Cargando…

Evaluating meaningful changes in physical functioning and cognitive declines in metachromatic leukodystrophy: a caregiver interview study

BACKGROUND: Metachromatic leukodystrophy (MLD) is a rare lysosomal storage disease caused by deficient activity of arylsulfatase A (ASA). Treatment options for patients are limited; gene therapy based on haematopoietic stem cell transplantation is the only approved treatment for some subtypes of MLD...

Descripción completa

Detalles Bibliográficos
Autores principales:	Martin, Susan, Harris, Nimanee, Romanus, Dorothy
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2023
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10352216/ https://www.ncbi.nlm.nih.gov/pubmed/37458805 http://dx.doi.org/10.1186/s41687-023-00595-7

Ejemplares similares

Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers
por: Harrington, Magdalena, et al.
Publicado: (2019)

Intrathecal baclofen in metachromatic leukodystrophy
por: van der Veldt, Nikki, et al.
Publicado: (2018)

Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale
por: Brown, T. Michelle, et al.
Publicado: (2018)

An international study of caregiver-reported burden and quality of life in metachromatic leukodystrophy
por: Sevin, Caroline, et al.
Publicado: (2022)

Developing therapeutic approaches for metachromatic leukodystrophy
por: Patil, Shilpa A, et al.
Publicado: (2013)

Diffusion tensor imaging in metachromatic leukodystrophy
por: van Rappard, Diane F., et al.
Publicado: (2018)

Understanding caregiver descriptions of initial signs and symptoms to improve diagnosis of metachromatic leukodystrophy
por: Eichler, F., et al.
Publicado: (2022)

Acetobacter indonesiensis Bacteremia in Child with Metachromatic Leukodystrophy
por: Kohlmann, Rebekka, et al.
Publicado: (2016)

Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches
por: Shaimardanova, Alisa A., et al.
Publicado: (2020)

Phenotypic variation between siblings with Metachromatic Leukodystrophy
por: Elgün, Saskia, et al.
Publicado: (2019)

Metachromatic leukodystrophy and transplantation: remyelination, no cross‐correction
por: Wolf, Nicole I., et al.
Publicado: (2020)

Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy
por: Meier, Kolja, et al.
Publicado: (2020)

Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
por: Schoenmakers, Daphne H., et al.
Publicado: (2022)

Multi-Voxel 1H-MRS in Metachromatic Leukodystrophy
por: Assadi, Mitra, et al.
Publicado: (2013)

Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy
por: Dali, Christine í, et al.
Publicado: (2015)

Classical case of late-infantile form of metachromatic leukodystrophy
por: Chauhan, Narvir Singh, et al.
Publicado: (2016)

Central Precocious Puberty in a Child With Metachromatic Leukodystrophy
por: Belli, Gilda, et al.
Publicado: (2018)

Infantile Metachromatic Leukodystrophy (MLD): A Rare Case
por: Gajbhiye, Varsha, et al.
Publicado: (2022)

Clinical Significance of Diffusion Tensor Imaging in Metachromatic Leukodystrophy
por: Amedick, Lucas Bastian, et al.
Publicado: (2023)

Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy
por: Tillema, Jan-Mendelt, et al.
Publicado: (2015)

Identification of Novel ARSA Mutations in Chinese Patients with Metachromatic Leukodystrophy
por: Chen, Li, et al.
Publicado: (2018)

Electroneurography and Advanced Neuroimaging Profile in Pediatric-onset Metachromatic Leukodystrophy
por: Raina, Abhinav, et al.
Publicado: (2019)

Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy
por: Strölin, Manuel, et al.
Publicado: (2017)

Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective
por: Beerepoot, Shanice, et al.
Publicado: (2019)

Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort
por: Kehrer, Christiane, et al.
Publicado: (2014)

Biochemical and Genetic Analysis of Seven Korean Individuals With Suspected Metachromatic Leukodystrophy
por: Han, Minje, et al.
Publicado: (2015)

Cerebral Spinal Fluid levels of Cytokines are elevated in Patients with Metachromatic Leukodystrophy
por: Thibert, Kathryn A., et al.
Publicado: (2016)

A closer look at ARSA activity in a patient with metachromatic leukodystrophy
por: Doherty, Kathleen, et al.
Publicado: (2019)

Complete Correction of Brain and Spinal Cord Pathology in Metachromatic Leukodystrophy Mice
por: Audouard, Emilie, et al.
Publicado: (2021)

Recognizing early MRI signs (or their absence) is crucial in diagnosing metachromatic leukodystrophy
por: Schoenmakers, Daphne H., et al.
Publicado: (2022)

An in silico approach to identify early damage biomarker candidates in metachromatic leukodystrophy
por: Gómez, Jessica, et al.
Publicado: (2023)

Neurodegenerative disease after hematopoietic stem cell transplantation in metachromatic leukodystrophy
por: Al‐Saady, Murtadha, et al.
Publicado: (2023)

The importance of early diagnosis and views on newborn screening in metachromatic leukodystrophy: results of a Caregiver Survey in the UK and Republic of Ireland
por: Morton, Georgina, et al.
Publicado: (2022)

Population Carrier Rates of Pathogenic ARSA Gene Mutations: Is Metachromatic Leukodystrophy Underdiagnosed?
por: Ługowska, Agnieszka, et al.
Publicado: (2011)

Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy
por: Singh, Paramdeep, et al.
Publicado: (2016)

Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study
por: í Dali, Christine, et al.
Publicado: (2020)

T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy
por: Martin, Pascal, et al.
Publicado: (2020)

Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy
por: Beerepoot, Shanice, et al.
Publicado: (2021)

MR-spectroscopy in metachromatic leukodystrophy: A model free approach and clinical correlation
por: Feldmann, Joana, et al.
Publicado: (2022)

Undiagnosed Metachromatic Leukodystrophy Presenting as Severe Gastrointestinal Bleeding and Cholestasis from Hemobilia
por: Stevens, James P., et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_3efelkklqs8n52hgbblerc0f5e