Detalhe da pesquisa
1.
Comparison of Tandem Mass Spectrometry and the Fluorometric Method-Parallel Phenylalanine Measurement on a Large Fresh Sample Series and Implications for Newborn Screening for Phenylketonuria.
Int J Mol Sci
; 24(3)2023 Jan 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-36768810
2.
Universal screening for familial hypercholesterolemia in 2 populations.
Genet Med
; 24(10): 2103-2111, 2022 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-35913489
3.
How health care professionals confront and solve ethical dilemmas - a tale of two countries: Slovenia and Croatia.
Croat Med J
; 62(2): 120-129, 2021 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-33938651
4.
Sex-Related Differences in Cardiovascular Disease Risk Profile in Children and Adolescents with Type 1 Diabetes.
Int J Mol Sci
; 22(19)2021 Sep 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-34638531
5.
Central TSH Dysregulation in a Patient with Familial Non-Autoimmune Autosomal Dominant Hyperthyroidism Due to a Novel Thyroid-Stimulating Hormone Receptor Disease-Causing Variant.
Medicina (Kaunas)
; 57(3)2021 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-33669123
6.
High-Sensitivity C-Reactive Protein and Carotid Intima Media Thickness as Markers of Subclinical Inflammation and Atherosclerosis in Pediatric Patients with Hypercholesterolemia.
Molecules
; 25(21)2020 Nov 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33158028
7.
Hypercholesterolemia in Two Siblings with Resistance to Thyroid Hormones Due to Disease-Causing Variant in Thyroid Hormone Receptor (THRB) Gene.
Medicina (Kaunas)
; 56(12)2020 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-33333891
8.
ESCAP statement on the care for children and adolescents with gender dysphoria: an urgent need for safeguarding clinical, scientific, and ethical standards.
Eur Child Adolesc Psychiatry
; 2024 Apr 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38678135
9.
Notes on the Development of the Slovenian Ethical Recommendations for Decision-Making on Treatment and Palliative Care of Patients at the End of Life in Intensive Care Medicine.
Pediatr Crit Care Med
; 19(8S Suppl 2): S48-S52, 2018 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-30080807
10.
Screening in children for familial hypercholesterolaemia: start now.
Eur Heart J
; 43(34): 3209-3212, 2022 09 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35511818
11.
Attitudes of Slovene paediatricians to end-of-life care.
J Paediatr Child Health
; 52(3): 278-83, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26515146
12.
Clinical Role of CYP2C19 Polymorphisms in Patients with Congenital Adrenal Hyperplasia Due to 21-hydroxylase Deficiency.
Acta Chim Slov
; 63(1): 33-7, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26970786
13.
Fifty years of phenylketonuria newborn screening - A great success for many, but what about the rest?
Mol Genet Metab
; 113(1-2): 8-10, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25174964
14.
Newborn screening in southeastern Europe.
Mol Genet Metab
; 113(1-2): 42-5, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-25174966
15.
Experiences of Slovene ICU physicians with end-of-life decision making: a nation-wide survey.
Med Sci Monit
; 20: 2007-12, 2014 Oct 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-25335864
16.
Osilodrostat for Cushing Disease and Its Role in Pediatrics.
Horm Res Paediatr
; 96(6): 573-580, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-35045421
17.
Non-alcoholic fatty liver disease in a pediatric patient with heterozygous familial hypobetalipoproteinemia due to a novel APOB variant: a case report and systematic literature review.
Front Med (Lausanne)
; 10: 1106441, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37384046
18.
Mapping of familial hypercholesterolemia and dyslipidemias basic management infrastructure in Pakistan: a cross-sectional study.
Lancet Reg Health Southeast Asia
; 12: 100163, 2023 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-37384054
19.
Genetic and clinical characteristics including occurrence of testicular adrenal rest tumors in Slovak and Slovenian patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency.
Front Endocrinol (Lausanne)
; 14: 1134133, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37008950
20.
Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review.
Mol Genet Metab Rep
; 36: 100986, 2023 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-37670898