Format
Items per page
Sort by

Send to:

Choose Destination

Results: 1 to 20 of 32

1.
2.

Continuous age- and sex-adjusted reference intervals of urinary markers for cerebral creatine deficiency syndromes: a novel approach to the definition of reference intervals.

Mørkrid L, Rowe AD, Elgstoen KB, Olesen JH, Ruijter G, Hall PL, Tortorelli S, Schulze A, Kyriakopoulou L, Wamelink MM, van de Kamp JM, Salomons GS, Rinaldo P.

Clin Chem. 2015 May;61(5):760-8. doi: 10.1373/clinchem.2014.235564. Epub 2015 Mar 10.

PMID:
25759465
3.

First two unrelated cases of isolated sedoheptulokinase deficiency: A benign disorder?

Wamelink MM, Ramos RJ, van den Elzen AP, Ruijter GJ, Bonte R, Diogo L, Garcia P, Neves N, Nota B, Haschemi A, Tavares de Almeida I, Salomons GS.

J Inherit Metab Dis. 2015 Feb 3. [Epub ahead of print]

PMID:
25647543
4.

The return of metabolism: biochemistry and physiology of the pentose phosphate pathway.

Stincone A, Prigione A, Cramer T, Wamelink MM, Campbell K, Cheung E, Olin-Sandoval V, Grüning N, Krüger A, Tauqeer Alam M, Keller MA, Breitenbach M, Brindle KM, Rabinowitz JD, Ralser M.

Biol Rev Camb Philos Soc. 2014 Sep 22. doi: 10.1111/brv.12140. [Epub ahead of print]

5.

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 Oct;57(10):543-51. doi: 10.1016/j.ejmg.2014.07.002. Epub 2014 Jul 29.

PMID:
25078763
6.

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
7.

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.

8.

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.

9.

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.

10.

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
11.

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
12.

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.

13.

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.

14.

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
15.

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
16.

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
17.

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
18.

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.

19.

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.

20.

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
Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Loading ...
Write to the Help Desk