Detalhe da pesquisa
1.
Perinatal Reduced Blood Concentrations of Free Carnitine and Acylcarnitines in Infants with Cystic Fibrosis.
Am J Perinatol
; 38(8): 828-833, 2021 07.
Artigo
Inglês
| MEDLINE | ID: mdl-31891954
2.
The phenylketonuria patient: A recent dietetic therapeutic approach.
Nutr Neurosci
; 23(8): 628-639, 2020 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-30359206
3.
Birth weight related essential, non-essential and conditionally essential amino acid blood concentrations in 12,000 breastfed full-term infants perinatally.
Scand J Clin Lab Invest
; 80(7): 571-579, 2020 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-32924636
4.
Mutational analysis of GALT gene in Greek patients with galactosaemia: identification of two novel mutations and clinical evaluation.
Scand J Clin Lab Invest
; 77(6): 423-427, 2017 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-28644047
5.
Clinical diagnostic Next-Generation sequencing: the case of CFTR carrier screening.
Scand J Clin Lab Invest
; 75(5): 374-81, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25874479
6.
Glucose-6-Phosphate Dehydrogenase (G6PD) deficiency in Greek newborns: the Mediterranean C563T mutation screening.
Scand J Clin Lab Invest
; 74(3): 259-63, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24460025
7.
Dried Blood Spots in Neonatal Studies: A Computational Analysis for the Role of the Hematocrit Effect.
Pharmaceuticals (Basel)
; 16(8)2023 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-37631041
8.
Novel H2S-Releasing Bifunctional Antihistamine Molecules with Improved Antipruritic and Reduced Sedative Actions.
J Med Chem
; 66(14): 9607-9621, 2023 07 27.
Artigo
Inglês
| MEDLINE | ID: mdl-37409873
9.
Homologous Recombination Deficiency Score Determined by Genomic Instability in a Romanian Cohort.
Diagnostics (Basel)
; 13(11)2023 May 29.
Artigo
Inglês
| MEDLINE | ID: mdl-37296748
10.
Enhanced interpretation of newborn screening results without analyte cutoff values.
Genet Med
; 14(7): 648-55, 2012 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-22766634
11.
The relationship between neurotransmission-related amino acid blood concentrations and neuropsychological performance following acute exercise.
Appl Neuropsychol Adult
; : 1-15, 2022 Feb 28.
Artigo
Inglês
| MEDLINE | ID: mdl-35227132
12.
Mutational analysis for biotinidase deficiency of a Greek patients' cohort ascertained through expanded newborn screening.
J Hum Genet
; 56(12): 861-5, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-22011816
13.
Validation of a novel LC-MS/MS method for the quantitation of colistin A and B in human plasma.
J Sep Sci
; 34(1): 37-45, 2011 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-21171174
14.
Advantages of automation in plasma sample preparation prior to HPLC/MS/MS quantification: application to the determination of cilazapril and cilazaprilat in a bioequivalence study.
J AOAC Int
; 94(3): 758-64, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-21797003
15.
Quantitation and evaluation of perinatal medium-chain and long-chain acylcarnitine blood concentrations in 12,000 full-term breastfed newborns.
J Pediatr Endocrinol Metab
; 34(8): 1023-1030, 2021 Aug 26.
Artigo
Inglês
| MEDLINE | ID: mdl-34167180
16.
Expanded newborn screening in Greece: 30 months of experience.
J Inherit Metab Dis
; 33 Suppl 3: S341-8, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20721692
17.
Dried plasma spots as an alternative sample collection technique for the quantitative LC-MS/MS determination of gabapentin.
Anal Bioanal Chem
; 398(3): 1339-47, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20694811
18.
Validation of a novel, fully automated high throughput high-performance liquid chromatographic/tandem mass Spectrometric method for quantification of pantoprazole in human plasma.
J AOAC Int
; 93(4): 1129-36, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-20922943
19.
Perinatal free carnitine and short chain acylcarnitine blood concentrations in 12,000 full-term breastfed newborns in relation to their birth weight.
Pediatr Neonatol
; 61(6): 620-628, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32771364
20.
Birth weight related blood concentrations of the neurotransmission amino acids glutamine plus glutamate, phenylalanine and tyrosine in full-term breastfed infants perinatally.
J Pediatr Endocrinol Metab
; 33(3): 367-373, 2020 Mar 26.
Artigo
Inglês
| MEDLINE | ID: mdl-32069244