Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects
Boyle, Lia, Wamelink, Mirjam M.C., Salomons, Gajja S., Roos, Birthe, Pop, Ana, Dauber, Andrew, Hwa, Vivian, Andrew, Melissa, Douglas, Jessica, Feingold, Murray, Kramer, Nancy, Saitta, Sulagna, Retterer, Kyle, Cho, Megan T., Begtrup, Amber, Monaghan, Kristin G., Wynn, Julia, Chung, Wendy K.
Published in American journal of human genetics (02.06.2016)
Published in American journal of human genetics (02.06.2016)
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Journal Article
Laboratory diagnosis of creatine deficiency syndromes: a technical standard and guideline of the American College of Medical Genetics and Genomics
Sharer, J. Daniel, Bodamer, Olaf, Longo, Nicola, Tortorelli, Silvia, Wamelink, Mirjam M.C., Young, Sarah
Published in Genetics in medicine (01.02.2017)
Published in Genetics in medicine (01.02.2017)
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Journal Article
Novel Heterozygous Mutations in TALDO1 Gene Causing Transaldolase Deficiency and Early Infantile Liver Failure
Balasubramaniam, S, Wamelink, Mirjam MC, Ngu, Lock‐Hock, Talib, Arni, Salomons, Gajja S, Jakobs, Cornelis, Keng, Wee‐Teik
Published in Journal of pediatric gastroenterology and nutrition (01.01.2011)
Published in Journal of pediatric gastroenterology and nutrition (01.01.2011)
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Journal Article
Sedoheptulokinase deficiency due to a 57-kb deletion in cystinosis patients causes urinary accumulation of sedoheptulose: elucidation of the CARKL gene
Wamelink, Mirjam M.C, Struys, Eduard A, Jansen, Erwin E.W, Levtchenko, Elena N, Zijlstra, Fokje S.M, Engelke, Udo, Blom, Henk J, Jakobs, Cornelis, Wevers, Ron A
Published in Human mutation (01.04.2008)
Published in Human mutation (01.04.2008)
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Journal Article
Mild hemolytic anemia, progressive neuromotor retardation and fatal outcome: a disorder of glycolysis, triose- phosphate isomerase deficiency
Sarper, Nazan, Zengin, Emine, Jakobs, Cornelis, Salomons, Gajja S, Mc Wamelink, Mirjam, Ralser, Markus, Kurt, Koray, Kara, Bülent
Published in Turkish journal of pediatrics (01.03.2013)
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Published in Turkish journal of pediatrics (01.03.2013)
Journal Article
Transaldolase deficiency in two new patients with a relative mild phenotype
Tylki-Szymańska, Anna, Stradomska, Teresa J., Wamelink, Mirjam M.C., Salomons, Gajja S., Taybert, Joanna, Pawłowska, Joanna, Jakobs, Cornelis
Published in Molecular genetics and metabolism (01.05.2009)
Published in Molecular genetics and metabolism (01.05.2009)
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Journal Article
The end of the laboratory developed test as we know it? Recommendations from a national multidisciplinary taskforce of laboratory specialists on the interpretation of the IVDR and its complications
Bank, Paul C.D., Jacobs, Leo H.J., van den Berg, Sjoerd A.A., van Deutekom, Hanneke W.M., Hamann, Dörte, Molenkamp, Richard, Ruivenkamp, Claudia A.L., Swen, Jesse J., Tops, Bastiaan B.J., Wamelink, Mirjam M.C., Wessels, Els, Oosterhuis, Wytze P.
Published in Clinical chemistry and laboratory medicine (23.02.2021)
Published in Clinical chemistry and laboratory medicine (23.02.2021)
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Journal Article
A haploproficient interaction of the transaldolase paralogue NQM1 with the transcription factor VHR1 affects stationary phase survival and oxidative stress resistance
Michel, Steve, Keller, Markus A, Wamelink, Mirjam M C, Ralser, Markus
Published in BMC genetics (11.02.2015)
Published in BMC genetics (11.02.2015)
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Journal Article