高肌氨酸血症伴颅缝早闭-并指综合征
Hypersarcosinemia with craniostenosis-syndactylism syndrome.
作者信息
Minami R, Olek K, Wardenbach P
出版信息
Humangenetik. 1975 Jun 19;28(2):167-71. doi: 10.1007/BF00735751.
PMID:168149
Abstract
Hypersarcosinemia with craniostenosis-syndactylism syndrome. After a sarcosine loading the sarcosine-glycine ratios seem to be a more reliable criterion to distinguish different genotypes than the sarcosine tolerance curves.
摘要
伴有颅骨狭窄-并指综合征的高肌氨酸血症。给予肌氨酸负荷后，与肌氨酸耐受曲线相比，肌氨酸-甘氨酸比值似乎是区分不同基因型更可靠的标准。
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