Detalhe da pesquisa
1.
Early exposures and inherent factors in premature newborns are associated with type 1 diabetes.
Pediatr Res
; 94(4): 1516-1522, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35488031
2.
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
J Inherit Metab Dis
; 46(4): 744-755, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36695547
3.
Novel Susceptibility Genes Drive Familial Non-Medullary Thyroid Cancer in a Large Consanguineous Kindred.
Int J Mol Sci
; 24(9)2023 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-37175943
4.
Deep intronic variant in the ARSB gene as the genetic cause for Maroteaux-Lamy syndrome (MPS VI).
Am J Med Genet A
; 185(12): 3804-3809, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34435740
5.
Thyroid function tests in newborns of mothers with hypothyroidism.
Eur J Pediatr
; 180(2): 519-525, 2021 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-33404896
6.
Vitamin D deficiency in children with acute bronchiolitis: a prospective cross-sectional case- control study.
BMC Pediatr
; 21(1): 211, 2021 04 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33931018
7.
Visits at the primary clinic do not reduce ketoacidosis rates at presentation in type 1 diabetes mellitus.
Acta Paediatr
; 110(3): 995-1000, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32815212
8.
Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.
Clin Genet
; 98(3): 303-307, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32617964
9.
Birth during the moderate weather seasons is associated with early onset of type 1 diabetes in the Mediterranean area.
Diabetes Metab Res Rev
; 36(7): e3318, 2020 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-32270907
10.
A Phase II, Double-Blind, Randomized, Placebo-Controlled, Multicenter Study Evaluating the Efficacy and Safety of Alpha-1 Antitrypsin (AAT) (Glassia®) in the Treatment of Recent-Onset Type 1 Diabetes.
Int J Mol Sci
; 20(23)2019 Nov 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-31795482
11.
Prevalence of early and late prematurity is similar among pediatric type 1 diabetes patients and the general population.
Diabetes Metab Res Rev
; 34(5): e2996, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29471580
12.
Correction to: Early exposures and inherent factors in premature newborns are associated with type 1 diabetes.
Pediatr Res
; 94(4): 1583, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-35764816
13.
Essential role of carbonic anhydrase XII in secretory gland fluid and HCO3 (-) secretion revealed by disease causing human mutation.
J Physiol
; 593(24): 5299-312, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26486891
14.
Phosphoglucomutase-1 deficiency: Intrafamilial clinical variability and common secondary adrenal insufficiency.
Am J Med Genet A
; 167A(12): 3139-43, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26768186
15.
Diagnosis, Management, and Possible Prevention of Hungry Bone Syndrome in an Adolescent with Primary Hyperparathyroidism and Vitamin D Deficiency.
Isr Med Assoc J
; 22(2): 122-124, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32043332
16.
Diagnostic Yield of Critical Sample and Elective Fast-Test in Children After a Hypoglycemic Event: Experience From a Single Center in Israel.
Indian Pediatr
; 61(4): 348-351, 2024 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38449278
17.
Ethnic differences in glycemic control and diabetic ketoacidosis rate among children with diabetes mellitus type 1 in the Negev area.
Isr Med Assoc J
; 15(6): 267-70, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23882887
18.
GHRH-GH-IGF1 axis in pediatric Down syndrome: A systematic review and mini meta-analysis.
Front Pediatr
; 11: 1132296, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-36911030
19.
GH treatment in pediatric Down syndrome: a systematic review and mini meta-analysis.
Front Endocrinol (Lausanne)
; 14: 1135768, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37152958
20.
Hypoparathyroidism-retardation-dysmorphism syndrome-Clinical insights from a large longitudinal cohort in a single medical center.
Front Pediatr
; 10: 916679, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35935360