Detalhe da pesquisa
1.
High-protein goat's milk diet identified through newborn screening: clinical warning of a potentially dangerous dietetic practice.
Public Health Nutr
; 20(15): 2806-2809, 2017 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-28735580
2.
Analysis of the d3-growth hormone receptor polymorphism in large cohorts of small, appropriate and large for gestational age newborns.
Minerva Pediatr
; 68(3): 157-61, 2016 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25411947
3.
Identification of a novel pax8 gene sequence variant in four members of the same family: from congenital hypothyroidism with thyroid hypoplasia to mild subclinical hypothyroidism.
BMC Endocr Disord
; 14: 69, 2014 Aug 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-25146893
4.
Fifteen Years of Iodine Prophylaxis in Italy: Results of a Nationwide Surveillance (Period 2015-2019).
J Clin Endocrinol Metab
; 109(2): e495-e507, 2024 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-37820735
5.
A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?
Arch Endocrinol Metab
; 67(1): 143-149, 2023 Jan 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-36468928
6.
Twenty Years of Neonatal Screening for Congenital Adrenal Hyperplasia in North-Eastern Italy: Role of Liquid Chromatography-Tandem Mass Spectrometry as a Second-Tier Test.
Horm Res Paediatr
; 95(3): 255-263, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35350013
7.
A Gain-of-Function Mutation on BCKDK Gene and Its Possible Pathogenic Role in Branched-Chain Amino Acid Metabolism.
Genes (Basel)
; 13(2)2022 01 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35205278
8.
Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.
Int J Neonatal Screen
; 8(3)2022 Aug 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35997437
9.
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Front Pediatr
; 9: 661416, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34136440
10.
Multiple acyl-COA dehydrogenase deficiency in elderly carriers.
J Neurol
; 267(5): 1414-1419, 2020 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-31997039
11.
Functional studies of new TSH receptor (TSHr) mutations identified in patients affected by hypothyroidism or isolated hyperthyrotrophinaemia.
Clin Endocrinol (Oxf)
; 70(2): 335-8, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18727713
12.
Children with premature pubarche: is an alterated neonatal 17-Ohp screening test a predictive factor?
Ital J Pediatr
; 44(1): 10, 2018 Jan 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-29338783
13.
A young boy with ventricular arrhythmias and thyroid dysgenesis: two genes are not enough?
Arch. endocrinol. metab. (Online)
; 67(1): 143-149, Jan.-Feb. 2023. tab, graf
Artigo
em Inglês
|
LILACS-Express
| ID: biblio-1420096
14.
Implementation of a congenital hypothyroidism newborn screening procedure with mutation detection on genomic DNA extracted from blood spots: the experience of the Italian northeastern reference center.
Genet Test
; 11(4): 387-90, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-18294054
15.
Congenital hypothyroidism with delayed TSH elevation in low-birth-weight infants: incidence, diagnosis and management.
Eur J Endocrinol
; 175(5): 395-402, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27511826
16.
3-hydroxyacyl-coenzyme a dehydrogenase deficiency: identification of a new mutation causing hyperinsulinemic hypoketotic hypoglycemia, altered organic acids and acylcarnitines concentrations.
JIMD Rep
; 2: 71-7, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23430856
17.
Possible andrologic markers in elevated neonatal 17-hydroxyprogesterone.
Fertil Steril
; 94(6): 2350-2, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20537623
18.
Anthropometric traits and aging: a cross-sectional survey in diabetic elderly women.
Arch Gerontol Geriatr
; 48(2): 197-200, 2009.
Artigo
em Inglês
| MEDLINE | ID: mdl-18336934
19.
Subclinical hypothyroidism in children and adolescents: a wide range of clinical, biochemical, and genetic factors involved.
J Clin Endocrinol Metab
; 94(7): 2414-20, 2009 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-19417038
20.
Prepubertal serum inhibin B in cryptorchid infants and in monorchid boys with compensatory testicular hypertrophy.
Fertil Steril
; 90(6): 2217-21, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18191850