Sabine W. Gronborg

Copenhagen, Denmark

Last Updated: 09/26/2026

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Found 41 publications

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.

Journal: Neurology

Published: June 27, 2025

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation.

Suspected Central Adrenal Insufficiency in a Patient with Phosphomannomutase 2-Congenital Disorder of Glycosylation.

Journal: JCEM case reports

Published: May 25, 2025

Diagnostic yield of whole exome sequencing in a cohort of 825 patients.

Diagnostic yield of whole exome sequencing in a cohort of 825 patients.

Journal: European journal of medical genetics

Published: April 30, 2025

Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.

Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: March 31, 2025

A diagnostic algorithm for inherited metabolic disorders using untargeted metabolomics.

A diagnostic algorithm for inherited metabolic disorders using untargeted metabolomics.

Journal: Metabolomics : Official journal of the Metabolomic Society

Published: March 21, 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

A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits.

A Novel Mutation in CNTNAP1 Gene Causes Disorganization of Axonal Domains, Hypomyelination and Severe Neurological Deficits.

Journal: Journal of neuroscience research

Published: November 26, 2024

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency.

Identification of a new COQ4 spliceogenic variant causing severe primary coenzyme Q deficiency.

Journal: Molecular genetics and metabolism reports

Published: August 05, 2024

Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences.

Psychological Impact of Presymptomatic X-Linked ALD Diagnosis and Surveillance: A Small Qualitative Study of Patient and Parent Experiences.

Journal: International journal of neonatal screening

Published: July 11, 2024

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: January 26, 2024

Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.

Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries.

Journal: Orphanet journal of rare diseases

Published: November 14, 2023

Showing 1-12 of 41

Last Updated: 09/26/2026