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Journal of the American Medical Informatics Association, ISSN 1067-5027, 2019, Volume 26, Issue 2, pp. 124 - 133
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2018, Volume 123, Issue 3, pp. 287 - 288
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 12/2016, Volume 58, Issue 12, pp. 1210 - 1211
This commentry is on the original article by Liu et al. on pages 1295–1302 of this issue. 
PEDIATRICS | CLINICAL NEUROLOGY
Journal Article
Pediatric neurology, ISSN 0887-8994, 2019
Background: Hereditary folate malabsorption is a multisystem disease owing to biallelic variants in the gene encoding the proton-coupled folate transporter.... 
Journal Article
Pediatrics, ISSN 0031-4005, 04/2018, Volume 141, Issue 4, p. e20172238
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 09/2019, Volume 381, Issue 12, pp. 1185 - 1185
To the Editor: The report by van Kuilenburg et al. (April 11 issue) 1 described the consequences of reduced glutaminase activity resulting from intronic... 
MEDICINE, GENERAL & INTERNAL
Journal Article
The New England journal of medicine, ISSN 0028-4793, 2019, Volume 381, Issue 12
Journal Article
Journal Article
Journal of the American Medical Informatics Association, ISSN 1067-5027, 2019, Volume 26, Issue 2, pp. 124 - 133
Objective: The clinical diagnosis of genetic disorders is undergoing transformation, driven by whole exome sequencing and whole genome sequencing (WES/WGS).... 
Journal Article
Handbook of clinical neurology, ISSN 0072-9752, 2019, Volume 162, p. 449
Inborn errors of metabolism, also known as inherited metabolic diseases, constitute an important group of conditions presenting with neurologic signs in... 
Journal Article
CONTINUUM Lifelong Learning in Neurology, ISSN 1080-2371, 02/2018, Volume 24, Issue 1, pp. 228 - 247
This article discusses the diagnostic evaluation of intellectual developmental disorder, comprising global developmental delay and intellectual disability in... 
Research | Neurological research | Mental retardation | Pediatric neurology | Child psychopathology
Journal Article
Pediatric Neurology, ISSN 0887-8994, 2019
Background: Hereditary folate malabsorption is a multisystem disease owing to biallelic variants in the gene encoding the proton-coupled folate transporter.... 
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 3/2017, Volume 32, Issue 4, pp. 403 - 407
Glutaminyl-tRNA synthetase (QARS) deficiency has been described to be a cause of a neurodegenerative disorder associated with severe developmental delay,... 
epilepsy | refractory | ketogenic diet | next-generation sequencing | antiseizure drugs | REFRACTORY EPILEPSY | PHENOTYPE | CLINICAL NEUROLOGY | IMPAIRMENT | KARS | PEDIATRICS | MUTATIONS | TRANSFER-RNA-SYNTHETASE
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2018, Volume 20, Issue 1, pp. 151 - 158
PurposeRecognizing individuals with inherited diseases can be difficult because signs and symptoms often overlap those of common medical conditions. Focusing... 
Journal Article
The New England Journal of Medicine, ISSN 0028-4793, 06/2016, Volume 374, Issue 23, pp. 2246 - 2255
Journal Article
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