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

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第一作者： Ursa,Sustar

第一单位： Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.

作者： Ursa,Sustar ^[1] ; Urh,Groselj ^[2] ; Katarina,Trebusak Podkrajsek ^[1] ; Matej,Mlinaric ^[2] ; Jernej,Kovac ^[3] ; Martin,Thaler ^[4] ; Ana,Drole Torkar ^[5] ; Ajda,Skarlovnik ^[1] ; Tadej,Battelino ^[4] ; Tinka,Hovnik ^[6]

作者单位： Department of Endocrinology, Diabetes and Metabolic Diseases, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. ^[1] Faculty of Medicine, University of Ljubljana, Ljubljana, Slovenia. ^[2] Department of Medicine, Division of Cardiovascular Medicine, Stanford University, Stanford, CA, United States. ^[3] Clinical Institute of Special Laboratory Diagnostics, University Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia. ^[4] Faculty of Medicine, Institute of Biochemistry and Molecular Genetics, University of Ljubljana, Ljubljana, Slovenia. ^[5] Department of Radiology, University Children's Hospital Ljubljana, Ljubljana, Slovenia. ^[6] Department of Vascular Diseases, University Medical Centre Ljubljana, Ljubljana, Slovenia. ^[7]

关键词 CESD LAL-D LIPA gene cholesterol ester storage disease hypercholesterolemia lysosomal acid lipase deficiency pediatric population universal screening

DOI 10.3389/fgene.2022.936121

PMID 35903350

发布时间 2022-07-31

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Frontiers in genetics

2022年13卷

936121页

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

Frontiers in genetics

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Frontiers in genetics

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

Frontiers in genetics

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Frontiers in genetics

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