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                             33 results found
no title author magazine year volume issue page(s) type
1 A bioassay for Lafora disease and laforin glucan phosphatase activity Sherwood, Amanda R.
2013
46 18 p. 1869-1876
8 p.
article
2 Altered red cell and platelet adhesion in hemolytic diseases: Hereditary spherocytosis, paroxysmal nocturnal hemoglobinuria and sickle cell disease Sakamoto, Tatiana M.
2013
46 18 p. 1798-1803
6 p.
article
3 A one-step dipstick assay for the on-site detection of nucleic acid Zhang, Shiyin
2013
46 18 p. 1852-1856
5 p.
article
4 Argininosuccinate synthetase gene is silenced by CpG methylation in children with phenylketonuria Li, Li
2013
46 18 p. 1793-1797
5 p.
article
5 Cathepsin D levels are reduced in patients with preeclampsia in Korean population Kim, Ho Yeon
2013
46 18 p. 1808-1811
4 p.
article
6 Chitotriosidase variants in patients with Gaucher disease. Implications for diagnosis and therapeutic monitoring Irún, P.
2013
46 18 p. 1804-1807
4 p.
article
7 Clinical evaluation of a dried blood spot method for determination of mycophenolic acid in renal transplant patients Arpini, Janaíne
2013
46 18 p. 1905-1908
4 p.
article
8 Comparison of three commercial calibrators for alpha-tocopherol using liquid chromatography–tandem mass spectrometry Albahrani, Ali A.
2013
46 18 p. 1884-1888
5 p.
article
9 Detection of three common α-thalassemia in non-deletion types and six common thalassemia in deletion types by QF-PCR Long, Ju
2013
46 18 p. 1860-1864
5 p.
article
10 Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: A twelve-year experience Karam, Pascale E.
2013
46 18 p. 1787-1792
6 p.
article
11 Editorial Board 2013
46 18 p. IFC-
1 p.
article
12 Effects of prolonged blood processing time on non-invasive prenatal testing highlighted Boon, Elles M.J.
2013
46 18 p. 1781-1782
2 p.
article
13 Erratum to “CLSI-based transference of the CALIPER database of pediatric reference intervals from Abbott to Beckman, Ortho, Roche and Siemens Clinical Chemistry Systems: Direct validation using reference samples from the CALIPER cohort” [Clin. Biochem., volume 46 (2013) 1197–1219] Estey, Mathew P.
2013
46 18 p. 1916-
1 p.
article
14 Genetic polymorphisms in Cytochrome P 4501B1 and susceptibility to idiopathic preterm labor in North Indian population Mustafa, MD.
2013
46 18 p. 1812-1815
4 p.
article
15 Impact of endothelial nitric oxide synthase gene polymorphism on severity of enterovirus 71-infection in Chinese children Li, Ji-an
2013
46 18 p. 1842-1847
6 p.
article
16 Impaired paraoxonase-1 status in obese children. Relationships with insulin resistance and metabolic syndrome Ferré, Natàlia
2013
46 18 p. 1830-1836
7 p.
article
17 Letter to the Editor re: “Performance of flow cytometry to screen urine for bacteria and white blood cells prior to urine culture” Kulkarni, Shobhana
2013
46 18 p. 1914-1915
2 p.
article
18 Mutation analysis in hyperphenylalaninemia patients from South Italy Trunzo, Roberta
2013
46 18 p. 1896-1898
3 p.
article
19 Mycophenolic acid quantification in human peripheral blood mononuclear cells using liquid chromatography–tandem mass spectrometry Nguyen Thi, Minh Thuan
2013
46 18 p. 1909-1911
3 p.
article
20 New T530C mutation in the aspartoacylase gene caused Canavan disease with no correlation between severity and N-acetylaspartate excretion Di Pietro, Valentina
2013
46 18 p. 1902-1904
3 p.
article
21 Normative levels of Interleukin 16 in umbilical cord blood Denihan, N.M.
2013
46 18 p. 1857-1859
3 p.
article
22 Novel application of digital microfluidics for the detection of biotinidase deficiency in newborns Graham, Carrie
2013
46 18 p. 1889-1891
3 p.
article
23 Optimization of an HPLC method for phenylalanine and tyrosine quantization in dried blood spot Pecce, Rita
2013
46 18 p. 1892-1895
4 p.
article
24 Pediatric reference values for urine particle quantification by using automated flow cytometer: Results of a multicenter study of Italian urinalysis group Manoni, Fabio
2013
46 18 p. 1820-1824
5 p.
article
25 Phenindione interferes with measurement of creatinine Sankaralingam, A.
2013
46 18 p. 1912-1913
2 p.
article
26 Premature preterm rupture of the membrane diagnosis in early pregnancy: PAMG-1 and IGFBP-1 detection in amniotic fluid with biochemical tests Doret, Muriel
2013
46 18 p. 1816-1819
4 p.
article
27 Reliable noninvasive prenatal testing by massively parallel sequencing of circulating cell-free DNA from maternal plasma processed up to 24h after venipuncture Buysse, Karen
2013
46 18 p. 1783-1786
4 p.
article
28 Simultaneous determination of β-hydroxybutyrate and β-hydroxy-β-methylbutyrate in human whole blood using hydrophilic interaction liquid chromatography electrospray tandem mass spectrometry Sørensen, Lambert K.
2013
46 18 p. 1877-1883
7 p.
article
29 Simultaneous measurement of phenylalanine and tyrosine by high performance liquid chromatography (HPLC) with fluorescence detection Neurauter, Gabriele
2013
46 18 p. 1848-1851
4 p.
article
30 Simultaneous prediction of hyperglycemia and dyslipidemia in school children in Santa Catarina State, Brazil based on waist circumference measurement Rosini, Nilton
2013
46 18 p. 1837-1841
5 p.
article
31 Spectrophotometric quantification of total urinary porphyrins as a screening test for porphyrias: Threshold value revisited Wolff, Fleur
2013
46 18 p. 1825-1829
5 p.
article
32 Spectrum of β-thalassemia mutations in Guizhou Province, PR China, including first observation of codon 121 (GAA>TAA) in Chinese population Huang, Sheng-Wen
2013
46 18 p. 1865-1868
4 p.
article
33 The need for vigilance: False-negative screening for adenylosuccinate lyase deficiency caused by deribosylation of urinary biomarkers Krijt, Jakub
2013
46 18 p. 1899-1901
3 p.
article
                             33 results found
 
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