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Fertility and Sterility
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June 6, 2017
Fertility in adult women with classic galactosemia and primary ovarian insufficiency
Britt van Erven, Gerard T Berry, David Cassiman, et al.
Annals of Neurology
|
April 25, 2019
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
Roland Posset, Andrea L Gropman, Sandesh C S Nagamani, et al.
Cold Spring Harbor Molecular Case Studies
|
September 15, 2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia
Niklas Smedemark-Margulies, Catherine A Brownstein, Sigella Vargas, et al.
American Journal of Human Genetics
|
December 31, 2005
Epimerase-deficiency galactosemia is not a binary condition
Kimberly K Openo, Jenny M Schulz, Claudia A Vargas, et al.
Molecular Genetics and Metabolism
|
March 24, 2026
A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy
Gerard T Berry, E Naomi Vos, Didem Demirbas, et al.
Molecular Genetics and Metabolism
|
April 15, 2017
Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma
Anne H O'Donnell-Luria, Alexander P Lin, Sai K Merugumala, et al.
Journal of Inherited Metabolic Disease
|
August 15, 2024
Health and well-being of maturing adults with classic galactosemia
Olivia S Garrett, Jared J Druss, E Naomi Vos, et al.
Orphanet Journal of Rare Diseases
|
November 28, 2018
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, et al.
Orphanet Journal of Rare Diseases
|
September 2, 2022
Galactose epimerase deficiency: lessons from the GalNet registry
Britt Derks, Didem Demirbas, Rodrigo R Arantes, et al.
Epilepsia
|
June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Annapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
Page
of 14
Search research articles
Search
Showing results (111-120 of 138) with videos related to
Sort By:
Page
of 14
Fertility and Sterility
|
June 6, 2017
Fertility in adult women with classic galactosemia and primary ovarian insufficiency
Britt van Erven, Gerard T Berry, David Cassiman, et al.
Annals of Neurology
|
April 25, 2019
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
Roland Posset, Andrea L Gropman, Sandesh C S Nagamani, et al.
Cold Spring Harbor Molecular Case Studies
|
September 15, 2016
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia
Niklas Smedemark-Margulies, Catherine A Brownstein, Sigella Vargas, et al.
American Journal of Human Genetics
|
December 31, 2005
Epimerase-deficiency galactosemia is not a binary condition
Kimberly K Openo, Jenny M Schulz, Claudia A Vargas, et al.
Molecular Genetics and Metabolism
|
March 24, 2026
A patient with a rare metabolic disease and myo-inositol administration leading to a new treatment for epilepsy
Gerard T Berry, E Naomi Vos, Didem Demirbas, et al.
Molecular Genetics and Metabolism
|
April 15, 2017
Brain MRS glutamine as a biomarker to guide therapy of hyperammonemic coma
Anne H O'Donnell-Luria, Alexander P Lin, Sai K Merugumala, et al.
Journal of Inherited Metabolic Disease
|
August 15, 2024
Health and well-being of maturing adults with classic galactosemia
Olivia S Garrett, Jared J Druss, E Naomi Vos, et al.
Orphanet Journal of Rare Diseases
|
November 28, 2018
Arginine does not rescue p.Q188R mutation deleterious effect in classic galactosemia
Minela Haskovic, Britt Derks, Liesbeth van der Ploeg, et al.
Orphanet Journal of Rare Diseases
|
September 2, 2022
Galactose epimerase deficiency: lessons from the GalNet registry
Britt Derks, Didem Demirbas, Rodrigo R Arantes, et al.
Epilepsia
|
June 14, 2012
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy
Annapurna Poduri, Sameer S Chopra, Edward G Neilan, et al.
Page
of 14