范科尼-比克综合征采用生玉米淀粉治疗后的追赶生长 - Suppr

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超能文献

Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch.

作者信息

Lee P J, Van't Hoff W G, Leonard J V

机构信息

Medical Unit, Institute of Child Health, London, UK.

出版信息

J Inherit Metab Dis. 1995;18(2):153-6. doi: 10.1007/BF00711753.

DOI:10.1007/BF00711753

PMID:7564233

Abstract

摘要

相似文献

Catch-up growth in Fanconi-Bickel syndrome with uncooked cornstarch.范科尼-比克综合征采用生玉米淀粉治疗后的追赶生长

J Inherit Metab Dis. 1995;18(2):153-6. doi: 10.1007/BF00711753.

Fanconi-Bickel syndrome.范科尼-比克综合征

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Fanconi-Bickel syndrome presenting in neonatal screening for galactosaemia.范科尼-比克综合征在半乳糖血症新生儿筛查中出现。

J Inherit Metab Dis. 1997 Aug;20(4):607-8. doi: 10.1023/a:1005375629820.

Special feature: pathological case of the month. Glycogen storage disease with renal tubular dysfunction (type XI, Fanconi-Bickel syndrome).特色专题：月度病理病例。伴有肾小管功能障碍的糖原贮积病（XI型，范可尼-比克综合征）。

Arch Pediatr Adolesc Med. 2000 Nov;154(11):1165-6. doi: 10.1001/archpedi.154.11.1165.

Cornstarch therapy in a patient with type III glycogen storage disease.III型糖原贮积病患者的玉米淀粉治疗

J Pediatr Gastroenterol Nutr. 1987 Jul-Aug;6(4):631-4. doi: 10.1097/00005176-198707000-00024.

Fanconi-Bickel syndrome.范科尼-比克综合征

Pediatr Nephrol. 1987 Jul;1(3):509-18. doi: 10.1007/BF00849262.

[The Fanconi-Bickel syndrome].[范可尼-比克综合征]

Bol Med Hosp Infant Mex. 1991 Apr;48(4):255-60.

[The Fanconi-Bickel syndrome: one more case].[范科尼-比克尔综合征：又一例]

Minerva Pediatr. 1992 Jun;44(6):313-8.

Fanconi-Bickel syndrome--the original patient and his natural history, historical steps leading to the primary defect, and a review of the literature.范科尼-比克综合征——首例患者及其自然病史、导致原发性缺陷的历史进程以及文献综述

Eur J Pediatr. 1998 Oct;157(10):783-97. doi: 10.1007/s004310050937.

The Fanconi-Bickel syndrome: a case of neonatal onset.

J Perinatol. 2004 May;24(5):322-3. doi: 10.1038/sj.jp.7211092.

引用本文的文献

Glycogen storage diseases: An update.糖原贮积病：更新。

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Acquired growth hormone deficiency in Fanconi-Bickel syndrome.范可尼-比克尔综合征中的获得性生长激素缺乏症。

BMJ Case Rep. 2021 Nov 2;14(11):e246212. doi: 10.1136/bcr-2021-246212.

Fanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature.一名患有巨细胞病毒感染婴儿的范科尼-比克综合征：病例报告及文献复习

World J Clin Cases. 2020 Nov 6;8(21):5467-5473. doi: 10.12998/wjcc.v8.i21.5467.

Fanconi-Bickel Syndrome: A Review of the Mechanisms That Lead to Dysglycaemia.范可尼-比克尔综合征：导致血糖异常的机制综述。

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Fanconi-Bickel syndrome - mutation in SLC2A2 gene.范可尼-比克综合征——SLC2A2基因的突变

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Phenotypic variability in patients with fanconi-bickel syndrome with identical mutations.患有相同突变的范可尼-比克综合征患者的表型变异性。

JIMD Rep. 2015;15:95-104. doi: 10.1007/8904_2014_303. Epub 2014 Apr 10.

Fanconi-Bickel syndrome as an example of marked allelic heterogeneity.以范科尼-比克综合征为例说明显著的等位基因异质性。

World J Nephrol. 2012 Jun 6;1(3):63-8. doi: 10.5527/wjn.v1.i3.63.

Fanconi-Bickel syndrome.范可尼-比克尔综合征。

Indian J Pediatr. 2012 Jan;79(1):112-4. doi: 10.1007/s12098-011-0373-5. Epub 2011 Feb 15.

Glycogen storage diseases: new perspectives.糖原贮积病：新观点

World J Gastroenterol. 2007 May 14;13(18):2541-53. doi: 10.3748/wjg.v13.i18.2541.

本文引用的文献

[Chronic aminoaciduria (amino acid diabetes or nephrotic-glucosuric dwarfism) in glycogen storage and cystine disease].[糖原累积病和胱氨酸病中的慢性氨基酸尿症（氨基酸糖尿病或肾性糖尿侏儒症）]

Helv Paediatr Acta. 1949 Nov;4(5):359-96.

Fanconi's syndrome with hepatorenal glycogenosis associated with phosphorylase b kinase deficiency.范科尼综合征伴肝肾糖原贮积症，与磷酸化酶b激酶缺乏相关。

Am J Dis Child. 1993 Sep;147(9):957-9. doi: 10.1001/archpedi.1993.02160330047016.

Cornstarch therapy in type I glycogen-storage disease.I型糖原贮积病的玉米淀粉治疗法。

N Engl J Med. 1984 Jan 19;310(3):171-5. doi: 10.1056/NEJM198401193100306.

Defective galactose oxidation in a patient with glycogen storage disease and Fanconi syndrome.一名糖原贮积病和范科尼综合征患者存在半乳糖氧化缺陷。

Pediatr Res. 1983 Feb;17(2):157-61. doi: 10.1203/00006450-198302000-00015.

The dietary treatment of children with type I glycogen storage disease with slow release carbohydrate.I型糖原贮积病患儿采用缓释碳水化合物的饮食治疗

Pediatr Res. 1984 Sep;18(9):879-81. doi: 10.1203/00006450-198409000-00015.

Familial Fanconi syndrome with malabsorption and galactose intolerance, normal kinase and transferase activity. A report on two siblings.伴有吸收不良和半乳糖不耐受的家族性范科尼综合征，激酶和转移酶活性正常。关于两名兄弟姐妹的报告。

Acta Paediatr Scand. 1981 Jul;70(4):527-33. doi: 10.1111/j.1651-2227.1981.tb05735.x.

Fanconi-Bickel syndrome.范科尼-比克综合征

Pediatr Nephrol. 1987 Jul;1(3):509-18. doi: 10.1007/BF00849262.

Glycogen storage disease, Fanconi nephropathy, abnormal galactose metabolism and mitochondrial myopathy.糖原贮积病、范科尼肾病、半乳糖代谢异常和线粒体肌病。

Eur J Pediatr. 1989 Oct;149(1):48-51. doi: 10.1007/BF02024334.

Amelioration of proximal renal tubular dysfunction in type I glycogen storage disease with dietary therapy.饮食疗法改善Ⅰ型糖原贮积病的近端肾小管功能障碍。

N Engl J Med. 1990 Aug 30;323(9):590-3. doi: 10.1056/NEJM199008303230907.

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