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Items: 1 to 20 of 101

1.

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. doi: 10.1002/jimd.12036.

PMID:
30740741
2.

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 MJE, Alfadhel M, Alakeel H, Salomons GS, Eyaid W, Wamelink MMC.

J Inherit Metab Dis. 2018 May 2. doi: 10.1007/s10545-018-0184-1. [Epub ahead of print]

PMID:
29721915
3.

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. doi: 10.1007/s10545-012-9577-8. Epub 2013 Jan 12.

PMID:
23315216
4.

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. doi: 10.1016/j.ymgme.2009.01.016. Epub 2009 Feb 10.

PMID:
19299175
5.

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. doi: 10.1093/ndt/gfs061. Epub 2012 Apr 17.

PMID:
22510381
6.

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. doi: 10.1016/j.ymgme.2008.01.011. Epub 2008 Mar 10.

PMID:
18331807
7.

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. doi: 10.1007/8904_2017_83. Epub 2018 Jan 3.

8.

[Transaldolase deficiency - clinical outcome, pathogenesis, diagnostic process].

Lipiński P, Stradomska T, Tylki-Szymańska A.

Dev Period Med. 2018;22(2):187-196. Polish.

9.

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. doi: 10.1007/8904_2015_474. Epub 2015 Aug 4.

10.

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. doi: 10.1007/s00431-014-2261-2. Epub 2014 Feb 5.

11.

A study of the endocrine manifestations of hepatic cirrhosis.

Baker HW, Burger HG, de Kretser DM, Dulmanis A, Hudson B, O'Connor S, Paulsen CA, Purcell N, Rennie GC, Seah CS, Taft HP, Wang C.

Q J Med. 1976 Jan;45(177):145-78.

PMID:
769039
12.

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. doi: 10.1016/j.bbadis.2010.06.007. Epub 2010 Jun 18.

13.

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.

PMID:
17095351
14.

Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency.

Balasubramanian R, Crowley WF Jr.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2007 May 23 [updated 2017 Mar 2].

15.
16.

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. doi: 10.1007/8904_2013_243. Epub 2013 Jul 12.

17.

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. 2018 Jun 20. doi: 10.1007/8904_2018_116. [Epub ahead of print]

18.
19.

Correlation between integrated LH and FSH levels and the response to luteinizing hormone relasing factor (LRF).

Mortimer RH, Fleischer N, Lev-Gur M, Freeman RG.

J Clin Endocrinol Metab. 1976 Dec;43(6):1240-9.

PMID:
794076
20.

Effects of long-term erythropoietin therapy on the hypothalamo-pituitary-testicular axis in male CAPD patients.

Tokgöz B, Utaş C, Dogukan A, Güven M, Taşkapan H, Oymak O, Keleştimur F.

Perit Dial Int. 2001 Sep-Oct;21(5):448-54.

PMID:
11757827

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