Peter Freisinger

Reutlingen, BW, Germany

Last Updated: 09/26/2026

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Found 86 publications

Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry-a multinational, longitudinal cohort study.

Mitochondrial diabetes mellitus: real world insights from the GENOMIT registry-a multinational, longitudinal cohort study.

Journal: EBioMedicine
Published: February 26, 2026

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Newborn Screening for Urea Cycle Disorders and Clinical Outcomes.

Journal: Pediatrics
Published: August 31, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology
Published: July 01, 2025

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

The genotypic and phenotypic landscape of PDHA1-related pyruvate dehydrogenase complex deficiency.

Journal: Brain : a journal of neurology
Published: July 01, 2025

Long-Term Outcomes of Adolescents and Young Adults Identified by Metabolic Newborn Screening.

Long-Term Outcomes of Adolescents and Young Adults Identified by Metabolic Newborn Screening.

Journal: Pediatrics
Published: July 12, 2024

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

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.

Parental and child's psychosocial and financial burden living with an inherited metabolic disease identified by newborn screening.

Journal: Journal of inherited metabolic disease
Published: April 25, 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

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.

Neurological outcome in long-chain hydroxy fatty acid oxidation disorders.

Journal: Annals of clinical and translational neurology
Published: December 14, 2023

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias.

Journal: Journal of inherited metabolic disease
Published: September 16, 2023

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease.

Journal: Molecular genetics and metabolism
Published: July 13, 2023

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.

Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples.

Journal: Journal of inherited metabolic disease
Published: May 06, 2023
Showing 1-12 of 86

Last Updated: 09/26/2026