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Journal of Child Neurology
|
April 26, 2021
Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy
Jaehyung Lim, Brian J Shayota, Erica Lay, et al.
American Journal of Medical Genetics. Part A
|
March 14, 2019
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy
Allison Tam, Noura Salem AlDhaheri, Krupa Mysore, et al.
Molecular Genetics and Metabolism Reports
|
November 11, 2025
Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy
Steven H Lang, Andres Caceres Salgado, Matthew T Snyder, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 28, 2020
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
Peter Witters, Shawn Tahata, Rita Barone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 23, 2009
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects
Ayman W El-Hattab, Fang-Yuan Li, Joseph Shen, et al.
Movement Disorders Clinical Practice
|
May 3, 2024
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant
Jonna Komulainen-Ebrahim, Salla M Kangas, Estrella López-Martín, et al.
Global Pediatric Health
|
March 1, 2019
Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study
Robin P Goin-Kochel, Fernando Scaglia, Christian P Schaaf, et al.
Molecular Genetics and Metabolism
|
January 9, 2025
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes
Charles R DiFalco, Charul Gijavanekar, Yue Wang, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2009
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
Margaret J Wat, Oleg A Shchelochkov, Ashley M Holder, et al.
Journal of Autism and Developmental Disorders
|
November 21, 2007
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency
Paolo Moretti, Sarika U Peters, Daniela Del Gaudio, et al.
Page
of 19
Search research articles
Search
Showing results (111-120 of 190) with videos related to
Sort By:
Page
of 19
Journal of Child Neurology
|
April 26, 2021
Acute Strokelike Presentation and Long-term Evolution of Diffusion Restriction Pattern in Ethylmalonic Encephalopathy
Jaehyung Lim, Brian J Shayota, Erica Lay, et al.
American Journal of Medical Genetics. Part A
|
March 14, 2019
Improved clinical outcome following liver transplant in patients with ethylmalonic encephalopathy
Allison Tam, Noura Salem AlDhaheri, Krupa Mysore, et al.
Molecular Genetics and Metabolism Reports
|
November 11, 2025
Biochemical and clinical response to a sulfur-restricted diet in ethylmalonic encephalopathy
Steven H Lang, Andres Caceres Salgado, Matthew T Snyder, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
February 28, 2020
Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG
Peter Witters, Shawn Tahata, Rita Barone, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics
|
December 23, 2009
Maternal systemic primary carnitine deficiency uncovered by newborn screening: clinical, biochemical, and molecular aspects
Ayman W El-Hattab, Fang-Yuan Li, Joseph Shen, et al.
Movement Disorders Clinical Practice
|
May 3, 2024
Hyperkinetic Movement Disorder Caused by the Recurrent c.892C>T NACC1 Variant
Jonna Komulainen-Ebrahim, Salla M Kangas, Estrella López-Martín, et al.
Global Pediatric Health
|
March 1, 2019
Side Effects and Behavioral Outcomes Following High-Dose Carnitine Supplementation Among Young Males With Autism Spectrum Disorder: A Pilot Study
Robin P Goin-Kochel, Fernando Scaglia, Christian P Schaaf, et al.
Molecular Genetics and Metabolism
|
January 9, 2025
Untargeted metabolomics analysis as a potential screening tool for 3-methylglutaconic aciduria syndromes
Charles R DiFalco, Charul Gijavanekar, Yue Wang, et al.
American Journal of Medical Genetics. Part A
|
July 17, 2009
Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia
Margaret J Wat, Oleg A Shchelochkov, Ashley M Holder, et al.
Journal of Autism and Developmental Disorders
|
November 21, 2007
Brief report: autistic symptoms, developmental regression, mental retardation, epilepsy, and dyskinesias in CNS folate deficiency
Paolo Moretti, Sarika U Peters, Daniela Del Gaudio, et al.
Page
of 19