Detalles de la búsqueda
1.
Cystathionine ß-synthase deficiency in the E-HOD registry-part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.
J Inherit Metab Dis
; 44(3): 677-692, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33295057
2.
Long-term uninterrupted enzyme replacement therapy prevents liver disease in murine model of severe homocystinuria.
Hum Mutat
; 41(9): 1662-1670, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32623804
3.
Comprehensive characterization of ureagenesis in the spfash mouse, a model of human ornithine transcarbamylase deficiency, reveals age-dependency of ammonia detoxification.
J Inherit Metab Dis
; 42(6): 1064-1076, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30714172
4.
Enzyme Replacement Therapy Ameliorates Multiple Symptoms of Murine Homocystinuria.
Mol Ther
; 26(3): 834-844, 2018 03 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29398487
5.
Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).
Toxicol Appl Pharmacol
; 353: 102-108, 2018 08 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-29935280
6.
Enzyme replacement prevents neonatal death, liver damage, and osteoporosis in murine homocystinuria.
FASEB J
; 31(12): 5495-5506, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-28821635
7.
A homozygous deletion in the SLC19A1 gene as a cause of folate-dependent recurrent megaloblastic anemia.
Blood
; 135(26): 2427-2431, 2020 06 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-32276275
8.
Activity of the liver enzyme ornithine carbamoyltransferase (OTC) in blood: LC-MS/MS assay for non-invasive diagnosis of ornithine carbamoyltransferase deficiency.
Clin Chem Lab Med
; 55(8): 1168-1177, 2017 Jul 26.
Artículo
en Inglés
| MEDLINE | ID: mdl-28107167
9.
Chaperone therapy for homocystinuria: the rescue of CBS mutations by heme arginate.
J Inherit Metab Dis
; 38(2): 287-94, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25331909
10.
Biochemical properties of nematode O-acetylserine(thiol)lyase paralogs imply their distinct roles in hydrogen sulfide homeostasis.
Biochim Biophys Acta
; 1834(12): 2691-701, 2013 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-24100226
11.
Primary hepatocytes from mice lacking cysteine dioxygenase show increased cysteine concentrations and higher rates of metabolism of cysteine to hydrogen sulfide and thiosulfate.
Amino Acids
; 46(5): 1353-65, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24609271
12.
Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function.
Redox Biol
; 73: 103222, 2024 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-38843767
13.
Dietary sulfur amino acid restriction in humans with overweight and obesity: Evidence of an altered plasma and urine sulfurome, and a novel metabolic signature that correlates with loss of fat mass and adipose tissue gene expression.
Redox Biol
; 73: 103192, 2024 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-38776754
14.
Novel structural arrangement of nematode cystathionine ß-synthases: characterization of Caenorhabditis elegans CBS-1.
Biochem J
; 443(2): 535-47, 2012 Apr 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22240119
15.
Clinical picture of S-adenosylhomocysteine hydrolase deficiency resembles phosphomannomutase 2 deficiency.
Mol Genet Metab
; 107(3): 611-3, 2012 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-22959829
16.
Human ultrarare genetic disorders of sulfur metabolism demonstrate redundancies in H2S homeostasis.
Redox Biol
; 58: 102517, 2022 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-36306676
17.
Restoring assembly and activity of cystathionine ß-synthase mutants by ligands and chemical chaperones.
J Inherit Metab Dis
; 34(1): 39-48, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-20490928
18.
Determination of cystathionine beta-synthase activity in human plasma by LC-MS/MS: potential use in diagnosis of CBS deficiency.
J Inherit Metab Dis
; 34(1): 49-55, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-20821054
19.
Absence of MMACHC in peripheral retinal cells does not lead to an ocular phenotype in mice.
Biochim Biophys Acta Mol Basis Dis
; 1867(10): 166201, 2021 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-34147638
20.
Knock-Out of Retrovirus Receptor Gene Tva in the Chicken Confers Resistance to Avian Leukosis Virus Subgroups A and K and Affects Cobalamin (Vitamin B12)-Dependent Level of Methylmalonic Acid.
Viruses
; 13(12)2021 12 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-34960774