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117 results on '"Groselj U."'

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1. Hyperinsulinism-hyperammonemia syndrome in an infant with seizures

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

13. Undiagnosed Phenylketonuria Can Exist Everywhere: Results From an International Survey

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

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

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

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

24. Case report: The success of empagliflozin therapy for glycogen storage disease type 1b.

25. Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.

27. Editorial: Rare dyslipidemias.

28. 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.

29. Newborn Screening in a Pandemic-Lessons Learned.

31. 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.

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

33. 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.

34. Osilodrostat for Cushing Disease and Its Role in Pediatrics.

35. Paediatric familial hypercholesterolaemia screening in Europe: public policy background and recommendations.

36. Compound Heterozygote Mutation in the SMPD1 Gene Leading to Nieman-Pick Disease Type A.

37. Universal screening for familial hypercholesterolemia in 2 populations.

38. Screening in children for familial hypercholesterolaemia: start now.

40. A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review.

41. Early Discovery of Children With Lysosomal Acid Lipase Deficiency With the Universal Familial Hypercholesterolemia Screening Program.

42. Towards Achieving Equity and Innovation in Newborn Screening across Europe.

43. An Adolescent Boy with Klinefelter Syndrome and 47,XXY/46,XX Mosaicism: Case Report and Review of Literature.

44. Long-Term Follow-Up of Three Family Members with a Novel NNT Pathogenic Variant Causing Primary Adrenal Insufficiency.

45. Optimizing the Phenylalanine Cut-Off Value in a Newborn Screening Program.

46. Global impact of COVID-19 on newborn screening programmes.

47. Data on phenylalanine-to-tyrosine ratios in assessment of tetrahydrobiopterin (BH 4 )-responsiveness in patients with hyperphenylalaninemia.

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

49. Towards a Comprehensive Strategy for the Management of Rare Diseases in Slovenia: Outlining an IT-Enabled Ecosystemic Approach.

50. Reye Syndrome with Severe Hyperammonemia and a Good Neurological Outcome.

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