Suppr超能文献

相似文献

1
A treatable neurometabolic disorder: glutaric aciduria type 1.
Case Rep Pediatr. 2014;2014:256356. doi: 10.1155/2014/256356. Epub 2014 Jan 27.
2
Glutaric acidemia type 1.
Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088.
4
Getting the diagnostic clue, role of MRI in the diagnosis of type 1 Glutaric aciduria in resource-limited settings.
Radiol Case Rep. 2024 Jun 16;19(9):3701-3704. doi: 10.1016/j.radcr.2024.05.040. eCollection 2024 Sep.
5
Pediatric Glutaric Aciduria Type 1: 14 Cases, Diagnosis and Management.
Ann Indian Acad Neurol. 2021 Jan-Feb;24(1):22-26. doi: 10.4103/aian.AIAN_42_20. Epub 2020 Dec 28.
6
Adult-onset glutaric aciduria type I: rare presentation of a treatable disorder.
Neurogenetics. 2020 Jul;21(3):179-186. doi: 10.1007/s10048-020-00610-9. Epub 2020 Apr 18.
7
Glutaric acidemia type 1: outcomes before and after expanded newborn screening.
Mol Genet Metab. 2012 Aug;106(4):430-8. doi: 10.1016/j.ymgme.2012.05.024. Epub 2012 Jun 9.
9
Glutaric Aciduria Type I: A Rare Metabolic Disorder Mimicking as Choreoathetoid Cerebral Palsy.
J Pediatr Neurosci. 2017 Jan-Mar;12(1):85-86. doi: 10.4103/jpn.JPN_165_16.
10
Clinical and molecular investigation in Chinese patients with glutaric aciduria type I.
Clin Chim Acta. 2016 Jan 30;453:75-9. doi: 10.1016/j.cca.2015.12.003. Epub 2015 Dec 4.

引用本文的文献

1
Metabolomics of neurological disorders in India.
Anal Sci Adv. 2021 Nov 28;2(11-12):594-610. doi: 10.1002/ansa.202000169. eCollection 2021 Dec.
2
Effects of a Tailored Pediatric Rehabilitation Protocol on Children With Neurometabolic Disorder: A Case Report.
Cureus. 2024 Mar 28;16(3):e57115. doi: 10.7759/cureus.57115. eCollection 2024 Mar.
4
A Case of Mistaken Identity: Glutaric Aciduria Type I Masquerading as Postmeningitic Hydrocephalus.
J Clin Imaging Sci. 2018 Nov 15;8:50. doi: 10.4103/jcis.JCIS_56_18. eCollection 2018.
5
A Tale of Treatable Infantile Neuroregression and Diagnostic Dilemma with Glutaric Aciduria Type I.
J Pediatr Neurosci. 2017 Oct-Dec;12(4):356-359. doi: 10.4103/jpn.JPN_35_17.
6
Glutaric Acidemia Type 1: A Case of Infantile Stroke.
JIMD Rep. 2018;38:7-12. doi: 10.1007/8904_2017_26. Epub 2017 Apr 15.
7
Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision.
J Inherit Metab Dis. 2017 Jan;40(1):75-101. doi: 10.1007/s10545-016-9999-9. Epub 2016 Nov 16.
8
Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review.
Forensic Sci Med Pathol. 2015 Sep;11(3):405-15. doi: 10.1007/s12024-015-9698-0. Epub 2015 Jul 29.

本文引用的文献

1
Glutaric aciduria type I: from clinical, biochemical and molecular diversity to successful therapy.
J Inherit Metab Dis. 1999 Jun;22(4):381-91. doi: 10.1023/a:1005543904484.
2
Diagnosis and management of glutaric aciduria type I.
J Inherit Metab Dis. 1998 Jun;21(4):326-40. doi: 10.1023/a:1005390105171.
4
Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life.
Acta Paediatr. 1997 Oct;86(10):1144-7. doi: 10.1111/j.1651-2227.1997.tb14827.x.
5
Two cases of glutaric aciduria type 1: clinical and neuropathological findings.
J Neurol Sci. 1994 May;123(1-2):38-43. doi: 10.1016/0022-510x(94)90201-1.
7
Antenatal diagnosis of glutaric acidemia.
Am J Hum Genet. 1980 Sep;32(5):695-9.
8
A case of glutaric acidemia type I: effect of riboflavin and carnitine.
J Pediatr. 1988 Jan;112(1):62-5. doi: 10.1016/s0022-3476(88)80123-9.

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验