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相似文献

1
Congenital isolated folic acid malabsorption.先天性孤立性叶酸吸收不良
Arch Dis Child. 1987 Jan;62(1):78-80. doi: 10.1136/adc.62.1.78.
2
Congenital folate malabsorption.先天性叶酸吸收不良。
Eur J Pediatr. 1985 Mar;143(4):284-90. doi: 10.1007/BF00442302.
3
Letter: Congenital folate deficiency.信函：先天性叶酸缺乏症。
N Engl J Med. 1976 May 13;294(20):1128. doi: 10.1056/NEJM197605132942026.
4
Megaloblastic anemia due to folic acid deficiency after oral contraceptives.口服避孕药后因叶酸缺乏导致的巨幼细胞贫血
Haematologica. 1979 Apr;64(2):190-5.
5
[Megaloblastic anemia due to folic acid deficiency after partial gastrectomy--report of a case (author's transl)].胃部分切除术后叶酸缺乏所致巨幼细胞贫血——1例报告（作者译）
Rinsho Ketsueki. 1974 May;15(5):564-7.
6
Megaloblastic anaemia and disorders affecting utilisation of vitamin B12 and folate in childhood.巨幼细胞贫血及儿童期影响维生素B12和叶酸利用的疾病。
Clin Haematol. 1976 Oct;5(3):631-59.
7
[Thalassemia major manifested by megaloblastic anemia caused by folate deficiency].
Arch Fr Pediatr. 1983 Dec;40(10):799-801.
8
Dietary folic acid deficiency leading to megaloblastic anaemia in infancy. A case report.膳食叶酸缺乏导致婴儿巨幼细胞贫血。病例报告。
S Afr Med J. 1982 Oct 23;62(18):659-60.
9
[Manifest and latent folic acid deficiency in the aged (author's transl)].
Aktuelle Gerontol. 1977 Aug;7(8):415-9.
10
[Management, prevention and control of megaloblastic anemia, secondary to folic acid deficiency].
Nutr Hosp. 2006 Jan-Feb;21(1):113-9.

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Effects of Citrus Fruit Juices and Their Bioactive Components on Inflammation and Immunity: A Narrative Review.柑橘类果汁及其生物活性成分对炎症和免疫的影响：一项叙述性综述。
Front Immunol. 2021 Jun 24;12:712608. doi: 10.3389/fimmu.2021.712608. eCollection 2021.
2
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.
3
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.
4
Reversible severe combined immunodeficiency phenotype secondary to a mutation of the proton-coupled folate transporter.质子偶联叶酸转运体突变继发的可逆性重症联合免疫缺陷表型
Clin Immunol. 2009 Dec;133(3):287-94. doi: 10.1016/j.clim.2009.08.006. Epub 2009 Sep 9.
5
Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system.脑脊液中的叶酸缺乏与中枢神经系统中叶酸结合蛋白的缺陷有关。
J Neurol Neurosurg Psychiatry. 1994 Feb;57(2):223-6. doi: 10.1136/jnnp.57.2.223.

本文引用的文献

1
Microbiologic determination of folic acid derivatives in blood.
Blood. 1962 Nov;20:609-16.
2
Therapy of congenital folate malabsorption.先天性叶酸吸收不良的治疗
J Pediatr. 1981 Jan;98(1):76-9. doi: 10.1016/s0022-3476(81)80541-0.
3
Congenital isolated defect of folic acid absorption.
J Pediatr. 1973 Mar;82(3):450-5. doi: 10.1016/s0022-3476(73)80119-2.
4
Congenital folate malabsorption.先天性叶酸吸收不良。
Eur J Pediatr. 1985 Mar;143(4):284-90. doi: 10.1007/BF00442302.
5
Depressed cell-mediated immunity in megaloblastic anemia due to folic acid deficiency.
Am J Clin Nutr. 1975 Mar;28(3):225-32. doi: 10.1093/ajcn/28.3.225.

先天性孤立性叶酸吸收不良

Congenital isolated folic acid malabsorption.

作者信息

Urbach J, Abrahamov A, Grossowicz N

出版信息

Arch Dis Child. 1987 Jan;62(1):78-80. doi: 10.1136/adc.62.1.78.

DOI:10.1136/adc.62.1.78
PMID:3813642
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1778153/
Abstract

We report a case of congenital isolated malabsorption of folic acid, the first in a boy. Only seven previous cases have been reported, and we discuss two aspects--namely, the tendency to infection, with evidence of impairment of both cellular and humoral immunity, and the absence of neurological disturbances.

摘要

我们报告了一例先天性孤立性叶酸吸收不良病例，患儿为男性，此为首例。此前仅报道过七例，我们讨论两个方面，即感染倾向，有细胞免疫和体液免疫受损的证据，以及无神经功能障碍。