Nonketotic Hyperglycinemia: Two Case Reports and Review-Reference-Cited by-同舟云学术

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Nonketotic Hyperglycinemia: Two Case Reports and Review

Published:2019-07-03 Issue:3 Volume:59 Page:142-151
ISSN:2164-6821
Container-title:The Neurodiagnostic Journal
language:en
Short-container-title:The Neurodiagnostic Journal

Author:

Poothrikovil Rajesh P.¹,Al Thihli Khalid²,Al Futaisi Amna³,Al Murshidi Fathiya²

Affiliation:

1. Department of Clinical PhysiologySultan Qaboos University Hospital, Muscat, Sultanate of Oman

2. Department of Clinical GeneticsSultan Qaboos University Hospital, Muscat, Sultanate of Oman

3. Department of Child HealthSultan Qaboos University Hospital, Muscat, Sultanate of Oman

Publisher

Informa UK Limited

Subject

Medical Laboratory Technology,Neurology (clinical)

Link

https://www.tandfonline.com/doi/pdf/10.1080/21646821.2019.1645549

Reference11 articles.

1. Transient nonketotic hyperglycinemia: two case reports and literature review

2. Incidence of Inborn Errors of Metabolism in British Columbia, 1969–1996

3. Atypical variants of nonketotic hyperglycinemia

4. Non-ketotic hyperglycinaemia presenting as pachygyria

5. Aminoacidemias and Organic Acidemias

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1. Characterization of 13 Novel Genetic Variants in Genes Associated with Epilepsy: Implications for Targeted Therapeutic Strategies;Molecular Diagnosis & Therapy;2024-07-14

2. Glycine disrupts myelin, glutamatergic neurotransmission, and redox homeostasis in a neonatal model for non ketotic hyperglycinemia;Biochimie;2024-04

3. Non-Ketotic Hyperglycinemia: A Rare Presentation with Neurological and Skeletal Abnormalities;Journal of the College of Physicians and Surgeons Pakistan;2024-03-01

4. Efficacy and safety of ketamine for neonatal refractory status epilepticus: case report and systematic review;Frontiers in Pediatrics;2023-06-02

5. Clinical and genetic analysis of nonketotic hyperglycinemia: A case report;World Journal of Clinical Cases;2022-08-06

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