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The Journal of Pediatrics
|
September 17, 2011
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement
Maïlys Guillard, Eva Morava, Jorg de Ruijter, et al.
Molecular Genetics and Metabolism
|
December 4, 2014
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome
Marleen C D G Huigen, Marinette van der Graaf, Eva Morava, et al.
Molecular Genetics and Metabolism
|
May 4, 2024
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines
Rameen Shah, Erik A Eklund, Silvia Radenkovic, et al.
American Journal of Medical Genetics. Part A
|
November 14, 2008
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency
Despina Contopoulos-Ioannidis, Athanasios Evangeliou, Henk ter Laak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 9, 2018
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Peter Witters, Tomas Honzik, Eric Bauchart, et al.
Molecular Genetics and Metabolism
|
May 12, 2024
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)
Rodrigo Tzovenos Starosta, Angela J Lee, Elizabeth R Toolan, et al.
Kidney International Reports
|
June 17, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease
Daniel R Schecter, Rory J Tinker, Patrick O'Connell, et al.
Genes
|
August 26, 2023
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG
Anna N Ligezka, Rohit Budhraja, Yurika Nishiyama, et al.
Frontiers in Genetics
|
May 21, 2024
Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker
Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, et al.
Biochemical and Biophysical Research Communications
|
July 31, 2007
Null mutations and lethal congenital form of glycogen storage disease type IV
Stefania Assereto, Otto P van Diggelen, Luisa Diogo, et al.
Page
of 36
Search research articles
Search
Showing results (231-240 of 355) with videos related to
Sort By:
Page
of 36
The Journal of Pediatrics
|
September 17, 2011
B4GALT1-congenital disorders of glycosylation presents as a non-neurologic glycosylation disorder with hepatointestinal involvement
Maïlys Guillard, Eva Morava, Jorg de Ruijter, et al.
Molecular Genetics and Metabolism
|
December 4, 2014
Cerebral lipid accumulation in Chanarin-Dorfman Syndrome
Marleen C D G Huigen, Marinette van der Graaf, Eva Morava, et al.
Molecular Genetics and Metabolism
|
May 4, 2024
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines
Rameen Shah, Erik A Eklund, Silvia Radenkovic, et al.
American Journal of Medical Genetics. Part A
|
November 14, 2008
Recurrent rhabdomyolysis in a patient with oculocutaneous albinism type 1 and platelet storage-pool deficiency
Despina Contopoulos-Ioannidis, Athanasios Evangeliou, Henk ter Laak, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
October 9, 2018
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Peter Witters, Tomas Honzik, Eric Bauchart, et al.
Molecular Genetics and Metabolism
|
May 12, 2024
D-mannose as a new therapy for fucokinase deficiency-related congenital disorder of glycosylation (FCSK-CDG)
Rodrigo Tzovenos Starosta, Angela J Lee, Elizabeth R Toolan, et al.
Kidney International Reports
|
June 17, 2026
Enrichment of Rare Mitochondrial DNA Variants Among Individuals With Kidney Disease Reveals Undiagnosed Mitochondrial Disease
Daniel R Schecter, Rory J Tinker, Patrick O'Connell, et al.
Genes
|
August 26, 2023
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG
Anna N Ligezka, Rohit Budhraja, Yurika Nishiyama, et al.
Frontiers in Genetics
|
May 21, 2024
Case report: Novel genotype of ALG2-CDG and confirmation of the heptasaccharide glycan (NeuAc-Gal-GlcNAc-Man2-GlcNAc2) as a specific diagnostic biomarker
Ivan Martínez Duncker, Denisse Mata-Salgado, Ibrahim Shammas, et al.
Biochemical and Biophysical Research Communications
|
July 31, 2007
Null mutations and lethal congenital form of glycogen storage disease type IV
Stefania Assereto, Otto P van Diggelen, Luisa Diogo, et al.
Page
of 36