Detalhe da pesquisa
1.
Pilot study of newborn screening for six lysosomal diseases in Brazil.
Mol Genet Metab
; 140(1-2): 107654, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37507255
2.
Fifty years of newborn screening for congenital hypothyroidism: current status in Australasia and the case for harmonisation.
Clin Chem Lab Med
; 60(10): 1551-1561, 2022 09 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-35998658
3.
Isolated autism is not an indication for Smith-Lemli-Opitz syndrome biochemical testing.
J Paediatr Child Health
; 58(4): 630-635, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34773316
4.
Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidoses.
Mol Genet Metab
; 131(1-2): 197-205, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-32739280
5.
Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study.
Clin Chem Lab Med
; 57(12): 1863-1874, 2019 Nov 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-31091195
6.
Comparison of iodine status pre- and post-mandatory iodine fortification of bread in South Australia: a population study using newborn thyroid-stimulating hormone concentration as a marker.
Public Health Nutr
; 22(16): 3063-3072, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31397245
7.
Mutations of protocadherin 19 in female epilepsy (PCDH19-FE) lead to allopregnanolone deficiency.
Hum Mol Genet
; 24(18): 5250-9, 2015 Sep 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26123493
8.
Corrigendum to "Comparative analysis of brain pathology in heparan sulphate storing mucopolysaccharidosis" [Molecular Genetics and Metabolism 131 (2020) pages 197-205].
Mol Genet Metab
; 135(1): 114, 2022 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-34955351
9.
N-butyldeoxynojirimycin treatment restores the innate fear response and improves learning in mucopolysaccharidosis IIIA mice.
Mol Genet Metab
; 118(2): 100-10, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27106513
10.
Screening for Down syndrome in the second trimester of pregnancy.
Aust N Z J Obstet Gynaecol
; 56(1): 19-21, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26437791
11.
Prostaglandin D(2) in inflammatory arthritis and its relation with synovial fluid dendritic cells.
Mediators Inflamm
; 2013: 329494, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23737645
12.
Current State and Innovations in Newborn Screening: Continuing to Do Good and Avoid Harm.
Int J Neonatal Screen
; 9(1)2023 Mar 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-36975853
13.
A rapid method for the screening of fatty acids in lipids in plasma or serum without prior extraction.
Prostaglandins Leukot Essent Fatty Acids
; 178: 102416, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35325692
14.
Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories.
Int J Neonatal Screen
; 8(4)2022 Nov 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-36547379
15.
Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation.
Am J Hum Genet
; 82(2): 432-43, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18252223
16.
Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives.
Int J Neonatal Screen
; 6(4)2020 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33203019
17.
Endogenous plasma carnitine pool composition and response to erythropoietin treatment in chronic haemodialysis patients.
Nephrol Dial Transplant
; 24(3): 990-6, 2009 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-18987259
18.
Genetic susceptibility to viral exposure may increase the risk of cerebral palsy.
Aust N Z J Obstet Gynaecol
; 49(3): 247-53, 2009 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-19566553
19.
Newborn Screening for Lysosomal Storage Disorders: Methodologies for Measurement of Enzymatic Activities in Dried Blood Spots.
Int J Neonatal Screen
; 5(1)2019 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-30957052
20.
Lentiviral-mediated gene therapy for murine mucopolysaccharidosis type IIIA.
Mol Genet Metab
; 93(4): 411-8, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18248829