Detalhe da pesquisa
1.
3-Hydroxyisobutyric acid dehydrogenase deficiency: Expanding the clinical spectrum and quantitation of D- and L-3-Hydroxyisobutyric acid by an LC-MS/MS method.
J Inherit Metab Dis
; 45(3): 445-455, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-35174513
2.
Oral aversion to dietary sugar, ethanol and glycerol correlates with alterations in specific hepatic metabolites in a mouse model of human citrin deficiency.
Mol Genet Metab
; 120(4): 306-316, 2017 04.
Artigo
Inglês
| MEDLINE | ID: mdl-28259708
3.
Mechanism for increased hepatic glycerol synthesis in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse: Urine glycerol and glycerol 3-phosphate as potential diagnostic markers of human citrin deficiency.
Biochim Biophys Acta
; 1852(9): 1787-95, 2015 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-25952905
4.
A novel genetic locus linked to pro-inflammatory cytokines after virulent H5N1 virus infection in mice.
BMC Genomics
; 15: 1017, 2014 Nov 24.
Artigo
Inglês
| MEDLINE | ID: mdl-25418976
5.
Effects of supplementation on food intake, body weight and hepatic metabolites in the citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mouse model of human citrin deficiency.
Mol Genet Metab
; 107(3): 322-9, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22921887
6.
Metabolomic analysis reveals hepatic metabolite perturbations in citrin/mitochondrial glycerol-3-phosphate dehydrogenase double-knockout mice, a model of human citrin deficiency.
Mol Genet Metab
; 104(4): 492-500, 2011 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-21908222
7.
Genetic architecture of complex traits: large phenotypic effects and pervasive epistasis.
Proc Natl Acad Sci U S A
; 105(50): 19910-4, 2008 Dec 16.
Artigo
Inglês
| MEDLINE | ID: mdl-19066216
8.
Analyzing complex traits with congenic strains.
Mamm Genome
; 21(5-6): 276-86, 2010 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-20524000
9.
Genetic resistance to diet-induced obesity in chromosome substitution strains of mice.
Mamm Genome
; 21(3-4): 115-29, 2010 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-20127486
10.
Transiently elevated plasma methionine, S-adenosylmethionine and S-adenosylhomocysteine: Unreported laboratory findings in a patient with NGLY1 deficiency, a congenital disorder of deglycosylation.
JIMD Rep
; 49(1): 21-29, 2019 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-31497478
11.
Characterization of the C584R variant in the mtDNA depletion syndrome gene FBXL4, reveals a novel role for FBXL4 as a regulator of mitochondrial fusion.
Biochim Biophys Acta Mol Basis Dis
; 1865(11): 165536, 2019 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-31442532
12.
Pivotal role of inter-organ aspartate metabolism for treatment of mitochondrial aspartate-glutamate carrier 2 (citrin) deficiency, based on the mouse model.
Sci Rep
; 9(1): 4179, 2019 03 12.
Artigo
Inglês
| MEDLINE | ID: mdl-30862943
13.
Mice with a deletion in the gene for CCAAT/enhancer-binding protein beta are protected against diet-induced obesity.
Diabetes
; 56(1): 161-7, 2007 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-17192478
14.
Slc25a13-knockout mice harbor metabolic deficits but fail to display hallmarks of adult-onset type II citrullinemia.
Mol Cell Biol
; 24(2): 527-36, 2004 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-14701727
15.
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
Pediatr Neurol
; 74: 87-91.e2, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28662915
16.
Genetic factors for resistance to diet-induced obesity and associated metabolic traits on mouse chromosome 17.
Mamm Genome
; 20(2): 71-82, 2009 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-19137372
17.
Citrin/mitochondrial glycerol-3-phosphate dehydrogenase double knock-out mice recapitulate features of human citrin deficiency.
J Biol Chem
; 282(34): 25041-52, 2007 Aug 24.
Artigo
Inglês
| MEDLINE | ID: mdl-17591776
18.
Pyruvate ameliorates the defect in ureogenesis from ammonia in citrin-deficient mice.
J Hepatol
; 44(5): 930-8, 2006 May.
Artigo
Inglês
| MEDLINE | ID: mdl-16458993