Detalhe da pesquisa
1.
BCKDK deficiency: a treatable neurodevelopmental disease amenable to newborn screening.
Brain
; 146(7): 3003-3013, 2023 07 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36729635
2.
Renal function, sex and age influence purines and pyrimidines in urine and could lead to diagnostic misinterpretation.
Mol Genet Metab
; 140(3): 107649, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37517327
3.
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Brain
; 145(7): 2602-2616, 2022 07 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-35104841
4.
Prevalence of antibodies against SARS-CoV-2 among pregnant women in Norway during the period December 2019 through December 2020.
Epidemiol Infect
; 150: e28, 2022 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-35022102
5.
High Plasma Oxalate Levels Early After Kidney Transplantation Are Associated With Impaired Long-Term Outcomes.
Transpl Int
; 35: 10240, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35368646
6.
Higher vitamin B12 levels in neurodevelopmental disorders than in healthy controls and schizophrenia: A comparison among participants between 2 and 53 years.
FASEB J
; 34(6): 8114-8124, 2020 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-32323402
7.
Phosphoglucomutase-1 deficiency: Early presentation, metabolic management and detection in neonatal blood spots.
Mol Genet Metab
; 131(1-2): 135-146, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33342467
8.
HLA-DQ-Gluten Tetramer Blood Test Accurately Identifies Patients With and Without Celiac Disease in Absence of Gluten Consumption.
Gastroenterology
; 154(4): 886-896.e6, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29146521
9.
Estimating glomerular filtration rate in children: evaluation of creatinine- and cystatin C-based equations.
Pediatr Nephrol
; 34(2): 301-311, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30171354
10.
Precision newborn screening for lysosomal disorders.
Genet Med
; 20(8): 847-854, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29120458
11.
PGM3 mutations cause a congenital disorder of glycosylation with severe immunodeficiency and skeletal dysplasia.
Am J Hum Genet
; 95(1): 96-107, 2014 Jul 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-24931394
12.
High-Sensitivity Troponin T vs I in Acute Coronary Syndrome: Prediction of Significant Coronary Lesions and Long-term Prognosis.
Clin Chem
; 63(2): 552-562, 2017 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-27974383
13.
Effect of multiple freeze-thaw cycles on selected biochemical serum components.
Clin Chem Lab Med
; 55(7): 967-973, 2017 Jun 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-27987362
14.
Blood removal therapy in hereditary hemochromatosis induces a stress response resulting in improved genome integrity.
Transfusion
; 56(6): 1435-41, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27045387
15.
Susceptibility to infections, without concomitant hyper-IgE, reported in 1976, is caused by hypomorphic mutation in the phosphoglucomutase 3 (PGM3) gene.
Clin Immunol
; 161(2): 366-72, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26482871
16.
Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.
Clin Chem
; 61(5): 760-8, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25759465
17.
Streamlined determination of lysophosphatidylcholines in dried blood spots for newborn screening of X-linked adrenoleukodystrophy.
Mol Genet Metab
; 114(1): 46-50, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25481105
18.
HE4 as an Early Detection Biomarker of Epithelial Ovarian Cancer: Investigations in Prediagnostic Specimens From the Janus Serumbank.
Int J Gynecol Cancer
; 25(9): 1608-15, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26501436
19.
Glomerular filtration rate measured by iohexol clearance: A comparison of venous samples and capillary blood spots.
Scand J Clin Lab Invest
; 75(8): 710-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26426851
20.
Sensitive troponin assays and N-terminal pro-B-type natriuretic peptide in acute coronary syndrome: prediction of significant coronary lesions and long-term prognosis.
Am Heart J
; 165(5): 716-24, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23622908