Sabine Klawitter-Jung

Heidelberg, BW, Germany

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 29 publications

Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo.

Pathomechanism of Fever-Induced Liver Failure in NBAS Deficiency and Treatment Effect of NAC-Observations In Vitro and In Vivo.

Journal: Liver international : official journal of the International Association for the Study of the Liver

Published: March 17, 2026

Navigating Human Astrocyte Differentiation: Direct and Rapid One-Step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network Development.

Navigating Human Astrocyte Differentiation: Direct and Rapid One-Step Differentiation of Induced Pluripotent Stem Cells to Functional Astrocytes Supporting Neuronal Network Development.

Journal: Glia

Published: October 31, 2025

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.

Aminoadipate-semialdehyde synthase, a potential target for substrate reduction therapy in glutaric aciduria type 1.

Journal: Scientific reports

Published: October 31, 2025

iPSC line DHMCi019-A is generated from a patient with hereditary nephrotic syndrome harboring compound heterozygous NPHS2 variants.

iPSC line DHMCi019-A is generated from a patient with hereditary nephrotic syndrome harboring compound heterozygous NPHS2 variants.

Journal: Stem cell research

Published: May 27, 2025

iPSC line DHMCi010-A is derived from a hereditary nephrotic syndrome patient with an autosomal recessive NPHS2 mutation.

iPSC line DHMCi010-A is derived from a hereditary nephrotic syndrome patient with an autosomal recessive NPHS2 mutation.

Journal: Stem cell research

Published: May 27, 2025

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: September 04, 2024

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

Journal: Journal of inherited metabolic disease

Published: December 04, 2023

Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.

Tyrosine hydroxylase variants influence protein expression, cellular localization, stability, enzymatic activity and the physical interaction between tyrosine hydroxylase and GTP cyclohydrolase 1.

Journal: Journal of inherited metabolic disease

Published: June 14, 2023

An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids.

An AI-based segmentation and analysis pipeline for high-field MR monitoring of cerebral organoids.

Journal: Scientific reports

Published: May 10, 2023

A large and diverse brain organoid dataset of 1,400 cross-laboratory images of 64 trackable brain organoids.

A large and diverse brain organoid dataset of 1,400 cross-laboratory images of 64 trackable brain organoids.

Journal: Scientific data

Published: May 05, 2023

Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy.

Generation of an induced pluripotent stem cell line (DHMCi009-A) from an individual with TUBB2A tubulinopathy.

Journal: Stem cell research

Published: May 11, 2022

Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy.

Generation of an induced pluripotent stem cell line (DHMCi008-A) from an individual with TUBA1A tubulinopathy.

Journal: Stem cell research

Published: May 09, 2022

Showing 1-12 of 29

Last Updated: 09/26/2026