Eva M. Thimm

Duesseldorf, NW, Germany

Last Updated: 09/26/2026

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Found 35 publications

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis.

An example for potentially underrated causes of recessive disease in the Greater Middle East: integrative long-read genome and transcriptome sequencing pinpoint a deep-intronic homozygous HEXB candidate founder variant in GM2-gangliosidosis.

Journal: Human genomics
Published: February 08, 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

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

Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.

Practical Considerations for the Diagnosis and Management of Isovaleryl-CoA-Dehydrogenase Deficiency (Isovaleric Acidemia): Systematic Search and Review and Expert Opinions.

Journal: International journal of neonatal screening
Published: April 05, 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

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

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

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

Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.

Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.

Journal: Pediatrics
Published: September 19, 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

Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.

Classical homocystinuria presenting with transient basal ganglia pathology and dystonia.

Journal: Journal of inherited metabolic disease
Published: July 14, 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
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Last Updated: 09/26/2026