaenoic acid; EFA, essential fatty acids; FAO, mitochondrial fatty acid β-oxidation; EMG, electromyography; ENG, electroneurograp
Keywords: خطاهای متولد شده متابولیسم; Desmosterol; Inborn errors of metabolism; Cholesterol biosynthesis defect; Congenital anomalies; Consanguinity;
A novel method for quantitation of acylglycines in human dried blood spots by UPLC-tandem mass spectrometry
Keywords: خطاهای متولد شده متابولیسم; Newborn screening; Inborn errors of metabolism; Tandem mass spectrometry; 2MBG; 2-methylbutyrylglycine; 3MCC; 3-methylcrotonyl-CoA carboxylase deficiency; 3MCG; 3-methylcrotonylglycine; AG; acetylglycine; BG; butyrylglycine; BKTD; beta ketothiolase defici
Multiplex tandem mass spectrometry assay for newborn screening of X-linked adrenoleukodystrophy, biotinidase deficiency, and galactosemia with flexibility to assay other enzyme assays and biomarkers
Keywords: خطاهای متولد شده متابولیسم; Lysosomal storage disease; Inborn errors of metabolism; Enzyme deficiency; C26-LPC; 1-hexacosanoyl-2-hydroxy-sn-glycero-3-phosphocholine; DBS; dried blood spot on a newborn screening card; GALT; galactose-1-phosphate uridyltransferase; LC-MS/MS; liquid ch
Case studyLimited benefits of presymptomatic cord blood transplantation in neurovisceral acid sphingomyelinase deficiency (ASMD) intermediate type
Keywords: خطاهای متولد شده متابولیسم; Inborn errors of metabolism; Lysosomal storage disorders; Niemann-Pick disease type B; Sphingomyelinase deficiency intermediate type; HSCT, Hematopoietic stem cell transplantation;
Quantification of metabolites in dried blood spots by direct infusion high resolution mass spectrometry
Keywords: خطاهای متولد شده متابولیسم; Dried blood spot; High resolution mass spectrometry; Direct infusion; IEM; inborn errors of metabolism; HRMS; high resolution mass spectrometry; nanoESI- HRMS; nanoelectrospray ionization coupled to high resolution mass spectrometry; DBS; dried blood spot
Co nowego w cholestazie - czÄÅÄ 3. Wrodzone zaburzenia syntezy kwasów żóÅciowych
Keywords: خطاهای متولد شده متابولیسم; zaburzenia amidacji kwasów żóÅciowych; defekt biaÅka dwufunkcyjnego; kwasy żóÅciowe; wrodzone bÅÄdy metabolizmu; Defective bile acid amidation; Bifunctional protein deficiency; Bile acids; Inborn errors of metabolism;
Detection of inborn errors of metabolism utilizing GC-MS urinary metabolomics coupled with a modified orthogonal partial least squares discriminant analysis
Keywords: خطاهای متولد شده متابولیسم; Gas chromatography-mass spectrometry; Urinary metabolomic analysis; Inborn errors of metabolism; Orthogonal partial least squares discriminant analysis; Hybrid particle swarm optimization;
Urinary metabolic phenotyping of mucopolysaccharidosis type I combining untargeted and targeted strategies with data modeling
Keywords: خطاهای متولد شده متابولیسم; IEM; inborn errors of metabolism; LSD; lysosomal storage diseases; MPS; mucopolysaccharidoses; GAGs; glycosaminoglycans; MPS I; mucopolysaccharidosis type I; MPS IT; treated mucopolysaccharidosis type I; UPLC-IM-MS; ultraperformance liquid chromatography-
Experimental evidence of oxidative stress in patients with l-2-hydroxyglutaric aciduria and that l-carnitine attenuates in vitro DNA damage caused by d-2-hydroxyglutaric and l-2-hydroxyglutaric acids
Keywords: خطاهای متولد شده متابولیسم; L-2-HGA; l-2-hydroxyglutaric aciduria; L-2-HG; l-2-hydroxyglutaric acid; D-2-HGA; d-2-hydroxyglutaric aciduria; D-2-HG; d-2-hydroxyglutaric acid; 2-HG; 2-hydroxyglutaric acid; LC; l-carnitine; L2HGDH; l-2-hydroxyglutarate dehydrogenase gene; D2HGDH; d-2-h
