Friederike Burger

Heidelberg, BW, Germany

Last Updated: 09/26/2026

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Found 17 publications

Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.

Clinical practice recommendations for the diagnosis and management of nephropathic cystinosis.

Journal: Nature reviews. Nephrology

Published: May 14, 2026

Evaluation of extraction methods for the determination of urinary sulfatides by LC-MS/MS.

Evaluation of extraction methods for the determination of urinary sulfatides by LC-MS/MS.

Journal: Journal of chromatography. B, Analytical technologies in the biomedical and life sciences

Published: February 26, 2026

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

Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis.

Quantification of Specific Urinary Oligosaccharide Biomarkers for Diagnosis and Treatment Monitoring of Alpha-Mannosidosis.

Journal: Journal of inherited metabolic disease

Published: February 04, 2026

Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy.

Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy.

Journal: The New England journal of medicine

Published: September 18, 2024

Elevated Soluble ACE2 Activity in Children and Adults After SARS-CoV-2 Exposure Irrespective of Laboratory-Confirmed Infection.

Elevated Soluble ACE2 Activity in Children and Adults After SARS-CoV-2 Exposure Irrespective of Laboratory-Confirmed Infection.

Journal: Journal of medical virology

Published: July 22, 2024

Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.

Complex metabolic disharmony in PMM2-CDG paves the way to new therapeutic approaches.

Journal: Molecular genetics and metabolism

Published: March 17, 2023

Production of an Anise- and Woodruff-like Aroma by Monokaryotic Strains of Pleurotus sapidus Grown on Citrus Side Streams.

Production of an Anise- and Woodruff-like Aroma by Monokaryotic Strains of Pleurotus sapidus Grown on Citrus Side Streams.

Journal: Molecules (Basel, Switzerland)

Published: December 30, 2021

Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.

Long-term disease course of two patients with multiple sulfatase deficiency differs from metachromatic leukodystrophy in a broad cohort.

Journal: JIMD reports

Published: July 23, 2020

Comparison of early pregnancy serum concentration of neopterin, neopterin/creatinine ratio, C-reactive protein, and chitotriosidase, in pregnant women with birth at term and spontaneous preterm birth.

Comparison of early pregnancy serum concentration of neopterin, neopterin/creatinine ratio, C-reactive protein, and chitotriosidase, in pregnant women with birth at term and spontaneous preterm birth.

Journal: Experimental and therapeutic medicine

Published: April 13, 2020

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.

Human heterologous liver cells transiently improve hyperammonemia and ureagenesis in individuals with severe urea cycle disorders.

Journal: Journal of inherited metabolic disease

Published: June 19, 2017

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

Multigene panel next generation sequencing in a patient with cherry red macular spot: Identification of two novel mutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings.

Journal: Molecular genetics and metabolism reports

Published: August 22, 2016

Showing 1-12 of 17

Last Updated: 09/26/2026