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Molecular Genetics and Metabolism
|
June 9, 2009
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification
Efraim H Rosenberg, Eduard A Struys, Keith Hyland, et al.
Annals of Neurology
|
January 15, 2009
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
Renata C Gallagher, Johan L K Van Hove, Gunter Scharer, et al.
American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
|
March 19, 2005
Tetrahydrobiopterin deficiency exaggerates intimal hyperplasia after vascular injury
Chao-Hung Wang, Shu-Hong Li, Richard D Weisel, et al.
The Journal of Infectious Diseases
|
February 22, 2021
Cerebrospinal Fluid Pterins, Pterin-Dependent Neurotransmitters, and Mortality in Pediatric Cerebral Malaria
Matthew P Rubach, Jackson P Mukemba, Salvatore M Florence, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
December 17, 2009
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
Rodney C Samaco, Caleigh Mandel-Brehm, Hsiao-Tuan Chao, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder
Zoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 5, 2020
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity
Alba Tristán-Noguero, Eva Borràs, Marta Molero-Luis, et al.
JAMA Neurology
|
January 29, 2024
Multiomic Analysis of Neuroinflammation and Occult Infection in Sudden Infant Death Syndrome
Prashanth S Ramachandran, Benjamin W Okaty, Molly Riehs, et al.
The American Journal of Psychiatry
|
August 16, 2016
Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior
Lisa A Pan, Petra Martin, Thomas Zimmer, et al.
Brain : a Journal of Neurology
|
March 12, 2014
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
Joanne Ng, Juan Zhen, Esther Meyer, et al.
Page
of 7
Search research articles
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Showing results (51-60 of 65) with videos related to
Sort By:
Page
of 7
Molecular Genetics and Metabolism
|
June 9, 2009
Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification
Efraim H Rosenberg, Eduard A Struys, Keith Hyland, et al.
Annals of Neurology
|
January 15, 2009
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy
Renata C Gallagher, Johan L K Van Hove, Gunter Scharer, et al.
American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
|
March 19, 2005
Tetrahydrobiopterin deficiency exaggerates intimal hyperplasia after vascular injury
Chao-Hung Wang, Shu-Hong Li, Richard D Weisel, et al.
The Journal of Infectious Diseases
|
February 22, 2021
Cerebrospinal Fluid Pterins, Pterin-Dependent Neurotransmitters, and Mortality in Pediatric Cerebral Malaria
Matthew P Rubach, Jackson P Mukemba, Salvatore M Florence, et al.
Proceedings of the National Academy of Sciences of the United States of America
|
December 17, 2009
Loss of MeCP2 in aminergic neurons causes cell-autonomous defects in neurotransmitter synthesis and specific behavioral abnormalities
Rodney C Samaco, Caleigh Mandel-Brehm, Hsiao-Tuan Chao, et al.
Journal of Inherited Metabolic Disease
|
March 25, 2026
Clinical and Genetic Characteristics of Free Sialic Acid Storage Disorder
Zoe Wolfenson, Gabriella Grois, Ruth F Hailemeskel, et al.
Movement Disorders : Official Journal of the Movement Disorder Society
|
November 5, 2020
Novel Protein Biomarkers of Monoamine Metabolism Defects Correlate with Disease Severity
Alba Tristán-Noguero, Eva Borràs, Marta Molero-Luis, et al.
JAMA Neurology
|
January 29, 2024
Multiomic Analysis of Neuroinflammation and Occult Infection in Sudden Infant Death Syndrome
Prashanth S Ramachandran, Benjamin W Okaty, Molly Riehs, et al.
The American Journal of Psychiatry
|
August 16, 2016
Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior
Lisa A Pan, Petra Martin, Thomas Zimmer, et al.
Brain : a Journal of Neurology
|
March 12, 2014
Dopamine transporter deficiency syndrome: phenotypic spectrum from infancy to adulthood
Joanne Ng, Juan Zhen, Esther Meyer, et al.
Page
of 7