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Journal of Inherited Metabolic Disease, ISSN 0141-8955, 01/2019, Volume 42, Issue 1, pp. 140 - 146
BackgroundGlutamate formiminotransferase deficiency (FTCD deficiency) or formiminoglutamic aciduria is the second most common of the known inherited disorders... 
MEDICINE, RESEARCH & EXPERIMENTAL | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | FORMIMINOTRANSFERASE-DEFICIENCY SYNDROME | Phenotypes | Anemia | Intellectual disabilities | Case reports | Glutamate formiminotransferase | Aciduria | Mass spectroscopy | Infants | Medical screening | Folic acid | Hereditary diseases
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 06/2018, pp. 1 - 7
Glutamate formiminotransferase deficiency (FTCD deficiency) or formiminoglutamic aciduria is the second most common of the known inherited disorders of folate... 
Phenotypes | Anemia | Intellectual disabilities | Case reports | Glutamate formiminotransferase | Aciduria | Mass spectroscopy | Infants | Medical screening | Folic acid | Hereditary diseases
Journal Article
American Journal of Medical Genetics, Part A, ISSN 1552-4825, 2019, Volume 179, Issue 6, pp. 1042 - 1046
Neurofibromatosis type I (NF1) is a relatively common genetic disorder characterized by neurocutaneous lesions, neurofibromas, skeletal anomalies, iris... 
NF1 | neurofibromatosis | cardiomyopathy | fetal | HEART | DIAGNOSIS | GENOTYPE | GENETICS & HEREDITY | Genetic aspects | Cardiomyopathy | Heart diseases | Neurofibromatosis | Phenotypes | Lung diseases | Fetuses | Stenosis | Neurofibromin 1 | Coronary artery disease | Literature reviews | Differential diagnosis | Ventricle | Hypertrophy | Tumors
Journal Article
Genetics in Medicine, ISSN 1098-3600, 12/2016, Volume 18, Issue 12, pp. 1324 - 1324
Journal Article
Nature Medicine, ISSN 1078-8956, 06/2018, Volume 24, Issue 9, pp. 1 - 1482
In the version of this article originally published, a URL provided in the Methods section was incorrect. The URL had a solidus at the end but should have... 
Cortex (entorhinal) | Dentate gyrus | Antidepressants | Circuits | HyperText Markup Language | Solidus | Error correction
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 3108 - 3112
Journal Article
Nature Medicine, ISSN 1078-8956, 05/2018, Volume 24, Issue 5, pp. 658 - 666
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2018, Volume 123, Issue 2, pp. S18 - S18
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2017, Volume 120, Issue 1-2, pp. S18 - S19
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2019, Volume 126, Issue 2, pp. S131 - S131
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 02/2019, Volume 126, Issue 2, pp. S21 - S22
Journal Article
NeoReviews, 02/2019, Volume 20, Issue 2, pp. e90 - e92
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 03/2018, Volume 123, Issue 3, pp. 337 - 346
Journal Article
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