Clinical and genetic characteristics of two patients with tyrosinemia type 1 in Slovenia – A novel fumarylacetoacetate hydrolase (FAH) intronic disease-causing variant
Jaka Šikonja(University of Ljubljana), Urh Grošelj(Flinders University), Barbara Faganel Kotnik(Ljubljana University Medical Centre), Barbka Repič Lampret(Ljubljana University Medical Centre), Simona Klemenčič(Ljubljana University Medical Centre), Tadej Battelino(University of Ljubljana), Markéta Tesařová(Charles University), Jernej Brecelj(University of Ljubljana), Maruša Debeljak(University of Ljubljana), Neža Lipovec(Ljubljana University Medical Centre), Ana Drole Torkar(University of Ljubljana), Sara Bertok(Ljubljana University Medical Centre), Mojca Žerjav Tanšek(University of Ljubljana), Valentina Stefanova Kralj(Ljubljana University Medical Centre), Jernej Kovač(University of Ljubljana), Žiga Iztok Remec(Ljubljana University Medical Centre)
Cited by 5
Related Papers
Clinical Targets for Continuous Glucose Monitoring Data Interpretation: Recommendations From the International Consensus on Time in Range
|Diabetes Care|2019|3.8k
International Consensus on Use of Continuous Glucose Monitoring
|Diabetes Care|2017|2k
Obesity Due to Proopiomelanocortin Deficiency: Three New Cases and Treatment Trials with Thyroid Hormone and ACTH4–10
|The Journal of Clinical Endocrinology & Metabolism|2003|308
A Glycemia Risk Index (GRI) of Hypoglycemia and Hyperglycemia for Continuous Glucose Monitoring Validated by Clinician Ratings
|Journal of Diabetes Science and Technology|2022|288
Reducing the Clinical and Public Health Burden of Familial Hypercholesterolemia
|JAMA Cardiology|2020|259