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American Journal of Medical Genetics. Part A
|
January 20, 2005
14q32.3 deletion syndrome with autism
J Lawrence Merritt, Syed M Jalal, William J Barbaresi, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
December 17, 2013
Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L)
Hunter R Underhill, Si Houn Hahn, Susan L Hale, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
January 22, 2009
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy
J Lawrence Merritt, Tien Nguyen, Jan Daniels, et al.
American Journal of Medical Genetics. Part A
|
July 13, 2006
Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations
J Lawrence Merritt, Dawn Marie R Davis, Mark R Pittelkow, et al.
Molecular Genetics and Metabolism
|
April 20, 2006
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase
J Lawrence Merritt, Dietrich Matern, Jerry Vockley, et al.
Metabolic Brain Disease
|
March 13, 2026
Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review
Laura Konczal, Gregory M Enns, Andrea L Gropman, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 8, 2022
Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia
Thomas J Weber, Erik A Imel, Thomas O Carpenter, et al.
Archives of Neurology
|
January 11, 2007
Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery
William T Hu, Orhun H Kantarci, J Lawrence Merritt, et al.
American Journal of Medical Genetics. Part A
|
December 5, 2018
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy
Xiuhua Bozarth, Jennifer N Dines, Qian Cong, et al.
JPEN. Journal of Parenteral and Enteral Nutrition
|
October 21, 2020
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders
Marie K Norris, Anna I Scott, Sarah Sullivan, et al.
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of 5
Search research articles
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Showing results (11-20 of 42) with videos related to
Sort By:
Page
of 5
American Journal of Medical Genetics. Part A
|
January 20, 2005
14q32.3 deletion syndrome with autism
J Lawrence Merritt, Syed M Jalal, William J Barbaresi, et al.
Pediatrics International : Official Journal of the Japan Pediatric Society
|
December 17, 2013
Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L)
Hunter R Underhill, Si Houn Hahn, Susan L Hale, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy
|
January 22, 2009
Biochemical correction of very long-chain acyl-CoA dehydrogenase deficiency following adeno-associated virus gene therapy
J Lawrence Merritt, Tien Nguyen, Jan Daniels, et al.
American Journal of Medical Genetics. Part A
|
July 13, 2006
Extensive acrochordons and pancreatic islet-cell tumors in tuberous sclerosis associated with TSC2 mutations
J Lawrence Merritt, Dawn Marie R Davis, Mark R Pittelkow, et al.
Molecular Genetics and Metabolism
|
April 20, 2006
In vitro characterization and in vivo expression of human very-long chain acyl-CoA dehydrogenase
J Lawrence Merritt, Dietrich Matern, Jerry Vockley, et al.
Metabolic Brain Disease
|
March 13, 2026
Emerging neurological and cognitive symptoms in patients with late-onset ornithine transcarbamylase deficiency: a narrative review
Laura Konczal, Gregory M Enns, Andrea L Gropman, et al.
The Journal of Clinical Endocrinology and Metabolism
|
September 8, 2022
Long-term Burosumab Administration Is Safe and Effective in Adults With X-linked Hypophosphatemia
Thomas J Weber, Erik A Imel, Thomas O Carpenter, et al.
Archives of Neurology
|
January 11, 2007
Ornithine transcarbamylase deficiency presenting as encephalopathy during adulthood following bariatric surgery
William T Hu, Orhun H Kantarci, J Lawrence Merritt, et al.
American Journal of Medical Genetics. Part A
|
December 5, 2018
Expanding clinical phenotype in CACNA1C related disorders: From neonatal onset severe epileptic encephalopathy to late-onset epilepsy
Xiuhua Bozarth, Jennifer N Dines, Qian Cong, et al.
JPEN. Journal of Parenteral and Enteral Nutrition
|
October 21, 2020
Tutorial: Triheptanoin and Nutrition Management for Treatment of Long-Chain Fatty Acid Oxidation Disorders
Marie K Norris, Anna I Scott, Sarah Sullivan, et al.
Page
of 5