Detalhe da pesquisa
1.
Lethal neonatal case and review of primary short-chain enoyl-CoA hydratase (SCEH) deficiency associated with secondary lymphocyte pyruvate dehydrogenase complex (PDC) deficiency.
Mol Genet Metab
; 120(4): 342-349, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28202214
2.
Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
Mol Genet Metab
; 116(1-2): 35-43, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26026794
3.
Tacrolimus and sirolimus in capillary dried blood spots allows for remote monitoring.
Pediatr Transplant
; 19(1): 101-6, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25414084
4.
Exposure to environmental tobacco smoke during pregnancy in rats yields less effect on indices of brain cell number and size than does postnatal exposure.
Reprod Toxicol
; 27(1): 22-7, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19059474
5.
Validation of a therapeutic range for nitisinone in patients treated for tyrosinemia type 1 based on reduction of succinylacetone excretion.
JIMD Rep
; 46(1): 75-78, 2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240158
6.
One-year pilot study on the effects of nitisinone on melanin in patients with OCA-1B.
JCI Insight
; 4(2)2019 Jan 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-30674731
7.
Quantifying MMA by SLE LC-MS/MS: Unexpected challenges in assay development.
Clin Biochem
; 49(13-14): 967-72, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27208560
8.
Expression of human paraoxonase (PON1) during development.
Pharmacogenetics
; 13(6): 357-64, 2003 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-12777966
9.
Algorithm for locating analytes of interest based on mass spectral similarity in GC x GC-TOF-MS data: analysis of metabolites in human infant urine.
J Chromatogr A
; 1058(1-2): 209-15, 2004 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-15595670
10.
Improving the value of costly genetic reference laboratory testing with active utilization management.
Arch Pathol Lab Med
; 138(1): 110-3, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24377818
11.
Analysis of vanillylmandelic acid and homovanillic acid by UPLC-MS/MS in serum for diagnostic testing for neuroblastoma.
Clin Chim Acta
; 424: 253-7, 2013 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-23830883
12.
Clinical validation and implementation of a multiplexed immunosuppressant assay in dried blood spots by LC-MS/MS.
Clin Chim Acta
; 421: 152-6, 2013 Jun 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-23473895
13.
False-Positive Total T3 Using the Ortho Vitros Immunoassay in Pediatric Populations.
J Appl Lab Med
; 1(6): 751-753, 2017 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33379814
14.
Another laboratory test utilization program: our approach to reducing unnecessary 1,25-dihydroxyvitamin D orders with a simple intervention.
Am J Clin Pathol
; 140(3): 446-7, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23955464
15.
The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease.
Genet Med
; 8(5): 307-12, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16702881
16.
Fisher ratio method applied to third-order separation data to identify significant chemical components of metabolite extracts.
Anal Chem
; 78(14): 5068-75, 2006 Jul 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16841931