Profiles of amino acids and biogenic amines in the plasma of Cri-du-Chat patients
Keywords: خطاهای متولد شده متابولیسم; 5-HT; serotonin; 5p; chromosome 5; AcOrn; acetyl ornitine; ADMA; dimethylarginine asymmetric; ADP; adenosine diphosphate; AGAT; glycine amidinotransferase; Ala; alanine; Alpha AAA; alpha-aminoadipic acid; Arg; arginine; ASL; argininosuccinate lyase; Asn;
Protocolo diagnóstico de los errores congénitos del metabolismo en el adulto
Keywords: خطاهای متولد شده متابولیسم; Errores congénitos del metabolismo; Enfermedades metabólicas hereditarias; Adultos; Inborn errors of metabolism; Inherited metabolic diseases; Adults;
80-lecie fenyloketonurii. CzÄÅÄ I: historia nazwy i nietuzinkowi pionierzy badaÅ nad chorobÄ
Keywords: خطاهای متولد شده متابولیسم; fenyloketonuria; fenylopirogronianowa amencja; wrodzone bÅÄdy metabolizmu; historia medycyny; Phenylketonuria; Phenylpyruvic amentia; Inborn errors of metabolism; History of medicine;
Pharmacotherapy of inborn errors of metabolism illustrating challenges in orphan diseases
Keywords: خطاهای متولد شده متابولیسم; Enzyme replacement therapy; Diet; Inborn errors of metabolism; Orphan diseases; Pharmacotherapy; Scavenger;
Proceso de transición de la asistencia pediátrica a la adulta en pacientes con errores congénitos del metabolismo. Documento de consenso
Keywords: خطاهای متولد شده متابولیسم; Errores congénitos del metabolismo; Transición; Pediatras; Internistas; Consenso; Inborn errors of metabolism; Transition; Paediatricians; Internal Medicine doctors; Consensus;
An MRspec database query and visualization engine with applications as a clinical diagnostic and research tool
Keywords: خطاهای متولد شده متابولیسم; MRSpec; Magnetic resonance spectroscopy; Inborn errors of metabolism; Clinical dataset; Computational analysis; Neurochemical profiling;
Normal vitamin D levels and bone mineral density among children with inborn errors of metabolism consuming medical food–based diets
Keywords: خطاهای متولد شده متابولیسم; Humans; Vitamin D; Medical foods; Bone mineral density; Inborn errors of metabolism; PhenylketonuriaBMD, bone mineral density; DEXA, dual-energy x-ray absorptiometry; HPLC-MS/MS, high-pressure liquid chromatography tandem mass spectrometry; IEM, inborn er
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database
Keywords: خطاهای متولد شده متابولیسم; VLCAD; very long chain acyl-CoA dehydrogenase; NBS; newborn screening; MCT; medium chain triglycerides; IBEM-IS; Inborn Errors of Metabolism Information System; RUSP; Recommended Uniform Screening Panel; CK; creatine kinase; HELLP syndrome; hemolysis, ele
Thioethers as markers of hydrogen sulfide production in homocystinurias
Keywords: خطاهای متولد شده متابولیسم; Hydrogen sulfide; Cystathionine beta-synthase; Gamma-cystathionase; Homolanthionine; Cystathionine; Lanthionine; BSA; bovine serum albumin; CBS; cystathionine beta-synthase; CTH; gamma-cystathionase; Cys; cysteine; Cystat; cystathionine; H2S; hydrogen sul
Oxidative and nitrative stress and pro-inflammatory cytokines in Mucopolysaccharidosis type II patients: effect of long-term enzyme replacement therapy and relation with glycosaminoglycan accumulation
Keywords: خطاهای متولد شده متابولیسم; 3-NT; 3-nitrotyrosine; ABTS®; 2,2â²-azino-di-3-(ethylbenzthiazoline sulfonate); AChE:Fabâ²; acetylcholinesterase:Fabâ²; CAT; catalase; Cr; creatinine; di-Tyr; di-tyrosine; DNPH; 2,4-dinitrophenylhydrazine; DS; dermatan sulfate; DTNB; 5,5â²-dithiobis-
