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American Journal of Human Genetics
|
October 7, 2004
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy
Richard J F L Lemmers, Mariëlle Wohlgemuth, Rune R Frants, et al.
Clinical Dysmorphology
|
March 14, 2007
Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome
Eva Morava, Ernie M H F Bongers, Wolfram Kress, et al.
Molecular Genetics and Metabolism
|
May 11, 2024
Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation
Rohit Budhraja, Silvia Radenkovic, Anu Jain, et al.
Orphanet Journal of Rare Diseases
|
March 21, 2021
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
Peter Witters, Hans Andersson, Jaak Jaeken, et al.
Journal of Inherited Metabolic Disease
|
February 18, 2015
Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease
Katharina Danhauser, Jan A M Smeitink, Peter Freisinger, et al.
The Journal of Biological Chemistry
|
July 26, 2024
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome
Johnathan M Mayfield, Naomi L Hitefield, Ignacy Czajewski, et al.
Cells
|
May 13, 2025
Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in <i>PGM1</i> and <i>NDUFA13</i>
Silvia Radenkovic, Isabelle Adant, Matthew J Bird, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review
Rita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 13, 2023
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions
Karthik Muthusamy, Judit M Perez-Ortiz, Anna N Ligezka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 14, 2015
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency
Irini Manoli, Jennifer G Myles, Jennifer L Sloan, et al.
Page
of 36
Search research articles
Search
Showing results (161-170 of 355) with videos related to
Sort By:
Page
of 36
American Journal of Human Genetics
|
October 7, 2004
Contractions of D4Z4 on 4qB subtelomeres do not cause facioscapulohumeral muscular dystrophy
Richard J F L Lemmers, Mariëlle Wohlgemuth, Rune R Frants, et al.
Clinical Dysmorphology
|
March 14, 2007
Encephalomyopathy and optic atrophy with tall stature and mitochondrial dysfunction: a new syndrome
Eva Morava, Ernie M H F Bongers, Wolfram Kress, et al.
Molecular Genetics and Metabolism
|
May 11, 2024
Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation
Rohit Budhraja, Silvia Radenkovic, Anu Jain, et al.
Orphanet Journal of Rare Diseases
|
March 21, 2021
D-galactose supplementation in individuals with PMM2-CDG: results of a multicenter, open label, prospective pilot clinical trial
Peter Witters, Hans Andersson, Jaak Jaeken, et al.
Journal of Inherited Metabolic Disease
|
February 18, 2015
Treatment options for lactic acidosis and metabolic crisis in children with mitochondrial disease
Katharina Danhauser, Jan A M Smeitink, Peter Freisinger, et al.
The Journal of Biological Chemistry
|
July 26, 2024
O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome
Johnathan M Mayfield, Naomi L Hitefield, Ignacy Czajewski, et al.
Cells
|
May 13, 2025
Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in <i>PGM1</i> and <i>NDUFA13</i>
Silvia Radenkovic, Isabelle Adant, Matthew J Bird, et al.
Journal of Inherited Metabolic Disease
|
February 12, 2019
Keeping an eye on congenital disorders of O-glycosylation: A systematic literature review
Rita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
November 13, 2023
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions
Karthik Muthusamy, Judit M Perez-Ortiz, Anna N Ligezka, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
August 14, 2015
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency
Irini Manoli, Jennifer G Myles, Jennifer L Sloan, et al.
Page
of 36