Birthe Roos

Statistics

Publications

Citations

721

H-Index

Active since

2001

Affiliations

Amsterdam UMC Location Vrije Universiteit Amsterdam(Current)

Amsterdam Neuroscience

Amsterdam University Medical Centers

Washington State University Spokane

Vrije Universiteit Amsterdam

Birthe Roos is an author at Amsterdam UMC Location Vrije Universiteit Amsterdam specializing in life sciences, biochemistry, and inborn errors of metabolism.

Publications per year

2001–2021

Publications

Transaldolase Deficiency: Liver Cirrhosis Associated with a New Inborn Error in the Pentose Phosphate Pathway

Nanda M. Verhoeven, Jojanneke H.J. Huck, Birthe Roos et al. · The American Journal of Human Genetics · 2001 · 138 citations · Full text

Life Sciences, Biochemistry, Internal Medicine +17

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

Lígia S. Almeida, Nanda M. Verhoeven, Birthe Roos et al. · Molecular Genetics and Metabolism · 2004 · 136 citations

Life Sciences, Biochemistry, Physiology +10

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

Mirjam M. C. Wamelink, Eduard A. Struys, Jojanneke H.J. Huck et al. · Journal of Chromatography B · 2005 · 73 citations

Life Sciences, Biochemistry, Molecular Biology +12

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

Lia Boyle, Mirjam M. C. Wamelink, Gajja S. Salomons et al. · The American Journal of Human Genetics · 2016 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Determination of Guanidinoacetate and Creatine in Urine and Plasma by Liquid Chromatography–Tandem Mass Spectrometry

S. Cognat, David Cheillan, Monique Piraud et al. · Clinical Chemistry · 2004 · 56 citations · Full text

Life Sciences, Biochemistry, Clinical Biochemistry +10

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