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Barbka Repic Lampret Selected Research

C 205

2/2018Next generation sequencing as a follow-up test in an expanded newborn screening programme.

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Barbka Repic Lampret Research Topics

Disease

2VLCAD deficiency
01/2021 - 02/2018
1Acute Liver Failure (Fulminant Hepatic Failure)
03/2022
1Tyrosinemias (Tyrosinemia)
03/2022
13-Methylglutaconic Aciduria
12/2020
1Metabolic Diseases (Metabolic Disease)
08/2019
1Medium chain acyl CoA dehydrogenase deficiency
04/2018

Drug/Important Bio-Agent (IBA)

2AcidsIBA
01/2021 - 04/2018
1fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA
03/2022
1Tyrosine (L-Tyrosine)FDA Link
03/2022
1EnzymesIBA
01/2021
1Fatty Acids (Saturated Fatty Acids)IBA
01/2021
1methylglutaconyl-CoA hydrataseIBA
12/2020
1Amino AcidsFDA Link
08/2019
1Acyl-CoA Dehydrogenase (Medium-Chain Acyl-Coenzyme A Dehydrogenase)IBA
04/2018
1C 205IBA
02/2018

Therapy/Procedure

1Liver Transplantation
03/2022