| 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
|
Journal description