成人型1型戊二酸血症 - Suppr

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超能文献

Glutaric aciduria type 1 in adulthood.

作者信息

Prevett M C, Howard R S, Dalton R N, Olpin S E

出版信息

J Neurol Neurosurg Psychiatry. 1996 Mar;60(3):352-3. doi: 10.1136/jnnp.60.3.352.

DOI:10.1136/jnnp.60.3.352

PMID:8609526

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1073872/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/27e6/1073872/071dfcf046f1/jnnpsyc00015-0102-a.jpg

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Two Uneventful Pregnancies in a Woman with Glutaric Aciduria Type 1.一名患有1型戊二酸尿症的女性经历的两次平安无事的怀孕。

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Extrastriatal changes in patients with late-onset glutaric aciduria type I highlight the risk of long-term neurotoxicity.晚发型I型戊二酸血症患者的纹状体外改变凸显了长期神经毒性的风险。

Orphanet J Rare Dis. 2017 Apr 24;12(1):77. doi: 10.1186/s13023-017-0612-6.

Rare Late-Onset Presentation of Glutaric Aciduria Type I in a 16-Year-Old Woman with a Novel GCDH Mutation.一名16岁女性因新型GCDH突变导致的罕见迟发性I型戊二酸血症

JIMD Rep. 2015;18:85-92. doi: 10.1007/8904_2014_353. Epub 2014 Sep 26.

本文引用的文献

Dystonia and dyskinesia in glutaric aciduria type I: clinical heterogeneity and therapeutic considerations.I型戊二酸血症中的肌张力障碍和运动障碍：临床异质性及治疗考量

Mov Disord. 1994 Jan;9(1):22-30. doi: 10.1002/mds.870090105.

Dystonia as the major manifestation of Leigh's syndrome.

Mov Disord. 1994 Nov;9(6):642-9. doi: 10.1002/mds.870090610.

Phenotypic variability in glutaric aciduria type I: Report of fourteen cases in five Canadian Indian kindreds.I型戊二酸血症的表型变异性：加拿大五个印第安家族中14例病例报告。

J Pediatr. 1991 Jan;118(1):52-8. doi: 10.1016/s0022-3476(05)81843-8.

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