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92 results on '"Grošelj Urh"'

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1. Expanded newborn screening program in Slovenia using tandem mass spectrometry and confirmatory next generation sequencing genetic testing

2. Newborn Screening in Slovenia / Presejanje Novorojencev V Sloveniji

6. Association of BMI, lipid-lowering medication, and age with prevalence of type 2 diabetes in adults with heterozygous familial hypercholesterolaemia: a worldwide cross-sectional study

7. Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study

8. Mapping of familial hypercholesterolemia and dyslipidemias basic management infrastructure in Pakistan: a cross-sectional study

9. Evaluation of lipoprotein(a) in the prevention and management of atherosclerotic cardiovascular disease: A survey among the Lipid Clinics Network

10. Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study

11. Global perspective of familial hypercholesterolaemia: a cross-sectional study from the EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

16. Overview of the current status of familial hypercholesterolaemia care in over 60 countries - The EAS Familial Hypercholesterolaemia Studies Collaboration (FHSC)

21. HOFH is a life limiting condition: The life journey of deceased HOFH patients in the HICC registry

25. Clinical and genetic characteristics of a patient with phosphoribosyl pyrophosphate synthetase 1 deficiency and a systematic literature review

28. Newborn screening in southeastern Europe

29. The time is now: Achieving FH paediatric screening across Europe - The Prague Declaration

31. Therapy-type related long-term outcomes in mucopolysaccaridosis type II (Hunter syndrome)

34. Towards a comprehensive strategy for the management of rare diseases in Slovenia

38. How health care professionals confront and solve ethical dilemmas – a tale of two countries: Slovenia and Croatia

39. How health care professionals confront and solve ethical dilemmas – a tale of two countries: Slovenia and Croatia

43. Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia:A Global Call to Action

45. Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant

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