Detalhe da pesquisa
1.
Clinical Approach to Mast Cell Activation Syndrome: A Practical Overview.
J Investig Allergol Clin Immunol
; 31(6): 461-470, 2021 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33541851
2.
UX007 for the treatment of long chain-fatty acid oxidation disorders: Safety and efficacy in children and adults following 24weeks of treatment.
Mol Genet Metab
; 120(4): 370-377, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28189603
3.
Glutamine and hyperammonemic crises in patients with urea cycle disorders.
Mol Genet Metab
; 117(1): 27-32, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26586473
4.
Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.
J Med Genet
; 50(7): 463-72, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23644449
5.
Elevated phenylacetic acid levels do not correlate with adverse events in patients with urea cycle disorders or hepatic encephalopathy and can be predicted based on the plasma PAA to PAGN ratio.
Mol Genet Metab
; 110(4): 446-53, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24144944
6.
Recommendations for the use of in vitro methods to detect specific immunoglobulin E: are they comparable?
J Investig Allergol Clin Immunol
; 23(7): 448-54; quiz 2 p preceding 455, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24654308
7.
Urinary phenylacetylglutamine as dosing biomarker for patients with urea cycle disorders.
Mol Genet Metab
; 107(3): 308-14, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-22958974
8.
Heterogeneity in allergy to mollusks: a clinical-immunological study in a population from the North of Spain.
J Investig Allergol Clin Immunol
; : 0, 2017 Jan 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28045373
9.
Radical Nephroureterectomy Tetrafecta: A Proposal Reporting Surgical Strategy Quality at Surgery.
Eur Urol Open Sci
; 42: 1-8, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35911084
10.
Lck domains differentially contribute to pre-T cell receptor (TCR)- and TCR-alpha/beta-regulated developmental transitions.
J Exp Med
; 191(4): 703-16, 2000 Feb 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-10684862
11.
Allergy to quinolones: low cross-reactivity to levofloxacin.
J Investig Allergol Clin Immunol
; 20(7): 607-11, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-21314003
12.
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
Hum Mutat
; 29(2): 330-1, 2008 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18205204
13.
Diagnosis of clavulanic acid allergy using basophil activation and leukotriene release by basophils.
J Investig Allergol Clin Immunol
; 18(6): 473-5, 2008.
Artigo
em Inglês
| MEDLINE | ID: mdl-19123441
14.
Combination of enzyme analysis, allele-specific PCR and sequencing to detect mutations in the GALT gene.
J Inherit Metab Dis
; 30(5): 818, 2007 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-17876724
15.
Noninvasive measurement of phenylalanine by iontophoretic extraction in patients with phenylketonuria.
J Inherit Metab Dis
; 30(6): 910-5, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17912613
16.
Predictive factors of overall and major postoperative complications after partial nephrectomy: Results from a multicenter prospective study (The RECORd 1 project).
Eur J Surg Oncol
; 43(4): 823-830, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-27876194
17.
Effects of alpha1-blockers on urodynamic parameters of bladder outlet obstruction in patients with lower urinary tract symptoms suggestive of benign prostatic enlargement: a review.
Minerva Urol Nefrol
; 68(2): 209-21, 2016 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-26506058
18.
Creatine transporter deficiency: Novel mutations and functional studies.
Mol Genet Metab Rep
; 8: 20-3, 2016 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-27408820
19.
Functional characterization of an EGF receptor with a truncated extracellular domain expressed in glioblastomas with EGFR gene amplification.
Oncogene
; 9(8): 2313-20, 1994 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-8036013
20.
Altered subcellular location of an activated and tumour-associated epidermal growth factor receptor.
Oncogene
; 10(7): 1455-60, 1995 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-7731699