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.
The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.
J Inherit Metab Dis
; 2023 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38044746
3.
Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders.
Dev Med Child Neurol
; 64(12): 1539-1546, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35833379
4.
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
5.
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
6.
Disorders affecting vitamin B6 metabolism.
J Inherit Metab Dis
; 42(4): 629-646, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30671974
7.
Pyridoxamine and pyridoxal are more effective than pyridoxine in rescuing folding-defective variants of human alanine:glyoxylate aminotransferase causing primary hyperoxaluria type I.
Hum Mol Genet
; 24(19): 5500-11, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26199318
8.
An LC-MS/MS-Based Method for the Quantification of Pyridox(am)ine 5'-Phosphate Oxidase Activity in Dried Blood Spots from Patients with Epilepsy.
Anal Chem
; 89(17): 8892-8900, 2017 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28782931
9.
Mutations in SLC25A22: hyperprolinaemia, vacuolated fibroblasts and presentation with developmental delay.
J Inherit Metab Dis
; 40(3): 385-394, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28255779
10.
Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.
J Inherit Metab Dis
; 40(3): 423-431, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28205048
11.
Expanding the phenotype in argininosuccinic aciduria: need for new therapies.
J Inherit Metab Dis
; 40(3): 357-368, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28251416
12.
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Brain
; 139(11): 2844-2854, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27604308
13.
RARS2 mutations in a sibship with infantile spasms.
Epilepsia
; 57(5): e97-e102, 2016 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-27061686
14.
Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man.
Am J Hum Genet
; 90(3): 457-66, 2012 Mar 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-22341972
15.
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome.
Brain
; 137(Pt 5): 1350-60, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24645144
16.
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.
Am J Hum Genet
; 99(2): 521, 2016 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27486784
17.
Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
J Inherit Metab Dis
; 37(5): 851-61, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24658845
18.
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Sci Transl Med
; 16(729): eadh1334, 2024 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38198573
19.
Measurement of plasma B6 vitamer profiles in children with inborn errors of vitamin B6 metabolism using an LC-MS/MS method.
J Inherit Metab Dis
; 36(1): 139-45, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22576361
20.
Mutations in antiquitin in individuals with pyridoxine-dependent seizures.
Nat Med
; 12(3): 307-9, 2006 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-16491085