Heiko Brennenstuhl

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1

Dominic Lenz, Desirée E.C. Smith, Ellen Crushell et al. · Genetics in Medicine · 2020 · 48 citations · Full text

Hepatology, Genetic Disorder, Genetics +11

Rescue of respiratory failure in pulmonary alveolar proteinosis due to pathogenic <i>MARS1</i> variants

Dominic Lenz, Mirjam Stahl, Elias Seidl et al. · Pediatric Pulmonology · 2020 · 37 citations · Full text

Refining Genotypes and Phenotypes in KCNA2-Related Neurological Disorders

Jan Henje Döring, Julian Schröter, Jerome Jüngling et al. · International Journal of Molecular Sciences · 2021 · 34 citations · Full text

High throughput newborn screening for aromatic ʟ‐amino‐acid decarboxylase deficiency by analysis of concentrations of 3‐<i>O</i>‐methyldopa from dried blood spots

Heiko Brennenstuhl, Dirk Kohlmüller, Gwendolyn Gramer et al. · Journal of Inherited Metabolic Disease · 2019 · 32 citations · Full text

High Throughput, Neurochemical Biomarkers, Blood Spots +24

Phenotypic diversity, disease progression, and pathogenicity of <scp><i>MVK</i></scp> missense variants in mevalonic aciduria

Heiko Brennenstuhl, Mohammed Nashawi, Julian Schröter et al. · Journal of Inherited Metabolic Disease · 2021 · 28 citations · Full text