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Search Results - Blau, CW
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Functional bolus-tracking arterial spin labeling: a new approach to quantitative fMRI
by
Kelly, ME
,
Blau, CW
,
Gobbo, OL
,
Griffin, KM
,
Jones, JF
,
Kerskens, CM
Published in
NeuroImage (Orlando, Fla.)
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Evaluation of Urinary Acylglycines by Electrospray Tandem Mass Spectrometry in Mitochondrial Energy Metabolism Defects and Organic Acidurias
by
Bonafé, Luisa
,
Troxler, Heinz
,
Kuster, Thomas
,
Heizmann, Claus W.
,
Chamoles, Néstor A.
,
Burlina, Alberto B.
,
Blau, Nenad
Published in
Molecular genetics and metabolism
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Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence
by
HAUER, C. R
,
REBRIN, I
,
THÖNY, B
,
NEUHEISER, F
,
CURTIUS, H.-C
,
HUNZIKER, P
,
BLAU, N
,
GHISLA, S
,
HEIZMANN, C. W
Published in
The Journal of biological chemistry
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Optimization of industrial scale scheduling problems in new product development
by
Schmidt, Craig W.
,
Grossmann, Ignacio E.
,
Blau, Gary E.
Published in
Computers & chemical engineering
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Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism : molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase
by
THÖNY, B
,
LEIMBACHER, W
,
BLAU, N
,
HARVIE, A
,
HEIZMANN, C. W
Published in
American journal of human genetics
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Characterization of the Human PCBD Gene Encoding the Bifunctional Protein Pterin-4α-carbinolamine Dehydratase/Dimerization Cofactor for the Transcription Factor Hnf-1α
by
Thony, B.
,
Neuheiser, F.
,
Blau, N.
,
Heizmann, C.W.
Published in
Biochemical and biophysical research communications
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Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families
by
Oppliger, Tanja
,
Thöny, Beat
,
Kluge, Claudia
,
Matasovic, Ana
,
Heizmann, Claus W.
,
Ponzone, Alberto
,
Spada, Marco
,
Blau, Nenad
Published in
Human mutation
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A missense mutation in a patient with guanosine triphosphate cyclohydrolase I deficiency missed in the newborn screening program
by
Blau, N.
,
Ichinose, H.
,
Nagatsu, T.
,
Heizmann, C.W.
,
Zacchello, F.
,
Burlina, A.B.
Published in
The Journal of pediatrics
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Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo act...
by
Oppliger, T
,
Thöny, B
,
Nar, H
,
Bürgisser, D
,
Huber, R
,
Heizmann, C W
,
Blau, N
Published in
The Journal of biological chemistry
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Isolation of 6-Pyruvoyl-tetrahydropterin Synthase cDNAs from Human Brain
by
Kluge, Claudia
,
Leimbacher, Walter
,
Heizmann, Claus W.
,
Blau, Nenad
,
Thöny, Beat
Published in
Pteridines
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Mutation Analysis In Patients with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
by
Oppliger, Tanja
,
Thony, Beat
,
Leimbacher, Walter
,
Scheibenreiter, Susanne
,
Brandt, Niels Jacob
,
Heizmann, Claus W.
,
Blau, Nenad
Published in
Pteridines
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Tetrahydrobiopterin Loading Test in Xanthine Dehydrogenase and Molybdenum Cofactor Deficiencies
by
Blau, N.
,
de Klerk, J.B.C.
,
Thöny, B.
,
Heizmann, C.W.
,
Kierat, L.
,
Smeitink, J.A.M.
,
Duran, M.
Published in
Biochemical and molecular medicine
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