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Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 20, 2020
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots
Xinying Hong, Jessica Daiker, Martin Sadilek, et al.
Molecular Genetics and Metabolism
|
March 29, 2024
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide
Soumeya Bekri, Annette Bley, Heather A Brown, et al.
Molecular Genetics and Metabolism
|
May 27, 2025
Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots
Austin Shaff, Khaja Basheeruddin, Soumeya Bekri, et al.
Molecular Genetics and Metabolism
|
May 20, 2026
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis
Pamela Kell, Sonali Mishra, Precilla D'Souza, 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.
Clinical Chemistry
|
February 16, 2017
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease
Na Lin, Jingyu Huang, Sara Violante, et al.
Molecular Genetics and Metabolism
|
December 31, 2023
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency
Vi Pham, Livia Sertori Finoti, Margaret M Cassidy, et al.
Journal of Lipid Research
|
June 16, 2019
<i>N</i>-acyl-<i>O</i>-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease
Rohini Sidhu, Yawo Mondjinou, Mingxing Qian, et al.
Neuron
|
May 7, 2020
Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction
Nadav I Weinstock, Daesung Shin, Narayan Dhimal, et al.
Molecular Genetics and Metabolism
|
July 28, 2023
Pilot study of newborn screening for six lysosomal diseases in Brazil
Francyne Kubaski, Ines Sousa, Tatiana Amorim, et al.
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Search research articles
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Showing results (31-40 of 43) with videos related to
Sort By:
Page
of 5
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 20, 2020
Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots
Xinying Hong, Jessica Daiker, Martin Sadilek, et al.
Molecular Genetics and Metabolism
|
March 29, 2024
Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide
Soumeya Bekri, Annette Bley, Heather A Brown, et al.
Molecular Genetics and Metabolism
|
May 27, 2025
Newborn screening for metachromatic leukodystrophy: Preparation of reagents and methodology for measurement of sulfatides and arylsulfatase A enzymatic activity in dried blood spots
Austin Shaff, Khaja Basheeruddin, Soumeya Bekri, et al.
Molecular Genetics and Metabolism
|
May 20, 2026
Diagnostic and therapeutic applications of the glycan biomarker H3N2b in GM1 Gangliosidosis
Pamela Kell, Sonali Mishra, Precilla D'Souza, 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.
Clinical Chemistry
|
February 16, 2017
Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease
Na Lin, Jingyu Huang, Sara Violante, et al.
Molecular Genetics and Metabolism
|
December 31, 2023
A novel iPSC model reveals selective vulnerability of neurons in multiple sulfatase deficiency
Vi Pham, Livia Sertori Finoti, Margaret M Cassidy, et al.
Journal of Lipid Research
|
June 16, 2019
<i>N</i>-acyl-<i>O</i>-phosphocholineserines: structures of a novel class of lipids that are biomarkers for Niemann-Pick C1 disease
Rohini Sidhu, Yawo Mondjinou, Mingxing Qian, et al.
Neuron
|
May 7, 2020
Macrophages Expressing GALC Improve Peripheral Krabbe Disease by a Mechanism Independent of Cross-Correction
Nadav I Weinstock, Daesung Shin, Narayan Dhimal, et al.
Molecular Genetics and Metabolism
|
July 28, 2023
Pilot study of newborn screening for six lysosomal diseases in Brazil
Francyne Kubaski, Ines Sousa, Tatiana Amorim, et al.
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of 5