دانلود مقالات ISI درباره Pku + ترجمه فارسی

Newborn screening for metabolic disorders

Keywords: FAOD; Fatty acid oxidation disorders; GA-I; Glutaric acidemia type I; GALT; Galactose-1-phosphate uridyltransferase; IVA; Isovaleric acidemia; MCADD; Medium chain acyl-CoA dehydrogenase deficiency; 3-MCCD; 3-Methylcrotonyl-CoA carboxylase deficiency; MS/M

دانلود رایگان متن کامل مقاله ISI 13 صفحه سال انتشار : 2006 سفارش ترجمه

Low total antioxidant status is implicated with high 8-hydroxy-2-deoxyguanosine serum concentrations in phenylketonuria

Keywords: PKU; Total antioxidant status; Phenylalanine; 8-hydroxy-2-deoxyguanosine;

دانلود رایگان متن کامل مقاله ISI 4 صفحه سال انتشار : 2005 سفارش ترجمه

Understanding Newborn Screening System Issues With Emphasis on Cystic Fibrosis Screening

Keywords: AAP; American Academy of Pediatrics; ACHDGDNC; Advisory Committee on Heritable Diseases and Genetic Disorders in Newborns and Children; ACMG; American College of Medical Genetics; CF; cystic fibrosis; DNA; deoxyribonucleic acid; HHS; US Department of Heal

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2005 سفارش ترجمه

Balancing benefits and risks for cystic fibrosis newborn screening: implications for policy decisions

Keywords: CDC; Center for Disease Control and Prevention; CF; Cystic fibrosis; CFTR; Cystic fibrosis transmembrane conductance regulator; IRT; Immunoreactive trypsinogen; NBS; Newborn screening; PKU; Phenylketonuria;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2005 سفارش ترجمه

Speed of Sound: Relation to Geometric Characteristics of Bone in Children, Adolescents, and Adults

Keywords: BMD; Bone mineral density; DXA; Dual-energy x-ray absorptiometry; PKU; Phenylketonuria; PQCT; Peripheral QCT; QCT; Quantitative computed tomography; QUS; Quantitative ultrasound; SOS; Speed of sound; SSI; Strength-strain index; vBMDtot; Volumetric total B

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2005 سفارش ترجمه

Response of patients with phenylketonuria in the US to tetrahydrobiopterin

Keywords: Phenylketonuria; PKU; Tetrahydrobiopterin; BH4; BH4 kinetic studies;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2005 سفارش ترجمه

Long-term treatment with tetrahydrobiopterin increases phenylalanine tolerance in children with severe phenotype of phenylketonuria

Keywords: Tetrahydrobiopterin; BH4; BH4-responsive; Hyperphenylalaninemia; Phenylketonuria; Classic; PKU;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2005 سفارش ترجمه

Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: A pilot study

Keywords: PKU; Tetrahydrobiopterin; Phenylketonuria;

دانلود رایگان متن کامل مقاله ISI 5 صفحه سال انتشار : 2005 سفارش ترجمه

Kinetic and stability analysis of PKU mutations identified in BH4-responsive patients

Keywords: PKU; Tetrahydrobiopterin; PAH gene mutations; KM mutants; Chemical chaperon;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2005 سفارش ترجمه

Spanish BH4-responsive phenylalanine hydroxylase-deficient patients: Evolution of seven patients on long-term treatment with tetrahydrobiopterin

Keywords: Tetrahydrobiopterin; BH4; Phenylalanine hydroxylase; PAH; Phenylketonuria; PKU; Treatment; BH4 loading test;

دانلود رایگان متن کامل مقاله ISI 6 صفحه سال انتشار : 2005 سفارش ترجمه

Policy issues for expanding newborn screening programs: The cystic fibrosis newborn screening experience in the United States

Keywords: CDC; Centers for Disease Control; CF; Cystic fibrosis; IRT; Immunoreactive trypsinogen; NBS; Newborn screening; PKU; Phenylketonuria; PPV; Positive predictive value;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2005 سفارش ترجمه

Site-directed mutagenesis of cysteine residues of large neutral amino acid transporter LAT1

Keywords: Phenylketonuria; PKU; Brain amino acid transport; LAT1; Site-directed mutagenesis;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2005 سفارش ترجمه

Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy

Keywords: Tetrahydrobiopterin; BH4 responsiveness; Hyperphenylalaninemia; Phenylketonuria; Nutritional status; PKU;

دانلود رایگان متن کامل مقاله ISI 7 صفحه سال انتشار : 2005 سفارش ترجمه

The Importance of Calcium-Binding Proteins in Childhood Diseases

Keywords: AGE; Advanced glycation end-products; ALS; Amyotrophic lateral sclerosis; CaSR; Ca2+-signaling receptor; FHH; Familial hypocalciuric hypercalcemia; JIA; Juvenile idiopathic arthritis; PKU; Phenylketonuria; PTH; Parathyroid hormone; RAGE; Receptor for adva

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2005 سفارش ترجمه

Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper

Keywords: Phenylketonuria; PKU; Tetrahydrobiopterin;

دانلود رایگان متن کامل مقاله ISI 8 صفحه سال انتشار : 2005 سفارش ترجمه