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Developmental Medicine and Child Neurology
|
November 26, 2019
Pyridoxine-dependent epilepsy is more than just epilepsy
Curtis R Coughlin
Journal of Inherited Metabolic Disease
|
May 10, 2023
Is it time to start to consider treating the liver in glutaric aciduria type 1?
Sander Houten, Curtis R Coughlin
Journal of Inherited Metabolic Disease
|
January 29, 2010
Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency
Curtis R Coughlin, Can Ficicioglu
Annals of the Child Neurology Society
|
August 20, 2025
Pyridoxine-dependent epilepsy: Current perspectives and questions for future research
Curtis R Coughlin, Sidney M Gospe
The Medical Clinics of North America
|
October 5, 2019
Genetic Testing: Consent and Result Disclosure for Primary Care Providers
W Andrew Faucett, Holly Peay, Curtis R Coughlin
The Journal of Urology
|
October 28, 2008
Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children
Ralph J DeBerardinis, Curtis R Coughlin, Paige Kaplan
Genome Medicine
|
November 2, 2012
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns
Curtis R Coughlin, Gunter H Scharer, Tamim H Shaikh
JIMD Reports
|
February 23, 2013
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report
Curtis R Coughlin, Keith Hyland, Rebecca Randall, et al.
The Journal of Pediatrics
|
January 9, 2010
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry
Can Ficicioglu, Curtis R Coughlin, Michael J Bennett, et al.
Journal of Inherited Metabolic Disease
|
April 9, 2026
Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders
Curtis R Coughlin, John Barber, Chaya N Murali, et al.
Page
of 7
Search research articles
Search
Showing results (1-10 of 63) with videos related to
Sort By:
Page
of 7
Developmental Medicine and Child Neurology
|
November 26, 2019
Pyridoxine-dependent epilepsy is more than just epilepsy
Curtis R Coughlin
Journal of Inherited Metabolic Disease
|
May 10, 2023
Is it time to start to consider treating the liver in glutaric aciduria type 1?
Sander Houten, Curtis R Coughlin
Journal of Inherited Metabolic Disease
|
January 29, 2010
Genotype-phenotype correlations: sudden death in an infant with very-long-chain acyl-CoA dehydrogenase deficiency
Curtis R Coughlin, Can Ficicioglu
Annals of the Child Neurology Society
|
August 20, 2025
Pyridoxine-dependent epilepsy: Current perspectives and questions for future research
Curtis R Coughlin, Sidney M Gospe
The Medical Clinics of North America
|
October 5, 2019
Genetic Testing: Consent and Result Disclosure for Primary Care Providers
W Andrew Faucett, Holly Peay, Curtis R Coughlin
The Journal of Urology
|
October 28, 2008
Penicillamine therapy for pediatric cystinuria: experience from a cohort of American children
Ralph J DeBerardinis, Curtis R Coughlin, Paige Kaplan
Genome Medicine
|
November 2, 2012
Clinical impact of copy number variation analysis using high-resolution microarray technologies: advantages, limitations and concerns
Curtis R Coughlin, Gunter H Scharer, Tamim H Shaikh
JIMD Reports
|
February 23, 2013
Dihydropteridine reductase deficiency and treatment with tetrahydrobiopterin: a case report
Curtis R Coughlin, Keith Hyland, Rebecca Randall, et al.
The Journal of Pediatrics
|
January 9, 2010
Very long-chain acyl-CoA dehydrogenase deficiency in a patient with normal newborn screening by tandem mass spectrometry
Can Ficicioglu, Curtis R Coughlin, Michael J Bennett, et al.
Journal of Inherited Metabolic Disease
|
April 9, 2026
Self-Reported Health-Related Quality of Life (HRQoL) in Adults With Urea Cycle Disorders
Curtis R Coughlin, John Barber, Chaya N Murali, et al.
Page
of 7