Amelie S. Havla-Lotz

Dr. Von Hauner Children's Hospital
Munich, BY, Germany

Last Updated: 09/26/2026

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Found 39 publications

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.

Prevalence, Disease Onset and Clinical Outcome in Arginase 1 Deficiency: Cross-Border Surveillance in Germany, Austria, and Switzerland.

Journal: Journal of inherited metabolic disease
Published: March 11, 2026

Restricted activity of various acyl-CoA dehydrogenases

Restricted activity of various acyl-CoA dehydrogenases

Journal: MMW Fortschritte der Medizin
Published: February 16, 2026

Peroxisomal interactome mapping enables network-based modelling of function and disease.

Peroxisomal interactome mapping enables network-based modelling of function and disease.

Journal: Life science alliance
Published: November 06, 2025

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders: Results of a European and North American Survey.

Journal: Journal of inherited metabolic disease
Published: October 24, 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

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

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

Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.

Optical Coherence Tomography: Retinal Imaging Contributes to the Understanding of Brain Pathology in Classical Galactosemia.

Journal: Journal of clinical medicine
Published: January 24, 2023

Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.

Free carnitine concentrations and biochemical parameters in medium-chain acyl-CoA dehydrogenase deficiency: Genotype-phenotype correlation.

Journal: Clinical genetics
Published: December 16, 2022

Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria.

Serum glial fibrillary acidic protein and neurofilament light chain in patients with early treated phenylketonuria.

Journal: Frontiers in neurology
Published: August 04, 2022

Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.

Optical Coherence Tomography to Assess Neurodegeneration in Phenylalanine Hydroxylase Deficiency.

Journal: Frontiers in neurology
Published: September 21, 2021

iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.

iBRET Screen of the ABCD1 Peroxisomal Network and Mutation-Induced Network Perturbations.

Journal: Journal of proteome research
Published: August 12, 2021
Showing 1-12 of 39

Last Updated: 09/26/2026