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Ⅰ型戊二酸尿症一例 被引量:7

Glutaric aciduria type Ⅰ:report of a case
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出处 《中华儿科杂志》 CAS CSCD 北大核心 2004年第7期557-557,共1页 Chinese Journal of Pediatrics
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  • 1Seymour CA, Thomason MJ, Chalmers RA, et al. Newborn screening for inborn errors of metabolism: a systematic review. Health Technol Assess, 1997, 1:i-iv, 1-95. 被引量:1
  • 2Hoffmann GF, Zschocke J. Glutaric aciduria type Ⅰ: from clinical, biochemical and molecular diversity to successful therapy. J Inherit Metab Dis, 1999, 22:381-391. 被引量:1
  • 3Hoffman GF, Athanassopoulos S, Burlina AB, et al. clinical course, early diagnosis, treatment, and prevention of disease in glutaryl-CoA dehydrogenase deficiency. Neuropediatrics, 1996, 27:115-123. 被引量:1
  • 4Kafil-Hussain NA, Monavari A, Bowell R, et al. Ocular findings in glutaric aciduria type 1. J Pediatr Ophthalmol Strabismus, 2000, 37:289-293. 被引量:1
  • 5Brismar J, Ozand PT. CT and MR of the brain in glutaric academia type Ⅰ: a review of 59 published cases and a report of 5 new patients. Am J Neuroradiol, 1995, 16:675-683. 被引量:1
  • 6Baric I, Zschocke J, Christensen E, et al. Diagnosis and management of glutaric aciduria type Ⅰ. J Inherit Metab Dis, 1998, 21:326-340. 被引量:1

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