一名女性患者的β-甘露糖苷贮积症和乙醇胺尿症。 - Suppr

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Beta-mannosidosis and ethanolaminuria in a female patient.

作者信息

Wijburg H, de Jong J, Wevers R, Bakkeren J, Trijbels F, Sengers R

出版信息

Eur J Pediatr. 1992 Apr;151(4):311. doi: 10.1007/BF02072238.

DOI:10.1007/BF02072238

PMID:1499588

Abstract

摘要

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本文引用的文献

beta-Mannosidase in human leukocytes and fibroblasts.

J Inherit Metab Dis. 1984;7(4):155-6. doi: 10.1007/BF01805598.

Thin-layer chromatography of oligosaccharides in urine as a rapid indication for the diagnosis of lysosomal acid maltase deficiency (Pompe's disease).

Clin Chim Acta. 1983 Oct 31;134(1-2):221-7. doi: 10.1016/0009-8981(83)90200-0.

Ethanolaminuria: a non-specific laboratory finding in the seriously ill infant.乙醇胺尿症：重症婴儿的一项非特异性实验室检查结果。

Clin Biochem. 1988 Oct;21(5):297-300. doi: 10.1016/s0009-9120(88)80084-5.

Beta-mannosidosis in two brothers with hearing loss.

J Inherit Metab Dis. 1988;11 Suppl 2:255-8. doi: 10.1007/BF01804251.

Human beta-mannosidase deficiency.人类β-甘露糖苷酶缺乏症。

N Engl J Med. 1986 Nov 6;315(19):1201-5. doi: 10.1056/NEJM198611063151906.

Ethanolaminosis. A newly recognized, generalized storage disease with cardiomegaly, cerebral dysfunction and early death.乙醇胺病。一种新发现的全身性贮积病，伴有心脏肥大、脑功能障碍和早期死亡。

Eur J Pediatr. 1977 Aug 23;126(1-2):61-75. doi: 10.1007/BF00443124.

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