Keywords: اختلالات متابولیک به ارث رسیده; PKU; Phenylketonuria; Phe; Phenylalanine; IMD; Inherited Metabolic Disorders; Breastfeeding; Infant practices; Phenylketonuria; Phenylalanine; Phe-free infant formula;
مقالات ISI اختلالات متابولیک به ارث رسیده (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
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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.
Keywords: اختلالات متابولیک به ارث رسیده; Inherited metabolic disorders; Pakistan; Treatment; Antenatal testing; Newborn screening; Cascade screening
Keywords: اختلالات متابولیک به ارث رسیده; Newborn screen; Inherited metabolic disorders; Inborn errors of metabolism; PKU;
Keywords: اختلالات متابولیک به ارث رسیده; G6PD; glucose 6 phosphate deficiency; 17OHP; 17 hydroxy progesterone; GALT; galactose 1-phosphate uridyl transferase; SUAC; succinyl acetone; DBS; dried blood spots; EQAS; External Quality Assurance Scheme; Quality control procedures; Diagnostic proficien
Keywords: اختلالات متابولیک به ارث رسیده; Inherited metabolic disorders; Pediatric emergency services; Metabolic decompensationEnfermedades metabólicas congénitas; Servicios de urgencias pediátricas; Descompensación metabólica
Keywords: اختلالات متابولیک به ارث رسیده; Hematopoietic stem cell transplantation; B-thalassemia major; Fanconi’s anemia; Immunodeficiency diseases; Inherited metabolic disorders
Keywords: اختلالات متابولیک به ارث رسیده; Newborn screening; Inherited metabolic disorders; Early hearing detection and intervention; Critical congenital heart disease;
Keywords: اختلالات متابولیک به ارث رسیده; Allo-ILE; alloisoleucine; BCAA; branched-chain amino acids; BCKA; branched-chain α-ketoacids; BCKD; branched-chain α-ketoacid dehydrogenase; CoA; coenzyme A; DRI; dietary reference intake; GMDI; Genetic Metabolic Dietitians International; HRSA; health r
Allele-Level HLA Matching Impacts Key Outcomes Following Umbilical Cord Blood Transplantation for Inherited Metabolic Disorders
Keywords: اختلالات متابولیک به ارث رسیده; Stem cell transplantation; Inherited metabolic disorders; Engrafted survival outcomes; High resolution; Allelic HLA; Umbilical cord;
Updated, web-based nutrition management guideline for PKU: An evidence and consensus based approach
Keywords: اختلالات متابولیک به ارث رسیده; ACMG; American College of Medical Genetics; AGREE II; Appraisal of Guidelines for Research and Evaluation; BH4; tetrahydrobiopterin; BMD; bone mineral disease; DRI; dietary reference intake; DXA; dual x-ray absorptiometry; EF; executive function; FFM; fat
Quantitation of gamma-hydroxybutyric acid in dried blood spots: Feasibility assessment for newborn screening of succinic semialdehyde dehydrogenase (SSADH) deficiency
Keywords: اختلالات متابولیک به ارث رسیده; SSADH; succinic semialdehyde dehydrogenase; DBS; dried blood spots; IMDs; inherited metabolic disorders; PKU; phenylketonuria; PHE; phenylalanine; GABA; gamma aminobutyric acid; GHB; gamma-hydroxybutyric acid; α-HBA; alpha-hydroxybutyric acid; β-HBA; be
Metabolic epilepsy: An update
Keywords: اختلالات متابولیک به ارث رسیده; Encephalopathy; Metabolism; Children; Genetics; Inherited metabolic disorders; Metabolic epilepsy
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders
Keywords: اختلالات متابولیک به ارث رسیده; Targeted metabolomics; Inherited metabolic disorders; Flow injection analysis; Tandem mass spectrometry; Principal component analysis; Hierarchical cluster analysis
LC–MS/MS progress in newborn screening
Keywords: اختلالات متابولیک به ارث رسیده; Newborn screening; Tandem mass spectrometry; Neonatal screening; Inherited metabolic disorders; Lysosomal storage diseases; Quality control; LC–MS/MS; Liquid chromatography; Amino acids; Acylcarnitines
Evaluation of comprehensive two-dimensional gas chromatography coupled to time-of-flight mass spectrometry for the diagnosis of inherited metabolic disorders using an automated data processing strategy
Keywords: اختلالات متابولیک به ارث رسیده; Comprehensive two-dimensional gas chromatography; Time-of-flight mass spectrometry; Organic acidurias; Inherited metabolic disorders; Automated data processing;
Immediate release pellets with lipid binders obtained by solvent-free cold extrusion
Keywords: اختلالات متابولیک به ارث رسیده; Solid lipid extrusion; Glycerides; Lipids; Immediate release pellets; Paediatric drug formulations; Sodium benzoate; Inherited metabolic disorders
Simultaneous retention index analysis of urinary amino acids and carboxylic acids for graphic recognition of abnormal state
Keywords: اختلالات متابولیک به ارث رسیده; Retention index analysis; Urinary amino acids and carboxylic acids; Ethoxycarbonylation; Methoximation; tert-Butyldimethylsilylation; Inherited metabolic disorders;