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July 27, 2024
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
Carlos F Mares Beltran, Christina G Tise, Rebekah Barrick, et al.
Journal of Inherited Metabolic Disease
|
February 6, 2026
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials
Mattias Rudebeck, Nancy Braverman, Richard Chang, et al.
Translational Vision Science & Technology
|
July 7, 2021
The Present and Future of Mitochondrial-Based Therapeutics for Eye Disease
Marco H Ji, Alexander Kreymerman, Kinsley Belle, et al.
Plos One
|
December 2, 2011
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
Laurie H Seaver, Xue-Ying He, Keith Abe, et al.
The Journal of Pediatrics
|
January 15, 2018
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network
Chloe M Reuter, Elise Brimble, Colette DeFilippo, et al.
Journal of Inherited Metabolic Disease
|
July 27, 2025
Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies
Markey McNutt, Frank Rutsch, Rossana Sanchez Russo, et al.
Molecular Genetics and Metabolism
|
February 22, 2002
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies
Susan R Hintz, Dietrich Matern, Arnold Strauss, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 7, 2011
High-quality DNA sequence capture of 524 disease candidate genes
Peidong Shen, Wenyi Wang, Sujatha Krishnakumar, et al.
JIMD Reports
|
February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 14, 2018
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia
Gang Peng, Peidong Shen, Neeru Gandotra, et al.
Page
of 14
Search research articles
Search
Showing results (61-70 of 135) with videos related to
Sort By:
Page
of 14
Genes
|
July 27, 2024
Newborn Screening for X-Linked Adrenoleukodystrophy (X-ALD): Biochemical, Molecular, and Clinical Characteristics of Other Genetic Conditions
Carlos F Mares Beltran, Christina G Tise, Rebekah Barrick, et al.
Journal of Inherited Metabolic Disease
|
February 6, 2026
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials
Mattias Rudebeck, Nancy Braverman, Richard Chang, et al.
Translational Vision Science & Technology
|
July 7, 2021
The Present and Future of Mitochondrial-Based Therapeutics for Eye Disease
Marco H Ji, Alexander Kreymerman, Kinsley Belle, et al.
Plos One
|
December 2, 2011
A novel mutation in the HSD17B10 gene of a 10-year-old boy with refractory epilepsy, choreoathetosis and learning disability
Laurie H Seaver, Xue-Ying He, Keith Abe, et al.
The Journal of Pediatrics
|
January 15, 2018
A New Approach to Rare Diseases of Children: The Undiagnosed Diseases Network
Chloe M Reuter, Elise Brimble, Colette DeFilippo, et al.
Journal of Inherited Metabolic Disease
|
July 27, 2025
Long-Term Efficacy and Tolerability of Pegzilarginase in Arginase 1 Deficiency: Results of Two International Multicentre Open-Label Extension Studies
Markey McNutt, Frank Rutsch, Rossana Sanchez Russo, et al.
Molecular Genetics and Metabolism
|
February 22, 2002
Early neonatal diagnosis of long-chain 3-hydroxyacyl coenzyme a dehydrogenase and mitochondrial trifunctional protein deficiencies
Susan R Hintz, Dietrich Matern, Arnold Strauss, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
April 7, 2011
High-quality DNA sequence capture of 524 disease candidate genes
Peidong Shen, Wenyi Wang, Sujatha Krishnakumar, et al.
JIMD Reports
|
February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
September 14, 2018
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia
Gang Peng, Peidong Shen, Neeru Gandotra, et al.
Page
of 14