Dorothea Haas

Heidelberg, BW, Germany

Last Updated: 09/26/2026

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Found 61 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

MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation Disorders.

MR Neurography in Children and Adolescents: Multiparametric Assessment of Peripheral Nerve Involvement in Long-chain Fatty Acid Oxidation Disorders.

Journal: Investigative radiology

Published: November 18, 2025

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Diagnostic delay in inherited metabolic diseases: Insights from the U-IMD registry.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 31, 2025

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Journal: Pediatrics

Published: August 31, 2025

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.

Propionic Acidemia: Gray Matter Disease Meets Subcortical Leukodystrophy.

Journal: Journal of inherited metabolic disease

Published: July 17, 2025

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency.

Pitfalls in the diagnosis of carnitine palmitoyltransferase 1 deficiency.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: July 10, 2025

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.

Palliative Care for Children and Adults With Inherited Metabolic Disease in Europe: An Underutilised Service for Supportive Treatment and Care.

Journal: Journal of inherited metabolic disease

Published: June 19, 2025

Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges.

Kidney involvement in glycogen storage disease type I: Current knowledge and key challenges.

Journal: Molecular genetics and metabolism

Published: January 15, 2025

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.

Diagnosis, treatment, management and monitoring of patients with tyrosinaemia type 1: Consensus group recommendations from the German-speaking countries.

Journal: Journal of inherited metabolic disease

Published: June 06, 2024

Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.

Dihydropyrimidinase deficiency with atrioventricular septal defect: a case report.

Journal: Journal of pediatric endocrinology & metabolism : JPEM

Published: April 02, 2024

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.

Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b.

Journal: Molecular genetics and metabolism

Published: February 13, 2024

Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients.

Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients.

Journal: Molecular genetics and metabolism

Published: January 31, 2024

Showing 1-12 of 61

Last Updated: 09/26/2026