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Molecular Genetics and Metabolism
|
September 17, 2018
Aicardi goutières syndrome is associated with pulmonary hypertension
Laura A Adang, David B Frank, Ahmed Gilani, et al.
Molecular Genetics and Metabolism
|
July 25, 2022
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN)
Francesco Gavazzi, Samuel R Pierce, Joseph Vithayathil, et al.
International Journal of Neonatal Screening
|
April 25, 2022
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
Jessica R C Priestley, Laura A Adang, Sarah Drewes Williams, et al.
Journal of Child Neurology
|
March 27, 2024
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome
Stacy V Cusack, Francesco Gavazzi, Isabella Peixoto de Barcelos, et al.
Molecular Genetics and Metabolism
|
March 5, 2026
Design of a Pediatric Low Motor Function Item Battery in leukodystrophies
Francesco Gavazzi, Sarah Woidill, Anjana Sevagamoorthy, 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.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
August 22, 2024
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency
Vi Pham, Lucas Tricoli, Xinying Hong, et al.
Molecular Genetics and Metabolism
|
October 16, 2025
Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN)
Francesco Gavazzi, Samuel R Pierce, Vanessa Smith, 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
|
October 23, 2023
Biochemical signatures of disease severity in multiple sulfatase deficiency
Laura A Adang, Samar Mowafy, Zackary M Herbst, et al.
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of 5
Search research articles
Search
Showing results (21-30 of 49) with videos related to
Sort By:
Page
of 5
Molecular Genetics and Metabolism
|
September 17, 2018
Aicardi goutières syndrome is associated with pulmonary hypertension
Laura A Adang, David B Frank, Ahmed Gilani, et al.
Molecular Genetics and Metabolism
|
July 25, 2022
Psychometric outcome measures in beta-propeller protein-associated neurodegeneration (BPAN)
Francesco Gavazzi, Samuel R Pierce, Joseph Vithayathil, et al.
International Journal of Neonatal Screening
|
April 25, 2022
Newborn Screening for X-Linked Adrenoleukodystrophy: Review of Data and Outcomes in Pennsylvania
Jessica R C Priestley, Laura A Adang, Sarah Drewes Williams, et al.
Journal of Child Neurology
|
March 27, 2024
Characterization of Fine Motor and Visual Motor Skills in Aicardi-Goutières Syndrome
Stacy V Cusack, Francesco Gavazzi, Isabella Peixoto de Barcelos, et al.
Molecular Genetics and Metabolism
|
March 5, 2026
Design of a Pediatric Low Motor Function Item Battery in leukodystrophies
Francesco Gavazzi, Sarah Woidill, Anjana Sevagamoorthy, 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.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
August 22, 2024
Hematopoietic stem cell gene therapy improves outcomes in a clinically relevant mouse model of multiple sulfatase deficiency
Vi Pham, Lucas Tricoli, Xinying Hong, et al.
Molecular Genetics and Metabolism
|
October 16, 2025
Functional ability profiles in beta-propeller protein-associated neurodegeneration (BPAN)
Francesco Gavazzi, Samuel R Pierce, Vanessa Smith, 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
|
October 23, 2023
Biochemical signatures of disease severity in multiple sulfatase deficiency
Laura A Adang, Samar Mowafy, Zackary M Herbst, et al.
Page
of 5