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Molecular and Cellular Pediatrics
|
September 10, 2020
Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy
Judith Beschle, Michaela Döring, Christiane Kehrer, et al.
Stem Cells and Development
|
March 24, 2022
Hematopoietic Stem Cell Transplantation with Mesenchymal Stromal Cells in Children with Metachromatic Leukodystrophy
Karin Melanie Cabanillas Stanchi, Judith Böhringer, Manuel Strölin, et al.
Orphanet Journal of Rare Diseases
|
February 7, 2024
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
Daphne H Schoenmakers, Fanny Mochel, Laura A Adang, et al.
Journal of Inherited Metabolic Disease
|
August 5, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease
Laura A Adang, Lars Schlotawa, Samuel Groeschel, et al.
Journal of Inherited Metabolic Disease
|
August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy
Shanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.
Orphanet Journal of Rare Diseases
|
February 15, 2022
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
Daphne H Schoenmakers, Shanice Beerepoot, Sibren van den Berg, et al.
The New England Journal of Medicine
|
September 18, 2024
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
Lucia Laugwitz, Thomas P Mechtler, Nils Janzen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 30, 2024
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
Lucia Laugwitz, Daphne H Schoenmakers, Laura A Adang, et al.
Journal of Medical Genetics
|
October 17, 2021
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
Lucia Laugwitz, Annette Seibt, Diran Herebian, et al.
Neurology
|
June 27, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions
Marije A B C Asbreuk, Daphne H Schoenmakers, Laura Ann Adang, et al.
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of 9
Search research articles
Search
Showing results (71-80 of 86) with videos related to
Sort By:
Page
of 9
Molecular and Cellular Pediatrics
|
September 10, 2020
Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy
Judith Beschle, Michaela Döring, Christiane Kehrer, et al.
Stem Cells and Development
|
March 24, 2022
Hematopoietic Stem Cell Transplantation with Mesenchymal Stromal Cells in Children with Metachromatic Leukodystrophy
Karin Melanie Cabanillas Stanchi, Judith Böhringer, Manuel Strölin, et al.
Orphanet Journal of Rare Diseases
|
February 7, 2024
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
Daphne H Schoenmakers, Fanny Mochel, Laura A Adang, et al.
Journal of Inherited Metabolic Disease
|
August 5, 2020
Natural history of multiple sulfatase deficiency: Retrospective phenotyping and functional variant analysis to characterize an ultra-rare disease
Laura A Adang, Lars Schlotawa, Samuel Groeschel, et al.
Journal of Inherited Metabolic Disease
|
August 2, 2025
ARSA Variants Associated With Cognitive Decline and Long-Term Preservation of Motor Function in Metachromatic Leukodystrophy
Shanice Beerepoot, Daphne H Schoenmakers, Francesca Fumagalli, et al.
Orphanet Journal of Rare Diseases
|
February 15, 2022
Modified Delphi procedure-based expert consensus on endpoints for an international disease registry for Metachromatic Leukodystrophy: The European Metachromatic Leukodystrophy initiative (MLDi)
Daphne H Schoenmakers, Shanice Beerepoot, Sibren van den Berg, et al.
The New England Journal of Medicine
|
September 18, 2024
Newborn Screening and Presymptomatic Treatment of Metachromatic Leukodystrophy
Lucia Laugwitz, Thomas P Mechtler, Nils Janzen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
March 30, 2024
Newborn screening in metachromatic leukodystrophy - European consensus-based recommendations on clinical management
Lucia Laugwitz, Daphne H Schoenmakers, Laura A Adang, et al.
Journal of Medical Genetics
|
October 17, 2021
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes
Lucia Laugwitz, Annette Seibt, Diran Herebian, et al.
Neurology
|
June 27, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions
Marije A B C Asbreuk, Daphne H Schoenmakers, Laura Ann Adang, et al.
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of 9