Detalhe da pesquisa
1.
Host-Microbe Co-metabolism Dictates Cancer Drug Efficacy in C. elegans.
Cell
; 169(3): 442-456.e18, 2017 04 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-28431245
2.
Comparative proximity biotinylation implicates the small GTPase RAB18 in sterol mobilization and biosynthesis.
J Biol Chem
; 299(11): 105295, 2023 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-37774976
3.
Obesity-Associated GNAS Mutations and the Melanocortin Pathway.
N Engl J Med
; 385(17): 1581-1592, 2021 10 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-34614324
4.
Growth of twins conceived using assisted reproductive treatments up to 5 years old: a national growth cohort.
Hum Reprod
; 38(4): 751-761, 2023 04 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36763679
5.
New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.
Int J Mol Sci
; 24(12)2023 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-37373322
6.
Homozygous missense variants in BMPR15 can result in primary ovarian insufficiency.
Reprod Biomed Online
; 45(4): 727-729, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35781182
7.
Tissue Proteome of 2-Hydroxyacyl-CoA Lyase Deficient Mice Reveals Peroxisome Proliferation and Activation of ω-Oxidation.
Int J Mol Sci
; 23(2)2022 Jan 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-35055171
8.
Gene expression signatures predict response to therapy with growth hormone.
Pharmacogenomics J
; 21(5): 594-607, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34045667
9.
Pharmacogenomics applied to recombinant human growth hormone responses in children with short stature.
Rev Endocr Metab Disord
; 22(1): 135-143, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33712998
10.
Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to α-aminoadipic semialdehyde dehydrogenase deficiency.
J Inherit Metab Dis
; 44(1): 178-192, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33200442
11.
Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease.
J Med Genet
; 57(1): 38-47, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31519711
12.
Combined effects of weight change trajectories and eating behaviors on childhood adiposity status: A birth cohort study.
Appetite
; 162: 105174, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33636216
13.
Characterization of Novel Pathogenic Variants Causing Pyridox(am)ine 5'-Phosphate Oxidase-Dependent Epilepsy.
Int J Mol Sci
; 22(21)2021 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-34769443
14.
SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.
Hum Mol Genet
; 27(11): 1927-1940, 2018 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29635513
15.
PDXK mutations cause polyneuropathy responsive to pyridoxal 5'-phosphate supplementation.
Ann Neurol
; 86(2): 225-240, 2019 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-31187503
16.
The effectiveness of correcting abnormal metabolic profiles.
J Inherit Metab Dis
; 43(1): 2-13, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31222759
17.
Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.
Brain
; 142(11): 3382-3397, 2019 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31637422
18.
Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C.
J Lipid Res
; 60(12): 2074-2081, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31586016
19.
Maternal glucose levels during pregnancy and childhood adiposity in the Hyperglycemia and Adverse Pregnancy Outcome Follow-up Study.
Diabetologia
; 62(4): 598-610, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30648193
20.
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.
Am J Hum Genet
; 99(6): 1325-1337, 2016 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27912044