Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 96

1.

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
2.

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.

3.

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
4.

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
5.

Clinical and molecular characteristics of two transaldolase-deficient patients.

Tylki-Szymanska A, Wamelink MM, Stradomska TJ, Salomons GS, Taybert J, Dąbrowska-Leonik N, Rurarz M.

Eur J Pediatr. 2014 Dec;173(12):1679-82. doi: 10.1007/s00431-014-2261-2. Epub 2014 Feb 5.

6.

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.

7.

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
8.

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
9.

Nephrological abnormalities in patients with transaldolase deficiency.

Loeffen YG, Biebuyck N, Wamelink MM, Jakobs C, Mulder MF, Tylki-Szymańska A, Fung CW, Valayannopoulos V, Bökenkamp A.

Nephrol Dial Transplant. 2012 Aug;27(8):3224-7. doi: 10.1093/ndt/gfs061. Epub 2012 Apr 17.

PMID:
22510381
10.

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.

11.

Transaldolase deficiency: report of 12 new cases and further delineation of the phenotype.

Eyaid W, Al Harbi T, Anazi S, Wamelink MM, Jakobs C, Al Salammah M, Al Balwi M, Alfadhel M, Alkuraya FS.

J Inherit Metab Dis. 2013 Nov;36(6):997-1004. doi: 10.1007/s10545-012-9577-8. Epub 2013 Jan 12.

PMID:
23315216
12.

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
13.

The unexplored potential of the pentose phosphate pathway in health and disease.

Berry GT.

J Inherit Metab Dis. 2008 Dec;31(6):661. doi: 10.1007/s10545-008-9971-4. No abstract available.

PMID:
19015949
14.

The pathogenesis of transaldolase deficiency.

Perl A.

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

15.

Transaldolase deficiency caused by the homozygous p.R192C mutation of the TALDO1 gene in four Emirati patients with considerable phenotypic variability.

Al-Shamsi AM, Ben-Salem S, Hertecant J, Al-Jasmi F.

Eur J Pediatr. 2015 May;174(5):661-8. doi: 10.1007/s00431-014-2449-5. Epub 2014 Nov 12.

PMID:
25388407
16.

Long-Term Systematic Monitoring of Four Polish Transaldolase Deficient Patients.

Lipiński P, Pawłowska J, Stradomska T, Ciara E, Jankowska I, Socha P, Tylki-Szymańska A.

JIMD Rep. 2018 Jan 3. doi: 10.1007/8904_2017_83. [Epub ahead of print]

PMID:
29292491
17.

Oxidative stress, inflammation and carcinogenesis are controlled through the pentose phosphate pathway by transaldolase.

Perl A, Hanczko R, Telarico T, Oaks Z, Landas S.

Trends Mol Med. 2011 Jul;17(7):395-403. doi: 10.1016/j.molmed.2011.01.014. Epub 2011 Mar 2. Review.

18.

Detection of transaldolase deficiency by quantification of novel seven-carbon chain carbohydrate biomarkers in urine.

Wamelink MM, Smith DE, Jansen EE, Verhoeven NM, Struys EA, Jakobs C.

J Inherit Metab Dis. 2007 Oct;30(5):735-42. Epub 2007 Jun 27.

PMID:
17603756
19.

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.

20.

Diagnosis of dihydropyrimidinase deficiency in a Chinese boy with dihydropyrimidinuria.

Yeung CW, Yau MM, Ma CK, Siu TS, Tam S, Lam CW.

Hong Kong Med J. 2013 Jun;19(3):272-5. doi: 10.12809/hkmj133598.

Supplemental Content

Support Center