Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification.

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作者信息

Lanzkowsky P, Erlandson M E, Bezan A I

出版信息

Blood. 1969 Oct;34(4):452-65.

PMID:4980683

Abstract

摘要

相似文献

Isolated defect of folic acid absorption associated with mental retardation and cerebral calcification.

Blood. 1969 Oct;34(4):452-65.

Congenital folate malabsorption.先天性叶酸吸收不良。

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Latent coeliac disease in a child with epilepsy, cerebral calcifications, drug-induced systemic lupus erythematosus and intestinal folic acid malabsorption associated with impairment of folic acid transport across the blood-brain barrier.一名患有癫痫、脑钙化、药物性系统性红斑狼疮及肠道叶酸吸收不良且伴有叶酸跨血脑屏障转运受损的儿童的潜在性腹腔疾病。

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Malabsorption of folic acid following partial gastrectomy.胃部分切除术后叶酸吸收不良。

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Megaloblastic anemia and mental retardation associated with hyperfolic-acidemia: probably due to N5 methyltetrahydrofolate transferase deficiency.巨幼细胞贫血和智力发育迟缓与高叶酸血症相关：可能由于N5甲基四氢叶酸转移酶缺乏所致。

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[Role of folic acid in the etiology of nervous system diseases].[叶酸在神经系统疾病病因学中的作用]

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Congenital malabsorption of folate.

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[Congenital absence of the stomach].[先天性无胃]

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Intestinal malabsorption in folate-deficient alcoholics.叶酸缺乏的酗酒者的肠道吸收不良。

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Folic acid deficiency and hypotonia.叶酸缺乏与肌张力减退。

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引用本文的文献

The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption.质子偶联叶酸转运体（PCFT-SLC46A1）与婴儿全身性和脑叶酸缺乏综合征：遗传性叶酸吸收不良。

Mol Aspects Med. 2017 Feb;53:57-72. doi: 10.1016/j.mam.2016.09.002. Epub 2016 Sep 21.

CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of Congenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT) Deficiency.脑脊液5-甲基四氢叶酸连续监测以指导质子偶联叶酸转运体（PCFT）缺乏所致先天性叶酸吸收不良的治疗。

JIMD Rep. 2015;24:91-6. doi: 10.1007/8904_2015_445. Epub 2015 May 26.

Properties of the Arg376 residue of the proton-coupled folate transporter (PCFT-SLC46A1) and a glutamine mutant causing hereditary folate malabsorption.质子偶联叶酸转运蛋白（PCFT-SLC46A1）Arg376 残基的性质及导致遗传性叶酸吸收不良的谷氨酰胺突变体。

Am J Physiol Cell Physiol. 2010 Nov;299(5):C1153-61. doi: 10.1152/ajpcell.00113.2010. Epub 2010 Aug 4.

Membrane transporters and folate homeostasis: intestinal absorption and transport into systemic compartments and tissues.膜转运蛋白与叶酸稳态：肠道吸收以及向全身各腔室和组织的转运

Expert Rev Mol Med. 2009 Jan 28;11:e4. doi: 10.1017/S1462399409000969.

Micronutrient status, cognition and behavioral problems in childhood.儿童期的微量营养素状况、认知与行为问题

Eur J Nutr. 2008 Aug;47 Suppl 3:38-50. doi: 10.1007/s00394-008-3004-9.

Sulfur containing amino acids and human disease.含硫氨基酸与人类疾病。

Biomed Pharmacother. 2004 Jan;58(1):47-55. doi: 10.1016/j.biopha.2003.11.005.

Partial purification and characterization of a folate-binding protein from human choroid plexus.人脉络丛中叶酸结合蛋白的部分纯化及特性分析

Neurochem Res. 1981 Mar;6(3):333-41. doi: 10.1007/BF00964048.

Malabsorption of dietary folate (Pteroylpolyglutamates) in adult coeliac disease and dermatitis herpetiformis.成人乳糜泻和疱疹样皮炎中膳食叶酸（蝶酰多聚谷氨酸）的吸收不良。

Br Med J. 1970 Oct 10;4(5727):85-9. doi: 10.1136/bmj.4.5727.85.

Folate and vitamin B12 in epilepsy.癫痫中的叶酸和维生素B12

Br Med J. 1970 Sep 5;3(5722):585-6. doi: 10.1136/bmj.3.5722.585-c.

Transport characteristics of folates in cerebrospinal fluid; a study utilizing doubly labeled 5-methyltetrahydrofolate and 5-formyltetrahydrofolate.脑脊液中叶酸的转运特性；一项利用双标记的5-甲基四氢叶酸和5-甲酰四氢叶酸的研究。

J Clin Invest. 1971 Jun;50(6):1301-8. doi: 10.1172/JCI106609.

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