B. Roos

发表

Creatine and guanidinoacetate: diagnostic markers for inborn errors in creatine biosynthesis and transport.

M. L. Cardoso, L. Vilarinho, N. Verhoeven, 2004, Molecular genetics and metabolism.

Determination of guanidinoacetate and creatine in urine and plasma by liquid chromatography-tandem mass spectrometry.

D. Cheillan, C. Vianey‐Saban, C. Jakobs, 2004, Clinical chemistry.

Guanidinoacetate Methyltransferase Activity in Lymphocytes, for a Fast Diagnosis.

E. Struys, G. Salomons, E. Jansen, 2017, JIMD reports.

Enzyme assay for diagnosis of guanidinoacetate methyltransferase deficiency.

M. S. van der Knaap, N. Verhoeven, C. Jakobs, 2004, Clinical chemistry.

Diagnostic enzyme assay that uses stable-isotope-labeled substrates to detect L-arginine:glycine amidinotransferase deficiency.

R. Battini, S. Stöckler‐Ipsiroglu, N. Verhoeven, 2003, Clinical chemistry.

Quantification of sugar phosphate intermediates of the pentose phosphate pathway by LC-MS/MS: application to two new inherited defects of metabolism.

M. S. van der Knaap, N. Verhoeven, C. Jakobs, 2005, Journal of chromatography. B, Analytical technologies in the biomedical and life sciences.

Neurofilament light chain and glial fibrillary acidic protein levels in metachromatic leukodystrophy

C. Teunissen, M. S. van der Knaap, N. Wolf, 2021, Brain : a journal of neurology.

N. Verhoeven, C. Jakobs, E. Struys, 2003, Clinical chemistry.

Transaldolase deficiency: liver cirrhosis associated with a new inborn error in the pentose phosphate pathway.

M. Knaap, M. S. van der Knaap, N. Verhoeven, 2001, American journal of human genetics.

A Missense Variant in ALDH5A1 Associated with Canine Succinic Semialdehyde Dehydrogenase Deficiency (SSADHD) in the Saluki Dog

C. T. Brown, T. Mansour, C. Drögemüller, 2020, Genes.

Familial 6p22.2 duplication associates with mild developmental delay and increased SSADH activity

S. Knuutila, K. Gibson, C. Jakobs, 2011, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutations in TKT Are the Cause of a Syndrome Including Short Stature, Developmental Delay, and Congenital Heart Defects.

W. Chung, S. Saitta, J. Wynn, 2016, American journal of human genetics.

Consequences of myocardial reperfusion following temporary coronary occlusion in pigs: effects on morphologic, biochemical and haemodynamic findings

H. Baur, U. Althaus, H. Gurtner, 1977, European journal of clinical investigation.

Functional analysis of thirty-four suspected pathogenic missense variants in ALDH5A1 gene associated with succinic semialdehyde dehydrogenase deficiency.

H. Waterham, S. Natesan, Silvy J. M. Dooren, 2020, Molecular genetics and metabolism.

Transcriptome analysis of peripheral blood mononuclear cells in human subjects following a 36 h fast provides evidence of effects on genes regulating inflammation, apoptosis and energy metabolism

E. Mariman, C. Evelo, H. Daniel, 2014, Genes & Nutrition.

Evaluation of pentitol metabolism in mammalian tissues provides new insight into disorders of human sugar metabolism.

M. S. van der Knaap, N. Verhoeven, C. Jakobs, 2004, Molecular genetics and metabolism.