NMR-based urinalysis for beta-ketothiolase deficiency
Keywords: خطاهای متولد شده متابولیسم; Beta-ketothiolase deficiency; Inborn errors of metabolism; NMR spectroscopy;
Batwing appearance - A neuroradiologic clue to glutaric aciduria-type 1
Keywords: خطاهای متولد شده متابولیسم; Inborn errors of metabolism; Neurodegenerative disorders; Basal ganglia diseases;
Enzymatic diagnosis of homocystinuria by determination of cystathionine-Ã-synthase activity in plasma using LC-MS/MS
Keywords: خطاهای متولد شده متابولیسم; CBS; Cystathionine Ã-synthase; EDTA; Ethylenediaminetetracetic acid; DTT; Dithiothreitol; IEM; Inborn errors of metabolism; IS; Internal standard; LC-MS/MS; Liquid chromatography-tandem spectrometry; MoM; Multiples of median; PLP; Pyridoxal 5â²-phosphat
Maple syrup urine disease in Brazil: a panorama of the last two decades
Keywords: خطاهای متولد شده متابولیسم; Maple syrup urine disease; MSUD; Inborn errors of metabolism; DiagnosisDoença da urina de xarope de bordo; DXB; Erros inatos do metabolismo; Diagnóstico
Oxidative stress and inflammation in mucopolysaccharidosis type IVA patients treated with enzyme replacement therapy
Keywords: خطاهای متولد شده متابولیسم; 8-OHdG; 8-hydroxy-2â²-deoxyguanosine; CAT; catalase; Cr; creatinine; DI; damage index; Di-Tyr; di-tyrosine; DMB; 1,9-dimethylmethylene blue; DTNB; 5,5â²-dithiobis(2-nitrobenzoic acid); Endo III; endonuclease III; ELISA; enzyme-linked immunoassay; ERT; e
Arginine:glycine amidinotransferase (AGAT) deficiency: Clinical features and long term outcomes in 16 patients diagnosed worldwide
Keywords: خطاهای متولد شده متابولیسم; AGAT; arginine:glycine amidinotransferase; CDD; creatine deficiency disorders; CPK; creatine phosphokinase; CRTR; creatine transporter; CSF; cerebrospinal fluid; EEG; electroencephalogram; GAA; guanidinoacetate; GAMT; guanidinoacetate methyltransferase; G
Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities
Keywords: خطاهای متولد شده متابولیسم; Intellectual disability; Global developmental delay; Diagnosis; Treatment; Inborn errors of metabolism; Cost-effectiveness
Multifactorial modulation of susceptibility to l-lysine in an animal model of glutaric aciduria type I
Keywords: خطاهای متولد شده متابولیسم; Inborn errors of metabolism; Neurodegenerative disease; Amino acid; Animal model; Neural metabolism;
Brain MRI findings in aspartylglucosaminuria
Keywords: خطاهای متولد شده متابولیسم; Aspartylglucosaminuria; Lysosomal storage disorder; Inborn errors of metabolism; Magnetic resonance imaging; Intellectual disabilityMRI, magnetic resonance imaging; AGU, aspartylglucosaminuria; T, Tesla; AGA, aspartylglucosaminidase; SI, signal intensity;
Glycogen storage disease type I: clinical and laboratory profile
Keywords: خطاهای متولد شده متابولیسم; Inborn errors of metabolism; Glycogen storage disease type I; Clinical aspects; Diagnoses; Nutritional statusErros inatos do metabolismo; Doença de depósito de glicogênio tipo I; Aspectos clínicos; Diagnósticos; Estado nutricional
Synthesis framework estimating prevalence of MCADD and sensitivity of newborn screening programme in the absence of direct evidence
Keywords: خطاهای متولد شده متابولیسم; Screening; Sensitivity; Medium chain acyl-CoA dehydrogenase deficiency; Tandem mass spectrometry; Inborn errors of metabolism; MCADD;
Glycogen storage disease type I: clinical and laboratory profile
