Detalhe da pesquisa
1.
Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine.
Mol Genet Metab
; 119(1-2): 83-90, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27370710
2.
Genome Evolution and Nitrogen Fixation in Bacterial Ectosymbionts of a Protist Inhabiting Wood-Feeding Cockroaches.
Appl Environ Microbiol
; 82(15): 4682-4695, 2016 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27235430
3.
Modeling correction of severe urea cycle defects in the growing murine liver using a hybrid recombinant adeno-associated virus/piggyBac transposase gene delivery system.
Hepatology
; 62(2): 417-28, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-26011400
4.
Direct chemical evidence for sphingolipid domains in the plasma membranes of fibroblasts.
Proc Natl Acad Sci U S A
; 110(8): E613-22, 2013 Feb 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-23359681
5.
Molecular Evidence for the Polyphyly of Macrotrichomonas (Parabasalia: Cristamonadea) and a Proposal for Macrotrichomonoides n. gen.
J Eukaryot Microbiol
; 62(4): 494-504, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25600410
6.
The phylogenetic position of Kofoidia loriculata (Parabasalia) and its implications for the evolution of the Cristamonadea.
J Eukaryot Microbiol
; 62(2): 255-9, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25155455
7.
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Brain
; 137(Pt 1): 44-56, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24253200
8.
Expanded newborn screening in New South Wales: missed cases.
J Inherit Metab Dis
; 37(6): 881-7, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24970580
9.
Adeno-associated virus-mediated rescue of neonatal lethality in argininosuccinate synthetase-deficient mice.
Mol Ther
; 21(10): 1823-31, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-23817206
10.
Morphology and molecular phylogeny of Staurojoenina mulleri sp. nov. (Trichonymphida, Parabasalia) from the hindgut of the kalotermitid Neotermes jouteli.
J Eukaryot Microbiol
; 60(2): 203-13, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23398273
11.
Correlated SEM, FIB-SEM, TEM, and NanoSIMS imaging of microbes from the hindgut of a lower termite: methods for in situ functional and ecological studies of uncultivable microbes.
Microsc Microanal
; 19(6): 1490-501, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24119340
12.
An unusual case of neck pain.
Pediatr Emerg Care
; 29(5): 644-5, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23640143
13.
Human Variome Project country nodes: documenting genetic information within a country.
Hum Mutat
; 33(11): 1513-9, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22753370
14.
Fluorinated colloidal gold immunolabels for imaging select proteins in parallel with lipids using high-resolution secondary ion mass spectrometry.
Bioconjug Chem
; 23(3): 450-60, 2012 Mar 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-22284327
15.
Induction and prevention of severe hyperammonemia in the spfash mouse model of ornithine transcarbamylase deficiency using shRNA and rAAV-mediated gene delivery.
Mol Ther
; 19(5): 854-9, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21386824
16.
Genotype-phenotype correlations in CPT1A deficiency detected by newborn screening in Pacific populations.
JIMD Rep
; 63(4): 322-329, 2022 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-35822099
17.
Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B.
Hum Mutat
; 32(1): E1976-84, 2011 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-21089064
18.
Molecular and morphological analysis of the family Calonymphidae with a description of Calonympha chia sp. nov., Snyderella kirbyi sp. nov., Snyderella swezyae sp. nov. and Snyderella yamini sp. nov.
Int J Syst Evol Microbiol
; 61(Pt 10): 2547-2558, 2011 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-21112987
19.
Symbiosis, morphology, and phylogeny of Hoplonymphidae (Parabasalia) of the wood-feeding roach Cryptocercus punctulatus.
J Eukaryot Microbiol
; 58(5): 426-36, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21699624
20.
Perinatal hypophosphatasia presenting as neonatal epileptic encephalopathy with abnormal neurotransmitter metabolism secondary to reduced co-factor pyridoxal-5'-phosphate availability.
J Inherit Metab Dis
; 33 Suppl 3: S25-33, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20049532