HTRA2 Defect: A Recognizable Inborn Error of Metabolism with 3-Methylglutaconic Aciduria as Discriminating Feature Characterized by Neonatal Movement Disorder and Epilepsy-Report of 11 Patients. [electronic resource]
Producer: 20191022Description: 373-378 p. digitalISSN:- 1439-1899
- Developmental Disabilities -- diagnosis
- Dystonia -- diagnosis
- Epilepsy -- diagnosis
- Fatal Outcome
- Female
- High-Temperature Requirement A Serine Peptidase 2 -- deficiency
- Humans
- Infant
- Infant, Newborn
- Infant, Newborn, Diseases
- Male
- Metabolism, Inborn Errors -- complications
- Mitochondrial Diseases -- complications
- Movement Disorders -- diagnosis
- Respiratory Insufficiency -- diagnosis
- Tremor -- diagnosis
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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