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Molecular Genetics and Metabolism
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December 4, 2018
Hematopoietic cell transplantation for severe MPS I in the first six months of life: The heart of the matter
Elizabeth Braunlin, Kelly Miettunen, Troy Lund, et al.
Orphanet Journal of Rare Diseases
|
January 8, 2026
Living with adrenoleukodystrophy: adult patient and caregiver perspectives
Amena Smith Fine, Kathleen O' Sullivan-Fortin, Kelly Miettunen, et al.
Journal of Inherited Metabolic Disease
|
February 9, 2026
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy
Troy C Lund, Kelly Miettunen, Yorrick R J Jaspers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 9, 2025
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing
Carlos A Dominguez Gonzalez, Nancy B Spinner, Rebecca C Ahrens-Nicklas, et al.
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of 1
Search research articles
Search
Showing results (1-10 of 4) with videos related to
Sort By:
Page
of 1
Molecular Genetics and Metabolism
|
December 4, 2018
Hematopoietic cell transplantation for severe MPS I in the first six months of life: The heart of the matter
Elizabeth Braunlin, Kelly Miettunen, Troy Lund, et al.
Orphanet Journal of Rare Diseases
|
January 8, 2026
Living with adrenoleukodystrophy: adult patient and caregiver perspectives
Amena Smith Fine, Kathleen O' Sullivan-Fortin, Kelly Miettunen, et al.
Journal of Inherited Metabolic Disease
|
February 9, 2026
The Grey Zone Project: Risk-Based Classification of ABCD1 Variants in X-Linked Adrenoleukodystrophy
Troy C Lund, Kelly Miettunen, Yorrick R J Jaspers, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
April 9, 2025
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing
Carlos A Dominguez Gonzalez, Nancy B Spinner, Rebecca C Ahrens-Nicklas, et al.
Page
of 1