Abstract:
:A new variant of glycogen storage disease (GSD) Type 1, with clinical symptoms and laboratory findings consistent with those of glucose-6-phosphatase (G6Pase) deficiency, is described. Assay of G6Pase in liver from the patient immediately after biopsy by the method of Nordlie and Arion gave low activity (0.8 mumol/min per g liver) in the absence of detergent, but was normal (10.2 mumol/min per g liver) after addition of detergent. Liver stored for a day at -25 degrees C had normal activity (3.4 mumol/min per g liver) without detergent. In patients with GSD Type la, G6Pase activity was very low both with and without detergent. These findings suggest a defect in glucose-6-phosphate transport in the microsomal membrane of the patient's liver. The integrity of microsomal membrane was destroyed by storage at -25 degrees C, when activity of G6 ase in the patient's liver could be demonstrated. This may be the first example of a disorder involving the transport system of an intracellular membrane.
journal_name
J Inherit Metab Disjournal_title
Journal of inherited metabolic diseaseauthors
Igarashi Y,Otomo H,Narisawa K,Tada Kdoi
10.1007/BF01801717subject
Has Abstractpub_date
1980-01-01 00:00:00pages
45-9issue
3eissn
0141-8955issn
1573-2665journal_volume
2pub_type
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
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更新日期:2007-06-01 00:00:00
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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journal_title:Journal of inherited metabolic disease
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更新日期:2008-12-01 00:00:00
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journal_title:Journal of inherited metabolic disease
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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更新日期:2018-07-13 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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更新日期:2020-07-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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更新日期:1991-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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更新日期:1990-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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更新日期:2018-05-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF00711323
更新日期:1993-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/BF01800067
更新日期:1987-01-01 00:00:00
abstract::This review surveys the potential application of gene therapy to metabolic diseases. Proof of principle has been achieved in the treatment of two inherited immunodeficiency conditions. A significant safety issue has also been observed. Several strategies are being experimentally tested for a number of metabolic diseas...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
doi:10.1007/s10545-006-0270-7
更新日期:2006-04-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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更新日期:2000-09-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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更新日期:1993-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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更新日期:1995-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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更新日期:2015-09-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
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更新日期:1989-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-010-9255-7
更新日期:2011-04-01 00:00:00
abstract::A striking elevation of plasma chitotriosidase activity, greater than 150 times the normal median value, was found in two galactosialidosis patients. Furthermore, increased plasma chitotriosidase activity, 10-53 times the normal median value, was also observed in fucosidosis, glycogen storage disease type IV, Alagille...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/b:boli.0000043025.17721.fc
更新日期:2004-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章,评审
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更新日期:1996-01-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/a:1022837416232
更新日期:2002-12-01 00:00:00
abstract:INTRODUCTION:Alpha-1,3-glucosyltransferase congenital disorder of glycosylation (ALG6-CDG) is a congenital disorder of glycosylation. The original patients were described with hypotonia, developmental disability, epilepsy, and increased bleeding tendency. METHODS:Based on Euroglycan database registration, we approache...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1007/s10545-016-9945-x
更新日期:2016-09-01 00:00:00
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journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1023/b:boli.0000005603.04633.21
更新日期:2003-01-01 00:00:00
abstract::There is paucity of literature on dietary treatment in glycogen storage disease (GSD) type IV and formal guidelines are not available. Traditionally, liver transplantation was considered the only treatment option for GSD IV. In light of the success of dietary treatment for the other hepatic forms of GSD, we have initi...
journal_title:Journal of inherited metabolic disease
pub_type: 杂志文章
doi:10.1002/jimd.12339
更新日期:2020-12-17 00:00:00