Lucia Laugwitz

Tuebingen, BW, Germany

Last Updated: 09/26/2026

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Found 40 publications

European expert recommendations for comprehensive pre-treatment, treatment-phase and post-treatment care of patients with metachromatic leukodystrophy treated with autologous haematopoietic stem and progenitor cell gene therapy.

European expert recommendations for comprehensive pre-treatment, treatment-phase and post-treatment care of patients with metachromatic leukodystrophy treated with autologous haematopoietic stem and progenitor cell gene therapy.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: March 25, 2026

aiDIVA - hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models.

aiDIVA - hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models.

Journal: NPJ genomic medicine
Published: March 12, 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

Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review.

Newborn Screening for Metachromatic Leukodystrophy: A Systematic Literature Review.

Journal: International journal of neonatal screening
Published: July 23, 2025

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.

Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.

Journal: Neurology
Published: June 27, 2025

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Journal: Nature communications
Published: March 31, 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

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.

ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy.

Journal: Journal of inherited metabolic disease
Published: January 20, 2025

Brain morphometry and psychomotor development in children with PCH2A.

Brain morphometry and psychomotor development in children with PCH2A.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: December 08, 2024

Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.

Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.

Journal: Brain : a journal of neurology
Published: November 12, 2024

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

Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS.

Profiling and semi-quantitation of urine sulfatides by UHPLC-Orbitrap-HRMS.

Journal: Analytica chimica acta
Published: September 12, 2024
Showing 1-12 of 40

Last Updated: 09/26/2026