Detalles de la búsqueda
1.
CIAO1 and MMS19 deficiency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders.
Genet Med
; 26(6): 101104, 2024 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-38411040
2.
Glutaminase Deficiency Caused by Short Tandem Repeat Expansion in GLS.
N Engl J Med
; 380(15): 1433-1441, 2019 04 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30970188
3.
ß-Ureidopropionase deficiency due to novel and rare UPB1 mutations affecting pre-mRNA splicing and protein structural integrity and catalytic activity.
Mol Genet Metab
; 136(3): 177-185, 2022 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-35151535
4.
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
5.
Effects of psychological treatment of mental health problems in pregnant women to protect their offspring: randomised controlled trial.
Br J Psychiatry
; 216(4): 182-188, 2020 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-31806071
6.
Genome sequencing reveals a novel genetic mechanism underlying dihydropyrimidine dehydrogenase deficiency: A novel missense variant c.1700G>A and a large intragenic inversion in DPYD spanning intron 8 to intron 12.
Hum Mutat
; 39(7): 947-953, 2018 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-29691939
7.
Capecitabine-based treatment of a patient with a novel DPYD genotype and complete dihydropyrimidine dehydrogenase deficiency.
Int J Cancer
; 142(2): 424-430, 2018 01 15.
Artículo
en Inglés
| MEDLINE | ID: mdl-28929491
8.
Respiratory Health in Adolescents Born Moderately-Late Preterm in a Community-Based Cohort.
J Pediatr
; 203: 429-436, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-30266509
9.
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
10.
Severe fluoropyrimidine toxicity due to novel and rare DPYD missense mutations, deletion and genomic amplification affecting DPD activity and mRNA splicing.
Biochim Biophys Acta Mol Basis Dis
; 1863(3): 721-730, 2017 03.
Artículo
en Inglés
| MEDLINE | ID: mdl-28024938
11.
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
12.
Evaluation of an oral uracil loading test to identify DPD-deficient patients using a limited sampling strategy.
Br J Clin Pharmacol
; 81(3): 553-61, 2016 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-26551538
13.
Altered Pre-mRNA Splicing Caused by a Novel Intronic Mutation c.1443+5G>A in the Dihydropyrimidinase (DPYS) Gene.
Int J Mol Sci
; 17(1)2016 Jan 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-26771602
14.
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
15.
How to move forward in shared decision-making in pediatric palliative care.
Curr Probl Pediatr Adolesc Health Care
; 54(1): 101569, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38355343
16.
Pediatric palliative care across continents: Communication and shared-decision-making.
Curr Probl Pediatr Adolesc Health Care
; 54(1): 101552, 2024 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-38155022
17.
Role of human hypoxanthine guanine phosphoribosyltransferase in activation of the antiviral agent T-705 (favipiravir).
Mol Pharmacol
; 84(4): 615-29, 2013 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-23907213
18.
ß-ureidopropionase deficiency: phenotype, genotype and protein structural consequences in 16 patients.
Biochim Biophys Acta
; 1822(7): 1096-108, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22525402
19.
The resilience of Jewish communities living in the diaspora: a scoping review.
Front Psychol
; 14: 1215404, 2023.
Artículo
en Inglés
| MEDLINE | ID: mdl-37655197
20.
Improvement and implementation of a national individual care plan in paediatric palliative care: a study protocol.
BMJ Paediatr Open
; 7(1)2023 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-36697034