133 related articles for article (PubMed ID: 30740741)
21. 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]
22. 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]
23. 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]
24. 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]
25. 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]
26. 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]
27. Hormonal evaluation in relation to phenotype and genotype in 286 patients with a disorder of sex development from Indonesia.
Juniarto AZ; van der Zwan YG; Santosa A; Ariani MD; Eggers S; Hersmus R; Themmen AP; Bruggenwirth HT; Wolffenbuttel KP; Sinclair A; White SJ; Looijenga LH; de Jong FH; Faradz SM; Drop SL
Clin Endocrinol (Oxf); 2016 Aug; 85(2):247-57. PubMed ID: 26935236
[TBL] [Abstract][Full Text] [Related]
28. Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG; Klepper J; Verbeek MM; Leferink M; Hofste T; van Engelen BG; Wevers RA; Arthur T; Bahi-Buisson N; Ballhausen D; Bekhof J; van Bogaert P; Carrilho I; Chabrol B; Champion MP; Coldwell J; Clayton P; Donner E; Evangeliou A; Ebinger F; Farrell K; Forsyth RJ; de Goede CG; Gross S; Grunewald S; Holthausen H; Jayawant S; Lachlan K; Laugel V; Leppig K; Lim MJ; Mancini G; Marina AD; Martorell L; McMenamin J; Meuwissen ME; Mundy H; Nilsson NO; Panzer A; Poll-The BT; Rauscher C; Rouselle CM; Sandvig I; Scheffner T; Sheridan E; Simpson N; Sykora P; Tomlinson R; Trounce J; Webb D; Weschke B; Scheffer H; Willemsen MA
Brain; 2010 Mar; 133(Pt 3):655-70. PubMed ID: 20129935
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Transaldolase: from biochemistry to human disease.
Samland AK; Sprenger GA
Int J Biochem Cell Biol; 2009 Jul; 41(7):1482-94. PubMed ID: 19401148
[TBL] [Abstract][Full Text] [Related]
31. Characterization of non-oxidative transaldolase and transketolase enzymes in the pentose phosphate pathway with regard to xylose utilization by recombinant Saccharomyces cerevisiae.
Matsushika A; Goshima T; Fujii T; Inoue H; Sawayama S; Yano S
Enzyme Microb Technol; 2012 Jun; 51(1):16-25. PubMed ID: 22579386
[TBL] [Abstract][Full Text] [Related]
32. A Rare Cause of Hypergonadotropic Hypogonadism: Transaldolase Deficiency in Two Siblings.
Yildiz M; Onal Z; Yesil G; Kabil TG; Toksoy G; Poyrazoglu S; Bas F; Durmaz O; Darendeliler F
J Clin Res Pediatr Endocrinol; 2023 Feb; ():. PubMed ID: 36825476
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. mTOR-dependent loss of PON1 secretion and antiphospholipid autoantibody production underlie autoimmunity-mediated cirrhosis in transaldolase deficiency.
Winans T; Oaks Z; Choudhary G; Patel A; Huang N; Faludi T; Krakko D; Nolan J; Lewis J; Blair S; Lai Z; Landas SK; Middleton F; Asara JM; Chung SK; Wyman B; Azadi P; Banki K; Perl A
J Autoimmun; 2023 Nov; 140():103112. PubMed ID: 37742509
[TBL] [Abstract][Full Text] [Related]
35. Transaldolase of Methanocaldococcus jannaschii.
Soderberg T; Alver RC
Archaea; 2004 Oct; 1(4):255-62. PubMed ID: 15810435
[TBL] [Abstract][Full Text] [Related]
36. Lysine144 is essential for the catalytic activity of Saccharomyces cerevisiae transaldolase.
Miosga T; Schaaff-Gerstenschlager I; Franken E; Zimmermann FK
Yeast; 1993 Nov; 9(11):1241-9. PubMed ID: 8109173
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. The pathogenesis of transaldolase deficiency.
Perl A
IUBMB Life; 2007 Jun; 59(6):365-73. PubMed ID: 17613166
[TBL] [Abstract][Full Text] [Related]
39. Transaldolase deficiency influences the pentose phosphate pathway, mitochondrial homoeostasis and apoptosis signal processing.
Qian Y; Banerjee S; Grossman CE; Amidon W; Nagy G; Barcza M; Niland B; Karp DR; Middleton FA; Banki K; Perl A
Biochem J; 2008 Oct; 415(1):123-34. PubMed ID: 18498245
[TBL] [Abstract][Full Text] [Related]
40. Male patients with partial androgen insensitivity syndrome: a longitudinal follow-up of growth, reproductive hormones and the development of gynaecomastia.
Hellmann P; Christiansen P; Johannsen TH; Main KM; Duno M; Juul A
Arch Dis Child; 2012 May; 97(5):403-9. PubMed ID: 22412043
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]