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Hemophagocytic Lymphohistiocytosis in Lysinuric Protein Intolerance.

作者信息

Nalmas Sanjana, Modrecha Akhil, Samprathi Madhusudan, Nayak Yankappa, Reddy Mounika

机构信息

All India Institute of Medical Sciences, Bibinagar, Hyderabad Metropolitan Region, Telangana, India.

Department of Pediatrics, All India Institute of Medical Sciences, Bibinagar, Hyderabad Metropolitan Region, Telangana, India.

出版信息

Indian J Pediatr. 2024 Dec;91(12):1292. doi: 10.1007/s12098-024-05215-w. Epub 2024 Aug 1.

DOI:10.1007/s12098-024-05215-w
PMID:39085730
Abstract
摘要

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本文引用的文献

1
Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.氨基酸代谢障碍性疾病——从基础病理生理学到治疗学进展。
Dis Model Mech. 2023 Nov 1;16(11). doi: 10.1242/dmm.050233. Epub 2023 Nov 23.
2
Rare diseases presenting with hemophagocytic lymphohistiocytosis.以噬血细胞性淋巴组织细胞增生症为表现的罕见病。
Pediatr Int. 2023 Jan-Dec;65(1):e15516. doi: 10.1111/ped.15516.
3
The diagnosis and management of Gaucher disease in pediatric patients: Where do we go from here?儿童戈谢病的诊断与管理：我们从这里何去何从？
Mol Genet Metab. 2022 May;136(1):4-21. doi: 10.1016/j.ymgme.2022.03.001. Epub 2022 Mar 9.