Keywords: خطاهای متولد شده متابولیسم; Inborn errors of metabolism; Glycogen storage disease type I; Clinical aspects; Diagnoses; Nutritional statusErros inatos do metabolismo; Doença de depósito de glicogênio tipo I; Aspectos clínicos; Diagnósticos; Estado nutricional
Metabolic White Matter Diseases and the Utility of MR Spectroscopy
Keywords: خطاهای متولد شده متابولیسم; Brain tumor; Demyelination; Inborn errors of metabolism; Leukodystrophy; Mitochondrial disorders; MR Spectroscopy (MRS); Radiation therapy; Voxel;
Inborn Error of Metabolism (IEM) screening in Singapore by electrospray ionization-tandem mass spectrometry (ESI/MS/MS): An 8Â year journey from pilot to current program
Keywords: خطاهای متولد شده متابولیسم; DBS; dried blood spot; ESI/MS/MS; electrospray ionization-tandem mass spectrometry; LC/MS/MS; liquid chromatography-tandem mass spectrometry; FAOD; fatty acid oxidation disorder; FPR; false positive rate; IEM; Inborn Errors of Metabolism; NBS; newborn scr
GC-MS analysis of organic acids in human urine in clinical settings: A study of derivatization and other analytical parameters
Keywords: خطاهای متولد شده متابولیسم; Organic acids analysis; GC-MS; Inborn errors of metabolism; Acidurias;
Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin
Keywords: خطاهای متولد شده متابولیسم; SBCADD; short/branched chain acyl-CoA dehydrogenase deficiency; 2-MBCD; 2-methylbutyryl CoA dehydrogenase deficiency; C2; acetylcarnitine; C3; propionylcarnitine; C5; 2-methylbutyrylcarnitine or isovalerylcarnitine; IVA; isovaleric acidemia; MS/MS; tandem
Biochemical and molecular diagnosis of tyrosinemia type I with two novel FAH mutations in a Hong Kong chinese patient: Recommendation for expanded newborn screening in Hong Kong
Keywords: خطاهای متولد شده متابولیسم; Expanded newborn screening; FAH gene; Hong Kong Chinese; Inborn errors of metabolism; Novel mutation; Tyrosinemia type I
Vaccination in children with inborn errors of metabolism
Keywords: خطاهای متولد شده متابولیسم; Children; Inborn errors of metabolism; Rare diseases; Vaccinations; Vaccines;
Antioxidant administration prevents memory impairment in an animal model of maple syrup urine disease
Keywords: خطاهای متولد شده متابولیسم; Maple syrup urine disease; Antioxidants; Cognitive impairment; SHIRPA; Inborn errors of metabolism
Inborn errors of metabolism: Psychosocial challenges and proposed family systems model of intervention
Keywords: خطاهای متولد شده متابولیسم; Inborn errors of metabolism; Psychosocial; Psychiatric; Grief; Family systems
Novel compound heterozygous mutation of MLYCD in a Chinese patient with malonic aciduria
Keywords: خطاهای متولد شده متابولیسم; Malonyl coenzyme A decarboxylase deficiency; Inborn errors of metabolism; Brain abnormality; MLYCD; Novel mutation;
Comparison between alpha-galactosidase A activity in blood samples collected on filter paper, leukocytes and plasma
Keywords: خطاهای متولد شده متابولیسم; DBS, dried blood spots on filter paper; FD, Fabry disease; GLA, alpha-galactosidase A; ROC, receiver operating characteristicFabry disease; Alpha-galactosidase A; Enzyme activity; Inborn errors of metabolism
Food Products Made with Glycomacropeptide, a Low-Phenylalanine Whey Protein, Provide a New Alternative to Amino Acid–Based Medical Foods for Nutrition Management of Phenylketonuria
Keywords: خطاهای متولد شده متابولیسم; Inborn errors of metabolism; Whey proteins; Phenylalanine metabolism; Glycomacropeptide