Transaldolase deficiency

Common Name(s)

Transaldolase deficiency

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Transaldolase deficiency" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Transaldolase deficiency" returned 4 free, full-text research articles on human participants. First 3 results:

Mitochondrial involvement and erythronic acid as a novel biomarker in transaldolase deficiency.
 

Author(s): Udo F H Engelke, Fokje S M Zijlstra, Fanny Mochel, Vassili Valayannopoulos, Daniel Rabier, Leo A J Kluijtmans, AndrĂ¡s Perl, Nanda M Verhoeven-Duif, Pascale de Lonlay, Mirjam M C Wamelink, Cornelis Jakobs, Eva Morava, Ron A Wevers

Journal: Biochim. Biophys. Acta. 2010 Nov;1802(11):1028-35.

 

Sedoheptulose, arabitol, ribitol, and erythritol have been identified as key diagnostic metabolites in TALDO deficiency.

Last Updated: 20 Sep 2010

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Deletion of Ser-171 causes inactivation, proteasome-mediated degradation and complete deficiency of human transaldolase.
 

Author(s): Craig E Grossman, Brian Niland, Christina Stancato, Nanda M Verhoeven, Marjo S Van Der Knaap, Cornelis Jakobs, Lawrence M Brown, Sandor Vajda, Katalin Banki, Andras Perl

Journal: Biochem. J.. 2004 Sep;382(Pt 2):725-31.

 

Homozygous deletion of three nucleotides coding for Ser-171 (S171) of TAL-H (human transaldolase) has been identified in a female patient with liver cirrhosis. Accumulation of sedoheptulose 7-phosphate raised the possibility of TAL (transaldolase) deficiency in this patient. In the ...

Last Updated: 19 Aug 2004

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Profiling of pentose phosphate pathway intermediates in blood spots by tandem mass spectrometry: application to transaldolase deficiency.
 

Author(s): Jojanneke H J Huck, Eduard A Struys, Nanda M Verhoeven, Cornelis Jakobs, Marjo S van der Knaap

Journal: Clin. Chem.. 2003 Aug;49(8):1375-80.

 

Recently, several patients with abnormal polyol profiles in body fluids have been reported, but the origins of these polyols are unknown. We hypothesized that they are derived from sugar phosphate intermediates of the pentose phosphate pathway (PPP), and we developed a semiquantitative ...

Last Updated: 25 Jul 2003

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Transaldolase deficiency" returned 1 free, full-text review articles on human participants. First 3 results:

The pathogenesis of transaldolase deficiency.
 

Author(s): Andras Perl

Journal: IUBMB Life. 2007 Jun;59(6):365-73.

 

The signaling networks that mediate cell growth, differentiation, and survival are dependent on complex metabolic and redox pathways. Metabolism of glucose through the pentose phosphate pathway (PPP) fulfills two unique functions: formation of ribose 5-phosphate for the synthesis ...

Last Updated: 6 Jul 2007

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Clinical Trial Information This information is provided by ClinicalTrials.gov

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