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Items: 1 to 20 of 80

1.

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.

2.

[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
3.

The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency.

Wamelink MM, Grüning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M.

J Mol Med (Berl). 2010 Sep;88(9):931-9. doi: 10.1007/s00109-010-0634-1. Epub 2010 May 25.

PMID:
20499043
4.

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.

5.
6.

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
7.

[Radiological innovations in the screening and diagnosis of the inborn errors of metabolism].

Boddaert N, Ribeiro M, Touati G, Mention K, Valayanopoulos V, Nihoul-Fékété C, Brunelle F, de Lonlay P.

Med Sci (Paris). 2005 Nov;21(11):981-6. Review. French.

8.

L-Arabinosuria: a new defect in human pentose metabolism.

Onkenhout W, Groener JE, Verhoeven NM, Yin C, Laan LA.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):80-5.

PMID:
12359133
9.

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
10.

Polyols accumulated in ribose-5-phosphate isomerase deficiency increase mitochondrial superoxide production and improve antioxidant defenses in rats' prefrontal cortex.

Stone V, Kudo KY, August PM, Marcelino TB, Matté C.

Int J Dev Neurosci. 2014 Oct;37:21-5. doi: 10.1016/j.ijdevneu.2014.06.009. Epub 2014 Jun 23.

PMID:
24970317
11.

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
12.

Clinical presentations of patients with polyol abnormalities.

Huck JH, Verhoeven NM, van Hagen JM, Jakobs C, van der Knaap MS.

Neuropediatrics. 2004 Jun;35(3):167-73.

PMID:
15248099
13.

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
14.

Microsequencing and cDNA cloning of the Calvin cycle/OPPP enzyme ribose-5-phosphate isomerase (EC 5.3.1.6) from spinach chloroplasts.

Martin W, Henze K, Kellerman J, Flechner A, Schnarrenberger C.

Plant Mol Biol. 1996 Feb;30(4):795-805.

PMID:
8624410
15.

Identification and characterization of a novel Ribose 5-phosphate isomerase B from Leishmania donovani.

Kaur PK, Dinesh N, Soumya N, Babu NK, Singh S.

Biochem Biophys Res Commun. 2012 Apr 27;421(1):51-6. doi: 10.1016/j.bbrc.2012.03.107. Epub 2012 Mar 29.

PMID:
22483752
16.

Leukoencephalopathy associated with a disturbance in the metabolism of polyols.

van der Knaap MS, Wevers RA, Struys EA, Verhoeven NM, Pouwels PJ, Engelke UF, Feikema W, Valk J, Jakobs C.

Ann Neurol. 1999 Dec;46(6):925-8.

PMID:
10589548
17.

Structures of type B ribose 5-phosphate isomerase from Trypanosoma cruzi shed light on the determinants of sugar specificity in the structural family.

Stern AL, Naworyta A, Cazzulo JJ, Mowbray SL.

FEBS J. 2011 Mar;278(5):793-808. doi: 10.1111/j.1742-4658.2010.07999.x. Epub 2011 Jan 25.

18.

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
19.
20.

Xylose isomerase overexpression along with engineering of the pentose phosphate pathway and evolutionary engineering enable rapid xylose utilization and ethanol production by Saccharomyces cerevisiae.

Zhou H, Cheng JS, Wang BL, Fink GR, Stephanopoulos G.

Metab Eng. 2012 Nov;14(6):611-22. doi: 10.1016/j.ymben.2012.07.011. Epub 2012 Aug 16.

PMID:
22921355

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