120 related articles for article (PubMed ID: 18987485)
1. 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. PubMed ID: 18987485
[TBL] [Abstract][Full Text] [Related]
2. Analysis of polyols in urine by liquid chromatography-tandem mass spectrometry: a useful tool for recognition of inborn errors affecting polyol metabolism.
Wamelink MM; Smith DE; Jakobs C; Verhoeven NM
J Inherit Metab Dis; 2005; 28(6):951-63. PubMed ID: 16435188
[TBL] [Abstract][Full Text] [Related]
3. 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. PubMed ID: 15248099
[TBL] [Abstract][Full Text] [Related]
4. 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. PubMed ID: 14988808
[TBL] [Abstract][Full Text] [Related]
5. [A newly discovered metabolic diseases due to defects in the pentose pathway].
Tylki-Szymańska A; Stradomska TJ
Postepy Biochem; 2011; 57(2):168-71. PubMed ID: 21913417
[TBL] [Abstract][Full Text] [Related]
6. Simultaneous measurement of urinary polyols using gas chromatography/mass spectrometry.
Lee J; Chung BC
J Chromatogr B Analyt Technol Biomed Life Sci; 2006 Feb; 831(1-2):126-31. PubMed ID: 16356788
[TBL] [Abstract][Full Text] [Related]
7. Determination of polyol profiles in human urine by capillary gas chromatography.
Haga H; Nakajima T
Biomed Chromatogr; 1989 Mar; 3(2):68-71. PubMed ID: 2736321
[TBL] [Abstract][Full Text] [Related]
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. PubMed ID: 17095351
[TBL] [Abstract][Full Text] [Related]
9. 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. PubMed ID: 11283793
[TBL] [Abstract][Full Text] [Related]
10. 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. PubMed ID: 22510381
[TBL] [Abstract][Full Text] [Related]
11. Untargeted metabolomics as an unbiased approach to the diagnosis of inborn errors of metabolism of the non-oxidative branch of the pentose phosphate pathway.
Shayota BJ; Donti TR; Xiao J; Gijavanekar C; Kennedy AD; Hubert L; Rodan L; Vanderpluym C; Nowak C; Bjornsson HT; Ganetzky R; Berry GT; Pappan KL; Sutton VR; Sun Q; Elsea SH
Mol Genet Metab; 2020; 131(1-2):147-154. PubMed ID: 32828637
[TBL] [Abstract][Full Text] [Related]
12. Sensitive measurement of polyols in urine by capillary zone electrophoresis coupled with amperometric detection using on-column complexation with borate.
Ge SL; Wang H; Wang ZF; Cheng S; Wang QJ; He PG; Fang YZ
J Chromatogr B Analyt Technol Biomed Life Sci; 2013 Feb; 915-916():39-45. PubMed ID: 23328250
[TBL] [Abstract][Full Text] [Related]
13. 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. PubMed ID: 12881455
[TBL] [Abstract][Full Text] [Related]
14. Study of transaldolase deficiency in urine samples by capillary LC-MS/MS.
Vas G; Conkrite K; Amidon W; Qian Y; Bánki K; Perl A
J Mass Spectrom; 2006 Apr; 41(4):463-9. PubMed ID: 16470722
[TBL] [Abstract][Full Text] [Related]
15. [Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process].
Lipiński P; Stradomska T; Tylki-Szymańska A
Dev Period Med; 2018; 22(2):187-196. PubMed ID: 30056406
[TBL] [Abstract][Full Text] [Related]
16. Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism.
Huck JH; Roos B; Jakobs C; van der Knaap MS; Verhoeven NM
Mol Genet Metab; 2004 Jul; 82(3):231-7. PubMed ID: 15234337
[TBL] [Abstract][Full Text] [Related]
17. L-Arabinosuria: a new defect in human pentose metabolism.
Onkenhout W; Groener JE; Verhoeven NM; Yin C; Laan LA
Mol Genet Metab; 2002; 77(1-2):80-5. PubMed ID: 12359133
[TBL] [Abstract][Full Text] [Related]
18. Growth restriction at birth and kidney function during childhood.
Basioti M; Giapros V; Kostoula A; Cholevas V; Andronikou S
Am J Kidney Dis; 2009 Nov; 54(5):850-8. PubMed ID: 19628317
[TBL] [Abstract][Full Text] [Related]
19. [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. PubMed ID: 16274650
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 20600873
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
