Nastassja Himmelreich

Tuebingen, BW, Germany

Last Updated: 09/26/2026

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Found 39 publications

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness.

Integrating Functional Consequence Annotation With PAH Allelic Phenotype Values Refines Prediction of Tetrahydrobiopterin Responsiveness.

Journal: Journal of inherited metabolic disease

Published: February 02, 2026

Genotype-phenotype relationships in phenylalanine hydroxylase deficiency: Functional annotation-enhanced analysis of 23,427 individuals.

Genotype-phenotype relationships in phenylalanine hydroxylase deficiency: Functional annotation-enhanced analysis of 23,427 individuals.

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

Published: January 23, 2026

L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.

L-fucose supplementation in a patient with global hypofucosylation and a mono-allelic variant in SLC35C1: Clinical improvement and assessment of biomarkers.

Journal: Molecular genetics and metabolism

Published: November 28, 2025

Successful treatment of neonatal COQ2 deficiency with 4-hydroxybenzoic acid.

Successful treatment of neonatal COQ2 deficiency with 4-hydroxybenzoic acid.

Journal: Brain : a journal of neurology

Published: November 10, 2025

Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG.

Exploring Secondary Biotinidase Deficiency and Biotin Supplementation in PMM2-CDG.

Journal: Neuropediatrics

Published: October 06, 2025

Novel homozygous SYNE1 missense variant in late onset autosomal recessive cerebellar ataxia 1: a case report.

Novel homozygous SYNE1 missense variant in late onset autosomal recessive cerebellar ataxia 1: a case report.

Journal: Therapeutic advances in neurological disorders

Published: July 24, 2025

A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.

A Novel Missense Variant in Ultrarare SLC35A1-CDG Alters Cellular Glycosylation, Lipid, and Energy Metabolism Without Affecting CDG Serum Markers.

Journal: Human mutation

Published: October 24, 2024

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

Impact of genetic test interpretation on a VPS13B missense variant in Cohen syndrome.

Journal: Frontiers in neuroscience

Published: August 29, 2024

Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation.

Assessing carnosinase 1 activity for diagnosing congenital disorders of glycosylation.

Journal: Molecular genetics and metabolism

Published: August 19, 2024

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.

Significance of utilizing in silico structural analysis and phenotypic data to characterize phenylalanine hydroxylase variants: A PAH landscape.

Journal: Molecular genetics and metabolism

Published: April 27, 2024

Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients.

Does hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients.

Journal: Molecular genetics and metabolism

Published: January 31, 2024

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology.

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosology.

Journal: Molecular genetics and metabolism

Published: January 30, 2024

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Last Updated: 09/26/2026