Anne Spraul Selected Research

Pulmonary Alveolar Proteinosis

11/2021

Deep phenotyping of MARS1 (interstitial lung and liver disease) and LARS1 (infantile liver failure syndrome 1) recessive multisystemic disease using Human Phenotype Ontology annotation: Overlap and differences. Case report and review of literature.

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Anne Spraul Research Topics

Disease

2	Tyrosinemias (Tyrosinemia) 12/2022 - 09/2012
1	Hepatocellular Carcinoma (Hepatoma) 12/2022
1	Pulmonary Alveolar Proteinosis 11/2021
1	Liver Failure 11/2021
1	progressive familial intrahepatic 1 Cholestasis 01/2021
1	Intrahepatic Cholestasis 01/2021
1	End Stage Liver Disease 01/2020
1	Cholestasis 01/2020
1	Adult Form Polyglucosan Body Disease 02/2013

Drug/Important Bio-Agent (IBA)

2	Tyrosine (L-Tyrosine)FDA Link 12/2022 - 09/2012
1	Phenylalanine (L-Phenylalanine)FDA Link 12/2022
1	fumarylacetoacetase (fumarylacetoacetate hydrolase)IBA 12/2022
1	Leucine-tRNA LigaseIBA 11/2021
1	Methionine-tRNA LigaseIBA 11/2021
1	Bile Acids and Salts (Bile Acids)IBA 01/2021
1	Adenosine Triphosphatases (ATPase)IBA 01/2021
1	Phospholipids (Phosphatides)FDA LinkGeneric 01/2021
1	Proteins (Proteins, Gene)FDA Link 01/2021
1	Member 11 Subfamily B ATP Binding Cassette TransporterIBA 01/2020
1	GlycogenIBA 02/2013

Therapy/Procedure

1	Liver Transplantation 12/2022