BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

164 related articles for article (PubMed ID: 17603756)

  • 21. 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]  

  • 22. [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]  

  • 23. 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]  

  • 24. Sedoheptulose 1,7-biphosphate.
    Tsolas O
    Methods Enzymol; 1975; 41():77-9. PubMed ID: 1168839
    [No Abstract]   [Full Text] [Related]  

  • 25. Reference intervals for orotic acid in urine, plasma and dried blood spot using hydrophilic interaction liquid chromatography-tandem mass spectrometry.
    D'Apolito O; Garofalo D; la Marca G; Dello Russo A; Corso G
    J Chromatogr B Analyt Technol Biomed Life Sci; 2012 Feb; 883-884():155-60. PubMed ID: 22019295
    [TBL] [Abstract][Full Text] [Related]  

  • 26. CREATININE DETERMINATION IN URINE BY LIQUID CHROMATOGRAPHY-ELECTROSPRAY IONIZATION-TANDEM MASS SPECTROMETRY METHOD.
    Dereziński P; Klupczyńska A; Sawicki W; Kokot ZJ
    Acta Pol Pharm; 2016; 73(2):303-13. PubMed ID: 27180423
    [TBL] [Abstract][Full Text] [Related]  

  • 27. [Formation of nonphosphorylated sedoheptulose by the transaldolase reaction between fructose-6-phosphate and D-erythrose].
    PRANDINI BD; LOPES DO ROSARIO JA
    Boll Soc Ital Biol Sper; 1960 Nov; 36():1224-6. PubMed ID: 13737717
    [No Abstract]   [Full Text] [Related]  

  • 28. Retrospective detection of transaldolase deficiency in amniotic fluid: implications for prenatal diagnosis.
    Wamelink MM; Struys EA; Valayannopoulos V; Gonzales M; Saudubray JM; Jakobs C
    Prenat Diagn; 2008 May; 28(5):460-2. PubMed ID: 18444224
    [No Abstract]   [Full Text] [Related]  

  • 29. Late diagnosis of a rare multisystemic genetic disorder: Transaldolase deficiency due to homozygous TALDO1 c.345dupA variant.
    Dirim AB; Kalayci T; Safak S; Garayeva Guller N; Oto OA; Artan AS; Ozturk S; Yazici H
    Nephrology (Carlton); 2024 Jan; 29(1):55-56. PubMed ID: 37740560
    [No Abstract]   [Full Text] [Related]  

  • 30. Liver Disease and Risk of Hepatocellular Carcinoma in Children With Mutations in TALDO1.
    Grammatikopoulos T; Hadzic N; Foskett P; Strautnieks S; Samyn M; Vara R; Dhawan A; Hertecant J; Al Jasmi F; Rahman O; Deheragoda M; Bull LN; Thompson RJ;
    Hepatol Commun; 2022 Mar; 6(3):473-479. PubMed ID: 34677006
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene.
    Wamelink MM; Struys EA; Jansen EE; Levtchenko EN; Zijlstra FS; Engelke U; Blom HJ; Jakobs C; Wevers RA
    Hum Mutat; 2008 Apr; 29(4):532-6. PubMed ID: 18186520
    [TBL] [Abstract][Full Text] [Related]  

  • 33. 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]  

  • 34. 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. PubMed ID: 18987987
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Quantitative urine amino acid analysis using liquid chromatography tandem mass spectrometry and aTRAQ reagents.
    Held PK; White L; Pasquali M
    J Chromatogr B Analyt Technol Biomed Life Sci; 2011 Sep; 879(26):2695-703. PubMed ID: 21852206
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Glycoscreening by on-line sheathless capillary electrophoresis/electrospray ionization-quadrupole time of flight-tandem mass spectrometry.
    Zamfir A; Peter-Katalinic J
    Electrophoresis; 2001 Aug; 22(12):2448-57. PubMed ID: 11519949
    [TBL] [Abstract][Full Text] [Related]  

  • 37. [Screening for oligosaccharides in the urine of infants and toddlers].
    Zeman L; Zeman J; Kozich V; Bezdícková V
    Cesk Pediatr; 1988 Oct; 43(10):590-3. PubMed ID: 3208326
    [No Abstract]   [Full Text] [Related]  

  • 38. 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; 382(Pt 2):725-31. PubMed ID: 15115436
    [TBL] [Abstract][Full Text] [Related]  

  • 39. 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]  

  • 40. Selective screening for inborn errors of metabolism on clinical patients using tandem mass spectrometry in China: a four-year report.
    Han LS; Ye J; Qiu WJ; Gao XL; Wang Y; Gu XF
    J Inherit Metab Dis; 2007 Aug; 30(4):507-14. PubMed ID: 17347912
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.