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Hyperphosphatasia with Impaired Intellectual Development Syndrome in a Toddler: Diagnostic Challenges and Therapeutic Approach.

作者信息

Panda Prateek Kumar, Palayullakandi Achanya, Gupta Diksha, Sopanam Suthiraj, Kaur Amanjot, Deo Vijay Kumar, Kumar Sachin, Sharawat Indar Kumar

机构信息

Pediatric Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Rishikesh, Uttarakhand, 249203, India.

出版信息

Indian J Pediatr. 2025 Mar;92(3):311. doi: 10.1007/s12098-024-05372-y. Epub 2024 Dec 23.

DOI:10.1007/s12098-024-05372-y
PMID:39714758
Abstract
摘要

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引用本文的文献

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Indian J Pediatr. 2025 Jun;92(6):575-576. doi: 10.1007/s12098-025-05553-3. Epub 2025 Apr 30.

本文引用的文献

1
Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders.罕见遗传性发育障碍：马布里综合征（MIM 239300）索引病例和糖磷脂酰肌醇（GPI）障碍。
Genes (Basel). 2024 May 14;15(5):619. doi: 10.3390/genes15050619.
2
Excluding Digenic Inheritance of and Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).排除 Mabry 综合征（OMIM 239300）患者的 和 双基因遗传：与智力障碍伴高磷酸酶血症 3 型（HPMRS3）相关的 基因变异的表型谱。
Genes (Basel). 2023 Jan 30;14(2):359. doi: 10.3390/genes14020359.
3
Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.
伴智力发育迟缓的高磷酸酶血症综合征3：脑脊液异常及维生素B6和亚叶酸的纠正作用
JIMD Rep. 2022 Nov 22;64(1):42-52. doi: 10.1002/jmd2.12347. eCollection 2023 Jan.
4
Pyridoxine or pyridoxal-5-phosphate treatment for seizures in glycosylphosphatidylinositol deficiency: A cohort study.吡哆醇或吡哆醛-5-磷酸治疗糖基磷脂酰肌醇缺乏症相关癫痫发作：一项队列研究。
Dev Med Child Neurol. 2022 Jun;64(6):789-798. doi: 10.1111/dmcn.15142. Epub 2022 Jan 26.