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1.
Phenotype and pathology of the dilated cardiomyopathy with ataxia syndrome in children.
J Inherit Metab Dis
; 45(2): 366-376, 2022 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-34580891
2.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-35174513
3.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-28259708
4.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-25952905
5.
A novel genetic locus linked to pro-inflammatory cytokines after virulent H5N1 virus infection in mice.
BMC Genomics
; 15: 1017, 2014 Nov 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-25418976
6.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-22921887
7.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-21908222
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-19066216
9.
Analyzing complex traits with congenic strains.
Mamm Genome
; 21(5-6): 276-86, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20524000
10.
Genetic resistance to diet-induced obesity in chromosome substitution strains of mice.
Mamm Genome
; 21(3-4): 115-29, 2010 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-20127486
11.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31497478
12.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-31442532
13.
Hybrid gel electrophoresis using skin fibroblasts to aid in diagnosing mitochondrial disease.
Neurol Genet
; 5(3): e336, 2019 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-31192304
14.
PISD is a mitochondrial disease gene causing skeletal dysplasia, cataracts, and white matter changes.
Life Sci Alliance
; 2(2)2019 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30858161
15.
SS-31 Peptide Reverses the Mitochondrial Fragmentation Present in Fibroblasts From Patients With DCMA, a Mitochondrial Cardiomyopathy.
Front Cardiovasc Med
; 6: 167, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31803760
16.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-30862943
17.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-17192478
18.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-14701727
19.
A New Patient With Intermediate Severe Salla Disease With Hypomyelination: A Literature Review for Salla Disease.
Pediatr Neurol
; 74: 87-91.e2, 2017 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-28662915
20.
ALG9-CDG: New clinical case and review of the literature.
Mol Genet Metab Rep
; 13: 55-63, 2017 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-28932688