Sabine Schroder

Robert Koch Str. 10
Koeln, NW 50931, Germany

Last Updated: 09/26/2026

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Found 25 publications

Glucosylsphingosine (Lyso-Gb1) Dynamics in Untreated States in Gaucher Disease.

Glucosylsphingosine (Lyso-Gb1) Dynamics in Untreated States in Gaucher Disease.

Journal: International journal of molecular sciences

Published: March 25, 2026

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

A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease.

A Retrospective Cohort Study of the GLA c.937G > T, p.Asp313Tyr Variant With No Evidence of an Association With Fabry Disease.

Journal: Neurology. Genetics

Published: December 13, 2024

Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.

Hereditary Transthyretin-Related Amyloidosis Ongoing Observational Study: A Baseline Report of the First 3167 Participants.

Journal: Journal of clinical medicine

Published: September 11, 2024

Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy.

Dihydropyrimidinase enzyme deficiency and congenital isolated adrenocorticotrophin deficiency: dual genetic diagnosis in a Sri Lankan boy.

Journal: Laboratory medicine

Published: August 10, 2024

Homozygous LPL and GPIHBP1 variants causing familial chylomicronaemia syndrome in Sri Lankan children.

Homozygous LPL and GPIHBP1 variants causing familial chylomicronaemia syndrome in Sri Lankan children.

Journal: Pathology

Published: November 04, 2023

Parent-Child Inpatient Treatment in Child and Adolescent Mental Healthcare: Predictors of Child Outcomes.

Parent-Child Inpatient Treatment in Child and Adolescent Mental Healthcare: Predictors of Child Outcomes.

Journal: Child psychiatry and human development

Published: August 15, 2023

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Journal: Advances in laboratory medicine

Published: August 10, 2023

Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency.

Clinical, biochemical, and molecular profiles of three Sri Lankan neonates with pyruvate carboxylase deficiency.

Journal: Advances in laboratory medicine

Published: August 10, 2023

Autosomal Recessive Renal Hypouricemia Type 2 Presenting with Childhood Stroke in a Sri Lankan Child.

Autosomal Recessive Renal Hypouricemia Type 2 Presenting with Childhood Stroke in a Sri Lankan Child.

Journal: Laboratory medicine

Published: March 01, 2023

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.

Journal: European journal of human genetics : EJHG

Published: November 29, 2022

Showing 1-12 of 25

Last Updated: 09/26/2026