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Ron A Wevers

Showing results (71-80 of 266) with videos related to

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Journal of Lipid Research|March 19, 2017
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratiosFrédéric M Vaz, Albert H Bootsma, Willem Kulik, et al.
Clinical Dysmorphology|February 3, 2011
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?Nicola Brunetti-Pierri, Pasquale Piccolo, Eva Morava, et al.
JIMD Reports|February 23, 2013
The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explainedTessa Wassenberg, Leo A H Monnens, Ben P B H Geurtz, et al.
Journal of Inherited Metabolic Disease|May 13, 2022
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disordersBrechtje Hoegen, Juliet E Hampstead, Udo F H Engelke, et al.
Annals of Clinical Biochemistry|January 25, 2003
Cobalamin-binding proteins in normal and cobalamin-deficient older subjectsDieneke Z B van Asselt, Chris M G Thomas, Martin F G Segers, et al.
Journal of Inherited Metabolic Disease|September 21, 2010
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotypeMarlies J Valstar, Hennie T Bruggenwirth, Renske Olmer, et al.
European Journal of Human Genetics : EJHG|March 16, 2007
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermiaEva Morava, Renate Zeevaert, Eckhard Korsch, et al.
Molecular Genetics and Metabolism|June 24, 2008
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type IaGerben Truin, Mailys Guillard, Dirk J Lefeber, et al.
Journal of Proteome Research|December 13, 2005
Serial isoelectric focusing as an effective and economic way to obtain maximal resolution and high-throughput in 2D-based comparative proteomics of scarce samples: proof-of-principleMurtada H Farhoud, Hans J C T Wessels, Ron A Wevers, et al.
Clinical Chemistry|December 16, 2006
Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defectsSuzan Wopereis, Stephanie Grünewald, Karin M L C Huijben, et al.
Pageof 27

Showing results (71-80 of 266) with videos related to

Sort By:
Pageof 27
Journal of Lipid Research|March 19, 2017
A newborn screening method for cerebrotendinous xanthomatosis using bile alcohol glucuronides and metabolite ratiosFrédéric M Vaz, Albert H Bootsma, Willem Kulik, et al.
Clinical Dysmorphology|February 3, 2011
Cutis laxa and fatal pulmonary hypertension: a newly recognized syndrome?Nicola Brunetti-Pierri, Pasquale Piccolo, Eva Morava, et al.
JIMD Reports|February 23, 2013
The paradox of hyperdopaminuria in aromatic L-amino Acid deficiency explainedTessa Wassenberg, Leo A H Monnens, Ben P B H Geurtz, et al.
Journal of Inherited Metabolic Disease|May 13, 2022
Application of metabolite set enrichment analysis on untargeted metabolomics data prioritises relevant pathways and detects novel biomarkers for inherited metabolic disordersBrechtje Hoegen, Juliet E Hampstead, Udo F H Engelke, et al.
Annals of Clinical Biochemistry|January 25, 2003
Cobalamin-binding proteins in normal and cobalamin-deficient older subjectsDieneke Z B van Asselt, Chris M G Thomas, Martin F G Segers, et al.
Journal of Inherited Metabolic Disease|September 21, 2010
Mucopolysaccharidosis type IIIB may predominantly present with an attenuated clinical phenotypeMarlies J Valstar, Hennie T Bruggenwirth, Renske Olmer, et al.
European Journal of Human Genetics : EJHG|March 16, 2007
A common mutation in the COG7 gene with a consistent phenotype including microcephaly, adducted thumbs, growth retardation, VSD and episodes of hyperthermiaEva Morava, Renate Zeevaert, Eckhard Korsch, et al.
Molecular Genetics and Metabolism|June 24, 2008
Pericardial and abdominal fluid accumulation in congenital disorder of glycosylation type IaGerben Truin, Mailys Guillard, Dirk J Lefeber, et al.
Journal of Proteome Research|December 13, 2005
Serial isoelectric focusing as an effective and economic way to obtain maximal resolution and high-throughput in 2D-based comparative proteomics of scarce samples: proof-of-principleMurtada H Farhoud, Hans J C T Wessels, Ron A Wevers, et al.
Clinical Chemistry|December 16, 2006
Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defectsSuzan Wopereis, Stephanie Grünewald, Karin M L C Huijben, et al.
Pageof 27