Kathrin Jeltsch

Heidelberg, BW, Germany

Last Updated: 09/26/2026

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Found 31 publications

Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria.

Real-Life Application of a Point-of-Care Biosensor for Phenylalanine in Patients With Phenylketonuria.

Journal: Journal of inherited metabolic disease

Published: November 26, 2025

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.

Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.

Journal: Journal of inherited metabolic disease

Published: July 05, 2025

The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism.

The neuropsychological profile of SSADH deficiency, a neurotransmitter disorder of GABA metabolism.

Journal: Molecular genetics and metabolism

Published: October 18, 2024

Elevated Soluble ACE2 Activity in Children and Adults After SARS-CoV-2 Exposure Irrespective of Laboratory-Confirmed Infection.

Elevated Soluble ACE2 Activity in Children and Adults After SARS-CoV-2 Exposure Irrespective of Laboratory-Confirmed Infection.

Journal: Journal of medical virology

Published: July 22, 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

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

Consensus guidelines for the diagnosis and management of succinic semialdehyde dehydrogenase deficiency.

Journal: Molecular genetics and metabolism

Published: November 17, 2023

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.

Clinical and molecular outcomes from the 5-Year natural history study of SSADH Deficiency, a model metabolic neurodevelopmental disorder.

Journal: Journal of neurodevelopmental disorders

Published: September 14, 2023

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.

Phenotypic Correlates of Structural and Functional Protein Impairments Resultant from ALDH5A1 Variants.

Journal: Research square

Published: July 28, 2023

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Corrigendum to: Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Journal: Molecular genetics and metabolism

Published: July 15, 2023

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.

Phenotypic correlates of structural and functional protein impairments resultant from ALDH5A1 variants.

Journal: Human genetics

Published: June 26, 2023

Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.

Levodopa-refractory hyperprolactinemia and pituitary findings in inherited disorders of biogenic amine metabolism.

Journal: Journal of inherited metabolic disease

Published: May 24, 2023

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Prevalence of DDC genotypes in patients with aromatic L-amino acid decarboxylase (AADC) deficiency and in silico prediction of structural protein changes.

Journal: Molecular genetics and metabolism

Published: March 14, 2023

Showing 1-12 of 31

Last Updated: 09/26/2026