Lea D. Schlieben

Klinikum rechts der Isar — Germany

Biochemistry, Genetics and Molecular Biology · Life Sciences

9h-index317citations29works4.22yr avg
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Research Topics

Metabolism and Genetic Disorders(11), Genomics and Rare Diseases(8), Mitochondrial Function and Pathology(6), Lipoproteins and Cardiovascular Health(4), Biochemical and Molecular Research(4)

Publications29 total

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency
Universität Zürich, ZORA·2025Open Access
The genotypic and phenotypic landscape of <i>PDHA1</i> -related pyruvate dehydrogenase complex deficiency
Brain·2025Open Access
Paediatric acute liver failure: A prospective, nationwide, population‐based surveillance study in Germany
Journal of Pediatric Gastroenterology and Nutrition·2025· 1 citedOpen Access
Clinical scores fail to sufficiently identify children with familial hypercholesterolaemia
European Journal of Preventive Cardiology·2025· 5 citedOpen Access
Hepatic Phenotype in NBAS‐Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients
Liver International·2025· 3 citedOpen Access
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Universität Zürich, ZORA·2025Open Access
Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency ( <scp>DLDD</scp> ): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients
Journal of Inherited Metabolic Disease·2025· 3 citedOpen Access
Reply: The race against time in genetic testing for PALF
Hepatology·2025
Ticagrelor vs Prasugrel for Acute Coronary Syndrome in Routine Care
JAMA Network Open·2024· 9 citedOpen Access
Missense variants in the TRPM7 α-kinase domain are associated with recurrent pediatric acute liver failure
Hepatology Communications·2024· 1 citedOpen Access
Dystonia and mitochondrial disease: the movement disorder connection revisited in 900 genetically diagnosed patients
Journal of Neurology·2024· 6 citedOpen Access
Digenic Leigh syndrome on the background of the m.11778G&amp;gt;A Leber hereditary optic neuropathy variant
Brain·2024· 8 citedOpen Access
Machine Learning–Supported Diagnosis of Small Blue Round Cell Sarcomas Using Targeted RNA Sequencing
Journal of Molecular Diagnostics·2024· 5 citedOpen Access
Distinct neonatal hyperammonemia and liver synthesis dysfunction: case report of a severe MEGDHEL syndrome
Frontiers in Pediatrics·2024· 2 citedOpen Access
Disorders of vesicular trafficking presenting with recurrent acute liver failure: <scp>NBAS</scp>, <scp>RINT1</scp>, and <scp>SCYL1</scp> deficiency
Journal of Inherited Metabolic Disease·2024· 16 citedOpen Access
Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease
Molecular Genetics and Metabolism·2024· 5 citedOpen Access
Deoxyguanosine kinase deficiency: natural history and liver transplant outcome
Brain Communications·2024· 8 citedOpen Access
Tagungsbericht SSIEM Jahrestagung vom 29.08.2023 bis 01.09.2023 in Jerusalem
Medizinische Genetik·2023Open Access
Genetic landscape of pediatric acute liver failure of indeterminate origin
Hepatology·2023· 26 citedOpen Access
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
Genetics in Medicine·2023· 4 citedOpen Access
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Frequent Co-authors

Holger Prokisch(21), Dominic Lenz(13), Christian Staufner(11), René G. Feichtinger(7), Johannes A. Mayr(6), Georg F. Hoffmann(6), Veronika Sanin(5), Raphael Schmieder(5), Sara Ates(5), Thomas Meitinger(5), Moritz von Scheidt(5), Wolfgang Köenig(5), Heribert Schunkert(5), Ivo Barić(5), Vassiliki Konstantopoulou(5), Elke Lainka(5), Bianca Peters(5), Matias Wagner(5), Kei Murayama(5), Nicole Hammann(5)