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Results: 1 to 20 of 28

1.

Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.

Kaasinen E, Rahikkala E, Koivunen P, Miettinen S, Wamelink MM, Aavikko M, Palin K, Myllyharju J, Moilanen JS, Pajunen L, Karhu A, Aaltonen LA.

Eur J Med Genet. 2014 Jul 29. pii: S1769-7212(14)00149-9. doi: 10.1016/j.ejmg.2014.07.002. [Epub ahead of print]

PMID:
25078763
[PubMed - as supplied by publisher]
2.

Pyroglutamic acid-induced metabolic acidosis: a case report.

Luyasu S, Wamelink MM, Galanti L, Dive A.

Acta Clin Belg. 2014 Jun;69(3):221-3. doi: 10.1179/2295333714Y.0000000022. Epub 2014 Apr 2.

PMID:
24694265
[PubMed - indexed for MEDLINE]
3.

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 Feb 5. [Epub ahead of print]

PMID:
24497183
[PubMed - as supplied by publisher]
4.

Novel association of early onset hepatocellular carcinoma with transaldolase deficiency.

Leduc CA, Crouch EE, Wilson A, Lefkowitch J, Wamelink MM, Jakobs C, Salomons GS, Sun X, Shen Y, Chung WK.

JIMD Rep. 2014;12:121-7. doi: 10.1007/8904_2013_254. Epub 2013 Oct 6.

PMID:
24097415
[PubMed]
Free PMC Article
5.

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.

PMID:
23846909
[PubMed]
Free PMC Article
6.

Phenotype and genotype in 101 males with X-linked creatine transporter deficiency.

van de Kamp JM, Betsalel OT, Mercimek-Mahmutoglu S, Abulhoul L, Grünewald S, Anselm I, Azzouz H, Bratkovic D, de Brouwer A, Hamel B, Kleefstra T, Yntema H, Campistol J, Vilaseca MA, Cheillan D, D'Hooghe M, Diogo L, Garcia P, Valongo C, Fonseca M, Frints S, Wilcken B, von der Haar S, Meijers-Heijboer HE, Hofstede F, Johnson D, Kant SG, Lion-Francois L, Pitelet G, Longo N, Maat-Kievit JA, Monteiro JP, Munnich A, Muntau AC, Nassogne MC, Osaka H, Ounap K, Pinard JM, Quijano-Roy S, Poggenburg I, Poplawski N, Abdul-Rahman O, Ribes A, Arias A, Yaplito-Lee J, Schulze A, Schwartz CE, Schwenger S, Soares G, Sznajer Y, Valayannopoulos V, Van Esch H, Waltz S, Wamelink MM, Pouwels PJ, Errami A, van der Knaap MS, Jakobs C, Mancini GM, Salomons GS.

J Med Genet. 2013 Jul;50(7):463-72. doi: 10.1136/jmedgenet-2013-101658. Epub 2013 May 3.

PMID:
23644449
[PubMed - indexed for MEDLINE]
7.

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
[PubMed - indexed for MEDLINE]
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. doi: 10.1093/ndt/gfs061. Epub 2012 Apr 17.

PMID:
22510381
[PubMed - indexed for MEDLINE]
Free Article
9.

Pyruvate kinase triggers a metabolic feedback loop that controls redox metabolism in respiring cells.

Grüning NM, Rinnerthaler M, Bluemlein K, Mülleder M, Wamelink MM, Lehrach H, Jakobs C, Breitenbach M, Ralser M.

Cell Metab. 2011 Sep 7;14(3):415-27. doi: 10.1016/j.cmet.2011.06.017.

PMID:
21907146
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

N-acetylaspartylglutamate in CNS hypomyelination.

Wamelink MM, Struys E, Holwerda U, Sistermans EA, van Spaendonk RM, Halley D, Willemsen MA, Jakobs C, van der Knaap MS, Wolf NI.

Neuropediatrics. 2011 Feb;42(2):74-7. doi: 10.1055/s-0031-1277176. Epub 2011 May 3.

PMID:
21544765
[PubMed - indexed for MEDLINE]
11.

The pentose phosphate pathway is a metabolic redox sensor and regulates transcription during the antioxidant response.

Krüger A, Grüning NM, Wamelink MM, Kerick M, Kirpy A, Parkhomchuk D, Bluemlein K, Schweiger MR, Soldatov A, Lehrach H, Jakobs C, Ralser M.

Antioxid Redox Signal. 2011 Jul 15;15(2):311-24. doi: 10.1089/ars.2010.3797. Epub 2011 May 19.

PMID:
21348809
[PubMed - indexed for MEDLINE]
12.

Elevated concentrations of sedoheptulose in bloodspots of patients with cystinosis caused by the 57-kb deletion: implications for diagnostics and neonatal screening.

Wamelink MM, Struys EA, Jansen EE, Blom HJ, Vilboux T, Gahl WA, Kömhoff M, Jakobs C, Levtchenko EN.

Mol Genet Metab. 2011 Mar;102(3):339-42. doi: 10.1016/j.ymgme.2010.12.002. Epub 2010 Dec 13.

PMID:
21195649
[PubMed - indexed for MEDLINE]
13.

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. doi: 10.1097/MPG.0b013e3181f50388. No abstract available.

PMID:
21119539
[PubMed - indexed for MEDLINE]
14.

4-Hydroxybutyric aciduria associated with catheter usage: a diagnostic pitfall in the identification of SSADH deficiency.

Wamelink MM, Roos B, Jansen EE, Mulder MF, Gibson KM, Jakobs C.

Mol Genet Metab. 2011 Feb;102(2):216-7. doi: 10.1016/j.ymgme.2010.10.001. Epub 2010 Oct 7.

PMID:
20965758
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

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.

PMID:
20600873
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

The difference between rare and exceptionally rare: molecular characterization of ribose 5-phosphate isomerase deficiency.

Wamelink MM, Grüning NM, Jansen EE, Bluemlein K, Lehrach H, Jakobs C, Ralser M.

J Mol Med (Berl). 2010 Sep;88(9):931-9. doi: 10.1007/s00109-010-0634-1. Epub 2010 May 25.

PMID:
20499043
[PubMed - indexed for MEDLINE]
17.

Accumulation of thymidine-derived sugars in thymidine phosphorylase overexpressing cells.

Bijnsdorp IV, Azijli K, Jansen EE, Wamelink MM, Jakobs C, Struys EA, Fukushima M, Kruyt FA, Peters GJ.

Biochem Pharmacol. 2010 Sep 15;80(6):786-92. doi: 10.1016/j.bcp.2010.05.009. Epub 2010 May 19.

PMID:
20488166
[PubMed - indexed for MEDLINE]
18.

Metabolic reconfiguration precedes transcriptional regulation in the antioxidant response.

Ralser M, Wamelink MM, Latkolik S, Jansen EE, Lehrach H, Jakobs C.

Nat Biotechnol. 2009 Jul;27(7):604-5. doi: 10.1038/nbt0709-604. No abstract available.

PMID:
19587661
[PubMed - indexed for MEDLINE]
19.

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
[PubMed - indexed for MEDLINE]
20.

A catabolic block does not sufficiently explain how 2-deoxy-D-glucose inhibits cell growth.

Ralser M, Wamelink MM, Struys EA, Joppich C, Krobitsch S, Jakobs C, Lehrach H.

Proc Natl Acad Sci U S A. 2008 Nov 18;105(46):17807-11. doi: 10.1073/pnas.0803090105. Epub 2008 Nov 11.

PMID:
19004802
[PubMed - indexed for MEDLINE]
Free PMC Article

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