Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review.
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| Title: | Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review. |
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| Authors: | Rostami P; Division of Pediatric Endocrinology and Metabolism, Growth and Development Research Center, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Hosseinpour S; Myelin Disorders Clinic (Iranian Neurometabolic Registry), Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Ashrafi MR; Myelin Disorders Clinic (Iranian Neurometabolic Registry), Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Alizadeh H; Division of Pediatric Radiology, Department of Pediatrics, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Garshasbi M; Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Teheran, Iran. masoud.garshasbi@modares.ac.ir., Tavasoli AR; Myelin Disorders Clinic (Iranian Neurometabolic Registry), Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran. a_tavasoli@sina.tums.ac.ir. |
| Source: | Acta neurologica Belgica [Acta Neurol Belg] 2020 Jun; Vol. 120 (3), pp. 511-516. Date of Electronic Publication: 2019 Jun 20. |
| Publication Type: | Case Reports; Journal Article; Review |
| Journal Info: | Publisher: Springer Country of Publication: Italy NLM ID: 0247035 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2240-2993 (Electronic) Linking ISSN: 03009009 NLM ISO Abbreviation: Acta Neurol Belg Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 2240-2993 |
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| DOI: | 10.1007/s13760-019-01168-6 |
