These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
119 related articles for article (PubMed ID: 29292491)
1. 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; 42():79-87. PubMed ID: 29292491 [TBL] [Abstract][Full Text] [Related]
2. Successful Liver Transplantation in Two Polish Brothers with Transaldolase Deficiency. Stefanowicz M; Janowska M; Pawłowska J; Tylki-Szymańska A; Kowalski A; Szymczak M; Kaliciński P; Jankowska I Children (Basel); 2021 Aug; 8(9):. PubMed ID: 34572178 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. 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]
6. 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]
7. 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]
8. 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]
9. 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]
11. Identification of transaldolase as a novel serum biomarker for hepatocellular carcinoma metastasis using xenografted mouse model and clinic samples. Wang C; Guo K; Gao D; Kang X; Jiang K; Li Y; Sun L; Zhang S; Sun C; Liu X; Wu W; Yang P; Liu Y Cancer Lett; 2011 Dec; 313(2):154-66. PubMed ID: 22023829 [TBL] [Abstract][Full Text] [Related]
12. 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]
13. [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]
14. 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]
15. N-Acetylcysteine Therapy in an Infant with Transaldolase Deficiency Is Well Tolerated and Associated with Normalization of Alpha Fetoprotein Levels. Rodan LH; Berry GT JIMD Rep; 2017; 31():73-77. PubMed ID: 27130472 [TBL] [Abstract][Full Text] [Related]
16. Apparent Acetaminophen Toxicity in a Patient with Transaldolase Deficiency. Lee-Barber J; English TE; Britton JF; Sobreira N; Goldstein J; Valle D; Bjornsson HT JIMD Rep; 2019; 44():9-15. PubMed ID: 29923087 [TBL] [Abstract][Full Text] [Related]
17. 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]
18. 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]
19. 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]