Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function
2020 · Human Mutation · 107 citations
https://doi.org/10.1002/humu.23975
L
Laura Adang
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Laura Adang is an academic researcher from Children's Hospital of Philadelphia. The author has contributed to research in topics: interferon and immune responses & Lysosomal Storage Disorders Research & RNA regulation and disease. The author has an h-index of 26, co-authored 108 publications.
ORCID: 0000-0002-8454-1116Papers by this author
works<scp>MRI</scp> surveillance of boys with X‐linked adrenoleukodystrophy identified by newborn screening: Meta‐analysis and consensus guidelines
2020 · Journal of Inherited Metabolic Disease · 79 citations
https://doi.org/10.1002/jimd.12356
Inventory of current practices regarding hematopoietic stem cell transplantation in metachromatic leukodystrophy in Europe and neighboring countries
2024 · Orphanet Journal of Rare Diseases · 10 citations
https://doi.org/10.1186/s13023-024-03075-3
Biochemical signatures of disease severity in multiple sulfatase deficiency
2023 · Journal of Inherited Metabolic Disease · 7 citations
https://doi.org/10.1002/jimd.12688
Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome
2025 · Journal of Child Neurology · 3 citations
https://doi.org/10.1177/08830738251341530
Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series
2025 · Communications Medicine · 1 citations
https://doi.org/10.1038/s43856-024-00703-8
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