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15 research outputs found
Rapid and Reliable Measurement of Highly Elevated Blood Ammonia Concentrations in Children
Author
Brandts Rob W.
Hofs Marc T. W.
+4 more
Jakobs Bernadette S.
Keijzer Marinus H. de
Smeitink Jan A. M.
Trijbels Frans J. M.
Publication venue
'Walter de Gruyter GmbH'
Publication date
01/01/1997
Field of study
Get PDF
Peer Reviewe
Dokumenten-Publikationsserver der Humboldt-Universität zu Berlin
A second common variant in the methylenetetrahydrofolate reductase (MTHFR) gene and its relationship to MTHFR enzyme activity, homocysteine, and cardiovascular disease risk
Author
Frans J. Trijbels
Godfried H. Boers
+6 more
Henk J. Blom
Karin J. Lievers
Leo A. Kluijtmans
Martin Heijer
Nathalie M. Put
Petra Verhoef
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
The Molecular Basis of Dutch Infantile Nephropathic Cystinosis
Author
Elena Levtchenko
Frans J.M. Trijbels
+4 more
Henk J. Blom
Leo A.H. Monnens
Nathalie M.J. van der Put
Sandra G. Heil
Publication venue
'S. Karger AG'
Publication date
Field of study
No full text
Crossref
Thiamine (vitamin B1) supplementation does not reduces fasting blood homocysteine concentration in most homozygotes for homocystinuria
Author
Albert Tangerman
Blom
+21 more
Blom
Blom
Boers
Boers
Chris M.G. Thomas
Diana G. Franken
Frans J.M. Trijbels
Gahl
Godfried H.J. Boers
Henk J. Blom
Jones
Livesey
Mudd
Mudd
Scislowski
Tangerman
Tangerman
Tangerman
te Poele-Pothoff
Wielders
Yeaman
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
Application of sepsis calculator in newborns with suspected infection
Author
Babette A. M. Braams-Lisman
Frans B. Plötz
+10 more
Jellina Corver
Kaiser Permanente Division of Research.
Marleen Kerste
Martine C. Sonnevelt
Monique van Brakel
Paul D. van der Linden
Puopolo KM
Puopolo KM.
Trijbels-Smeulders M
Verani J
Publication venue
'Informa UK Limited'
Publication date
Field of study
No full text
Crossref
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy
Author
Barbara Plecko
DC Wallace
+23 more
Edwin Mariman
Frans Trijbels
IM Fearnley
J Loeffen
JAM Smeitink
Jan Loeffen
Jan Smeitink
JM Skehel
L van den Heuvel
Lambert van den Heuvel
M Schuelke
M Schuelke
Markus Schuelke
ME Rubio-Gozalbo
MH Liang
PS Deng
RGH Cotton
SD Patel
SJ Pilkington
Sylvia Stöckler-Ipsiroglu
V Tiranti
Y Hatefi
Z Zhu
Publication venue
'Springer Science and Business Media LLC'
Publication date
Field of study
No full text
Crossref
Prevalence of familial mild hyperhomocysteinemia
Author
Ben C.J. Hamel
Berg
+41 more
Bienvenu
Boers
Boers
Boers
Bostom
Brattström
Brattström
Brattström
Brattström
Clarke
Daly
den Heijer
Diana G. Franken
Dudman
Engbersen
Falcon
Franken
Franken
Franken
Frans J.M. Trijbels
Frosst
Genest
Godfried H.J. Boers
Henk J. Blom
Israelsson
Johannes R.M. Cruysberg
Kang
Kang
Kang
Kluijtmans
Mudd
Reed
Stampfer
te Poele-Pothoff
Ueland
Ueland
Ueland
van den Berg
Whitehead
Williams
Wu
Publication venue
'Elsevier BV'
Publication date
Field of study
No full text
Crossref
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