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1.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Feb 24.
Artículo
en Inglés
| MEDLINE | ID: mdl-38411040
2.
Children with atopic dermatitis show increased activity of ß-glucocerebrosidase and stratum corneum levels of glucosylcholesterol that are strongly related to the local cytokine milieu.
Br J Dermatol
; 186(6): 988-996, 2022 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-34993951
3.
The pathophysiology of human obstructive cholestasis is mimicked in cholestatic Gold Syrian hamsters.
Biochim Biophys Acta Mol Basis Dis
; 1864(3): 942-951, 2018 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-29196240
4.
Phenotypic and clinical implications of variants in the dihydropyrimidine dehydrogenase gene.
Biochim Biophys Acta
; 1862(4): 754-762, 2016 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-26804652
5.
Dihydropyrimidinase deficiency in four East Asian patients due to novel and rare DPYS mutations affecting protein structural integrity and catalytic activity.
Mol Genet Metab
; 122(4): 216-222, 2017 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29054612
6.
Novel PRPS1 gain-of-function mutation in a patient with congenital hyperuricemia and facial anomalies.
Am J Med Genet A
; 173(10): 2736-2742, 2017 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-28742244
7.
Clinical, biochemical and molecular analysis of 13 Japanese patients with ß-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
J Inherit Metab Dis
; 37(5): 801-12, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24526388
8.
Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.
Am J Med Genet A
; 158A(2): 455-60, 2012 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-22246954
9.
6-mercaptopurine inhibits atherosclerosis in apolipoprotein e*3-leiden transgenic mice through atheroprotective actions on monocytes and macrophages.
Arterioscler Thromb Vasc Biol
; 30(8): 1591-7, 2010 Aug.
Artículo
en Inglés
| MEDLINE | ID: mdl-20413732
10.
Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency).
Mol Genet Metab Rep
; 26: 100709, 2021 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-33532242
11.
Atypical presentation of Arts syndrome due to a novel hemizygous loss-of-function variant in the PRPS1 gene.
Mol Genet Metab Rep
; 25: 100677, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-33294372
12.
Prenatal growth restriction, retinal dystrophy, diabetes insipidus and white matter disease: expanding the spectrum of PRPS1-related disorders.
Eur J Hum Genet
; 23(3): 310-6, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24961627
13.
Hydrogen sulfide donor NaHS reduces organ injury in a rat model of pneumococcal pneumosepsis, associated with improved bio-energetic status.
PLoS One
; 8(5): e63497, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23717435
14.
Cholestasis is associated with hepatic microvascular dysfunction and aberrant energy metabolism before and during ischemia-reperfusion.
Antioxid Redox Signal
; 17(8): 1109-23, 2012 Oct 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-22482833
15.
Mycophenolate mofetil inhibits T-cell proliferation in kidney transplant recipients without lowering intracellular dGTP and GTP.
Transpl Int
; 21(11): 1066-71, 2008 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-18699845
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