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Communications Medicine
|
January 9, 2025
Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series
Nishitha R Pillai, Ning Liu, Xiyuan Li, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2021
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature
Vishnu Anand Cuddapah, Holly A Dubbs, Laura Adang, et al.
Molecular Genetics and Metabolism
|
November 5, 2022
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome
Asako Takanohashi, Mohamad-Gabriel Alameh, Sarah Woidill, et al.
Biorxiv : the Preprint Server for Biology
|
April 1, 2024
Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations
Lucas Tricoli, Sunetra Sase, Julia Hacker, et al.
Journal of Child Neurology
|
July 18, 2023
Gross Motor Function in Pediatric Onset <i>TUBB4A</i>-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in <i>TUBB4A</i>
Francesco Gavazzi, Virali Patel, Brittany Charsar, 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.
Journal of Child Neurology
|
July 27, 2023
Exploration of Gross Motor Function in Aicardi-Goutières Syndrome
Francesco Gavazzi, Allan M Glanzman, Sarah Woidill, et al.
Pediatric Neurology
|
August 14, 2025
Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity
Costanza Varesio, Davide Politano, Laura Adang, et al.
Journal of Inherited Metabolic Disease
|
December 29, 2020
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines
Eric J Mallack, Bela R Turk, Helena Yan, et al.
Analytical Chemistry
|
January 11, 2020
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry
Xinying Hong, Arun Babu Kumar, Jessica Daiker, et al.
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Search research articles
Search
Showing results (21-30 of 35) with videos related to
Sort By:
Page
of 4
Communications Medicine
|
January 9, 2025
Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series
Nishitha R Pillai, Ning Liu, Xiyuan Li, et al.
American Journal of Medical Genetics. Part A
|
March 22, 2021
Understanding the phenotypic spectrum of ASXL-related disease: Ten cases and a review of the literature
Vishnu Anand Cuddapah, Holly A Dubbs, Laura Adang, et al.
Molecular Genetics and Metabolism
|
November 5, 2022
SARS-CoV-2 mRNA-based vaccines in the Aicardi Goutières Syndrome
Asako Takanohashi, Mohamad-Gabriel Alameh, Sarah Woidill, et al.
Biorxiv : the Preprint Server for Biology
|
April 1, 2024
Effective Gene Therapy for Metachromatic Leukodystrophy Achieved with Minimal Lentiviral Genomic Integrations
Lucas Tricoli, Sunetra Sase, Julia Hacker, et al.
Journal of Child Neurology
|
July 18, 2023
Gross Motor Function in Pediatric Onset <i>TUBB4A</i>-Related Leukodystrophy: GMFM-88 Performance and Validation of GMFC-MLD in <i>TUBB4A</i>
Francesco Gavazzi, Virali Patel, Brittany Charsar, 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.
Journal of Child Neurology
|
July 27, 2023
Exploration of Gross Motor Function in Aicardi-Goutières Syndrome
Francesco Gavazzi, Allan M Glanzman, Sarah Woidill, et al.
Pediatric Neurology
|
August 14, 2025
Clinical Characterization of a Multicenter International Cohort of Patients With Aicardi-Goutières Syndrome Homozygous for the RNASEH2B:p.Ala177Thr Variant: Early Clinical Markers of Disease Severity
Costanza Varesio, Davide Politano, Laura Adang, et al.
Journal of Inherited Metabolic Disease
|
December 29, 2020
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: Meta-analysis and consensus guidelines
Eric J Mallack, Bela R Turk, Helena Yan, et al.
Analytical Chemistry
|
January 11, 2020
Leukocyte and Dried Blood Spot Arylsulfatase A Assay by Tandem Mass Spectrometry
Xinying Hong, Arun Babu Kumar, Jessica Daiker, et al.
Page
of 4