Detalhe da pesquisa
1.
The Genetic Landscape and Epidemiology of Phenylketonuria.
Am J Hum Genet
; 107(2): 234-250, 2020 08 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32668217
2.
Diagnosing and treating anterior pituitary hormone deficiency in pediatric patients.
Rev Endocr Metab Disord
; 2023 Dec 19.
Artigo
Inglês
| MEDLINE | ID: mdl-38112850
3.
Targeted Next-Generation Sequencing of Congenital Hypothyroidism-Causative Genes Reveals Unexpected Thyroglobulin Gene Variants in Patients with Iodide Transport Defect.
Int J Mol Sci
; 23(16)2022 Aug 17.
Artigo
Inglês
| MEDLINE | ID: mdl-36012511
4.
Improving safety in paediatric thyroidectomy by PTH measurements.
Clin Endocrinol (Oxf)
; 95(5): 760-765, 2021 11.
Artigo
Inglês
| MEDLINE | ID: mdl-34219257
5.
International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Mol Genet Metab
; 127(1): 1-11, 2019 05.
Artigo
Inglês
| MEDLINE | ID: mdl-31103398
6.
Differentiated Thyroid Cancer in Children: Prevalence and Predictors in a Large Cohort with Thyroid Nodules Followed Prospectively.
J Pediatr
; 167(1): 199-201, 2015 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-26117640
7.
Adherence to PKU guidelines among patients with phenylketonuria: A cross-sectional national multicenter survey-based study in Argentina, Brazil, and Mexico.
Mol Genet Metab Rep
; 38: 101026, 2024 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-38077955
8.
Congenital goitrous hypothyroidism: mutation analysis in the thyroid peroxidase gene.
Clin Endocrinol (Oxf)
; 76(4): 568-76, 2012 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-21981063
9.
Diversity of approaches to classic galactosemia around the world: a comparison of diagnosis, intervention, and outcomes.
J Inherit Metab Dis
; 35(6): 1037-49, 2012 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-22450714
10.
Meeting Reports: 2016 Annual Meeting of the Sociedad Latinoamericana de Endocrinología Pediátrica (SLEP) Buenos Aires, Argentina (November 8-11, 2016), Selected Highlights.
Pediatr Endocrinol Rev
; 14(4): 390-401, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28613050
11.
An Intramolecular Ionic Interaction Linking Defective Sodium/Iodide Symporter Transport to the Plasma Membrane and Dyshormonogenic Congenital Hypothyroidism.
Thyroid
; 32(1): 19-27, 2022 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34726525
12.
Mutational screening of the TPO and DUOX2 genes in Argentinian children with congenital hypothyroidism due to thyroid dyshormonogenesis.
Endocrine
; 77(1): 86-101, 2022 06.
Artigo
Inglês
| MEDLINE | ID: mdl-35507000
13.
Galactose epimerase deficiency: lessons from the GalNet registry.
Orphanet J Rare Dis
; 17(1): 331, 2022 09 02.
Artigo
Inglês
| MEDLINE | ID: mdl-36056436
14.
46,XX ovotesticular DSD associated with a SOX3 gene duplication in a SRY-negative boy.
Clin Endocrinol (Oxf)
; 85(4): 673-5, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27260338
15.
Differentiated thyroid carcinoma: presentation and follow-up in children and adolescents.
J Pediatr Endocrinol Metab
; 24(9-10): 743-8, 2011.
Artigo
Inglês
| MEDLINE | ID: mdl-22145467
16.
Update on Neonatal Isolated Hyperthyrotropinemia: A Systematic Review.
Front Endocrinol (Lausanne)
; 12: 643307, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34484109
17.
A novel mutation in intron 11 donor splice site, responsible of a rare genotype in thyroglobulin gene by altering the pre-mRNA splincing process. Cell expression and bioinformatic analysis.
Mol Cell Endocrinol
; 522: 111124, 2021 02 15.
Artigo
Inglês
| MEDLINE | ID: mdl-33321114
18.
Current Practices and Challenges in the Diagnosis and Management of PKU in Latin America: A Multicenter Survey.
Nutrients
; 13(8)2021 Jul 27.
Artigo
Inglês
| MEDLINE | ID: mdl-34444728
19.
Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis. Identification of a novel c.7006C>T [p.R2317X] mutation and expression of minigenes containing nonsense mutations in exon 7.
Clin Endocrinol (Oxf)
; 72(1): 112-21, 2010 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-19438905
20.
17alpha-hydroxyprogesterone and cortisol serum levels in neonates and young children: influence of age, gestational age, gender and methodological procedures.
J Pediatr Endocrinol Metab
; 23(1-2): 121-32, 2010.
Artigo
Inglês
| MEDLINE | ID: mdl-20432815