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Results: 1 to 20 of 171

Related Citations for PubMed (Select 11283793)

1.

Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.

Verhoeven NM, Huck JH, Roos B, Struys EA, Salomons GS, Douwes AC, van der Knaap MS, Jakobs C.

Am J Hum Genet. 2001 May;68(5):1086-92. Epub 2001 Mar 27.

2.

Transaldolase deficiency in a two-year-old boy with cirrhosis.

Wamelink MM, Struys EA, Salomons GS, Fowler D, Jakobs C, Clayton PT.

Mol Genet Metab. 2008 Jun;94(2):255-8. doi: 10.1016/j.ymgme.2008.01.011. Epub 2008 Mar 10.

PMID:
18331807
3.

Ribose-5-phosphate isomerase deficiency: new inborn error in the pentose phosphate pathway associated with a slowly progressive leukoencephalopathy.

Huck JH, Verhoeven NM, Struys EA, Salomons GS, Jakobs C, van der Knaap MS.

Am J Hum Genet. 2004 Apr;74(4):745-51. Epub 2004 Feb 25.

4.

Novel heterozygous mutations in TALDO1 gene causing transaldolase deficiency and early infantile liver failure.

Balasubramaniam S, Wamelink MM, Ngu LH, Talib A, Salomons GS, Jakobs C, Keng WT.

J Pediatr Gastroenterol Nutr. 2011 Jan;52(1):113-6. doi: 10.1097/MPG.0b013e3181f50388. No abstract available.

PMID:
21119539
5.

A newborn with severe liver failure, cardiomyopathy and transaldolase deficiency.

Verhoeven NM, Wallot M, Huck JH, Dirsch O, Ballauf A, Neudorf U, Salomons GS, van der Knaap MS, Voit T, Jakobs C.

J Inherit Metab Dis. 2005;28(2):169-79.

PMID:
15877206
6.

Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism.

Wamelink MM, Struys EA, Huck JH, Roos B, van der Knaap MS, Jakobs C, Verhoeven NM.

J Chromatogr B Analyt Technol Biomed Life Sci. 2005 Aug 25;823(1):18-25. Epub 2005 Jan 23.

PMID:
16055050
7.

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

Grossman CE, Niland B, Stancato C, Verhoeven NM, Van Der Knaap MS, Jakobs C, Brown LM, Vajda S, Banki K, Perl A.

Biochem J. 2004 Sep 1;382(Pt 2):725-31.

8.

Transaldolase deficiency: a new cause of hydrops fetalis and neonatal multi-organ disease.

Valayannopoulos V, Verhoeven NM, Mention K, Salomons GS, Sommelet D, Gonzales M, Touati G, de Lonlay P, Jakobs C, Saudubray JM.

J Pediatr. 2006 Nov;149(5):713-7.

PMID:
17095351
9.

Urinary excretion of pentose phosphate pathway-associated polyols in early postnatal life.

Koy A, Waldhaus A, Hammen HW, Wendel U, Mayatepek E, Schadewaldt P.

Neonatology. 2009;95(3):256-61. doi: 10.1159/000167789. Epub 2008 Nov 5.

PMID:
18987485
10.

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

Huck JH, Struys EA, Verhoeven NM, Jakobs C, van der Knaap MS.

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

12.
13.

Transaldolase of Methanocaldococcus jannaschii.

Soderberg T, Alver RC.

Archaea. 2004 Oct;1(4):255-62.

14.

The biochemistry, metabolism and inherited defects of the pentose phosphate pathway: a review.

Wamelink MM, Struys EA, Jakobs C.

J Inherit Metab Dis. 2008 Dec;31(6):703-17. doi: 10.1007/s10545-008-1015-6. Epub 2008 Nov 8. Review.

PMID:
18987987
15.
16.

[A newly discovered metabolic diseases due to defects in the pentose pathway].

Tylki-Szymańska A, Stradomska TJ.

Postepy Biochem. 2011;57(2):168-71. Review. Polish.

PMID:
21913417
17.

Transaldolase deficiency in two new patients with a relative mild phenotype.

Tylki-Szymańska A, Stradomska TJ, Wamelink MM, Salomons GS, Taybert J, Pawłowska J, Jakobs C.

Mol Genet Metab. 2009 May;97(1):15-7. doi: 10.1016/j.ymgme.2009.01.016. Epub 2009 Feb 10.

PMID:
19299175
18.

Transaldolase deficiency influences the pentose phosphate pathway, mitochondrial homoeostasis and apoptosis signal processing.

Qian Y, Banerjee S, Grossman CE, Amidon W, Nagy G, Barcza M, Niland B, Karp DR, Middleton FA, Banki K, Perl A.

Biochem J. 2008 Oct 1;415(1):123-34. doi: 10.1042/BJ20080722.

19.

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

Engelke UF, Zijlstra FS, Mochel F, Valayannopoulos V, Rabier D, Kluijtmans LA, Perl A, Verhoeven-Duif NM, de Lonlay P, Wamelink MM, Jakobs C, Morava E, Wevers RA.

Biochim Biophys Acta. 2010 Nov;1802(11):1028-35. doi: 10.1016/j.bbadis.2010.06.007. Epub 2010 Jun 18.

20.

Effect of transketolase modifications on carbon flow to the purine-nucleotide pathway in Corynebacterium ammoniagenes.

Kamada N, Yasuhara A, Takano Y, Nakano T, Ikeda M.

Appl Microbiol Biotechnol. 2001 Sep;56(5-6):710-7.

PMID:
11601619
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