LOW CREATININE: THE DIAGNOSTIC CLUE FOR A TREATABLE NEUROLOGIC DISORDER
Author:
Publisher
Ovid Technologies (Wolters Kluwer Health)
Subject
Neurology (clinical)
Cited by 12 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. GAMT Deficiency Among Pediatric Population: Clinical and Molecular Characteristics and Management;Child Neurology Open;2023-01
2. Phenotypic and molecular spectrum of guanidinoacetate N-Methyltransferase deficiency: An analytical study of a case series and a scoping review of 53 cases of guanidinoacetate N-Methyltransferase;Journal of Microscopy and Ultrastructure;2022
3. Laboratory Diagnosis of Cerebral Creatine Deficiency Syndromes by Determining Creatine and Guanidinoacetate in Plasma and Urine;Clinical Applications of Mass Spectrometry in Biomolecular Analysis;2022
4. Prospective identification by neonatal screening of patients with guanidinoacetate methyltransferase deficiency;Molecular Genetics and Metabolism;2021-09
5. Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics;Genetics in Medicine;2017-02
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