BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

166 related articles for article (PubMed ID: 23315216)

  • 1. 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. PubMed ID: 23315216
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [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]  

  • 3. 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. PubMed ID: 25388407
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
    Williams M; Valayannopoulos V; Altassan R; Chung WK; Heijboer AC; Keng WT; Lapatto R; McClean P; Mulder MF; Tylki-Szymańska A; Walenkamp ME; Alfadhel M; Alakeel H; Salomons GS; Eyaid W; Wamelink MMC
    J Inherit Metab Dis; 2019 Jan; 42(1):147-158. PubMed ID: 30740741
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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. PubMed ID: 24497183
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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. PubMed ID: 19299175
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 9. Hypergonadotrophic hypogonadism in a patient with transaldolase deficiency: novel mutation in the pentose phosphate pathway.
    Lafcı NG; Colak FK; Sahin G; Sakar M; Çetinkaya S; Savas-Erdeve S
    Hormones (Athens); 2021 Sep; 20(3):581-585. PubMed ID: 33159679
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. 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. PubMed ID: 17603756
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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. PubMed ID: 18331807
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. Pulmonary manifestations in a patient with transaldolase deficiency.
    Jassim N; Alghaihab M; Saleh SA; Alfadhel M; Wamelink MM; Eyaid W
    JIMD Rep; 2014; 12():47-50. PubMed ID: 23846909
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.
    Al-Mayouf SM; AlTassan RS; AlOwain MA
    Clin Rheumatol; 2020 Nov; 39(11):3511-3515. PubMed ID: 32506314
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Defective protein glycosylation in patients with cutis laxa syndrome.
    Morava E; Wopereis S; Coucke P; Gillessen-Kaesbach G; Voit T; Smeitink J; Wevers R; Grünewald S
    Eur J Hum Genet; 2005 Apr; 13(4):414-21. PubMed ID: 15657616
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Transaldolase Deficiency: A New Case Expands the Phenotypic Spectrum.
    Banne E; Meiner V; Shaag A; Katz-Brull R; Gamliel A; Korman S; Cederboim SH; Duvdevani MP; Frumkin A; Zilkha A; Kapuller V; Arbell D; Cohen E; Eventov-Friedman S
    JIMD Rep; 2016; 26():31-6. PubMed ID: 26238251
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. 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. PubMed ID: 15877206
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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. PubMed ID: 21119539
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.