LIU Qi, CHEN Yi-Ping.
Glutaric aciduria type: a report of 2 cases[J]. Chinese Journal of Contemporary Pediatrics. 2014, 16(1): 87-90 https://doi.org/10.7499/j.issn.1008-8830.2014.01.020
{{custom_sec.title}}
{{custom_sec.title}}
{{custom_sec.content}}
References
[1] Funk CB, Prasad AN, Frosk P, et al. Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort[J]. Brain, 2005, 128(Pt 4): 711-722. [2] 刘丽英, 邹丽萍, 王旭, 等.戊二酸尿症I型11例诊断及治疗分析[J]. 临床儿科杂志, 2009, 27(12): 1115-1117. [3] Martinez Granero MA, Garcia Perez A, Martinez-Pardo M, et al. Macrocephaly the first manifestation of glutaric aciduria type I: the importance of early diagnosis[J]. Neurologia, 2005, 20(5): 255-260. [4] Viau K, Ernst SL, Vanzo RJ, et al. Glutaric acidemia type 1: outcomes before and after expanded newborn screening[J]. Mol Genet Metab, 2012, 106(4): 430-438. [5] Crombez EA, Cederbaum SD, Spector E, et al. Maternal glutaric acidemia, type I identified by newborn screening[J]. Mol Genet Metab, 2008, 94(1): 132-134. [6] Mushimoto Y, Fukuda S, Hasegawa Y, et al. Clinical and molecular investigation of 19 Japanese cases of glutaric acidemia type 1[J]. Mol Genet Metab, 2011, 102(3): 343-348. [7] Strauss KA, Puffenberger EG, Robinson DL, et al. Type I glutaric aciduria, part 1: natural history of 77 patients[J]. Am J Med Genet C Semin Med Genet, 2003, 121C(1): 38-52. [8] Kolker S, Christensen E, Leonard JV, et al. Diagnosis and management of glutaric aciduria type I—revised recommendations[J]. J Inherit Metab Dis, 2011, 34(3): 677-694.