Esther M. Maier

Dr. Von Haunersches Kinderspital
Munich, BY 80337, Germany

Last Updated: 09/26/2026

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Found 59 publications

Restricted activity of various acyl-CoA dehydrogenases

Restricted activity of various acyl-CoA dehydrogenases

Journal: MMW Fortschritte der Medizin

Published: February 16, 2026

A 25-Year Retrospective on Bavaria's Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up.

A 25-Year Retrospective on Bavaria's Newborn Screening Programme: Achievements, Challenges and Long-Term Follow-Up.

Journal: International journal of neonatal screening

Published: September 15, 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

Correspondence on "Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)" by Smith et al.

Correspondence on "Phenylalanine hydroxylase deficiency diagnosis and management: A 2023 evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG)" by Smith et al.

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

Published: June 16, 2025

Enzyme Replacement Therapy in CLN2-Associated Retinopathy.

Enzyme Replacement Therapy in CLN2-Associated Retinopathy.

Journal: Klinische Monatsblatter fur Augenheilkunde

Published: March 24, 2025

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.

Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.

Journal: Molecular genetics and metabolism

Published: March 17, 2025

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Efficacy results from a 12-month double-blind randomized trial of arimoclomol for treatment of Niemann-Pick disease type C (NPC): Presenting a rescored 4-domain NPC Clinical Severity Scale.

Journal: Molecular genetics and metabolism reports

Published: February 10, 2025

Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2.

Intravitreal Enzyme Replacement Therapy Slows Retinopathy in Late Infantile Ceroid Lipofuscinosis Type 2.

Journal: Neuropediatrics

Published: January 08, 2025

Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.

Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.

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

Published: December 08, 2024

Characterization of Peripapillary Hyperreflective Ovoid Mass-like Structures in a Broad Spectrum of Neurologic Disorders.

Characterization of Peripapillary Hyperreflective Ovoid Mass-like Structures in a Broad Spectrum of Neurologic Disorders.

Journal: Ophthalmology

Published: October 19, 2024

A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening.

A Modular Genetic Approach to Newborn Screening from Spinal Muscular Atrophy to Sickle Cell Disease-Results from Six Years of Genetic Newborn Screening.

Journal: Genes

Published: October 07, 2024

Showing 1-12 of 59

Last Updated: 09/26/2026