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S. Schweitzer
S. Schweitzer
Boston Children's Hospital
Biotinidase deficiency
Biotinidase
Internal medicine
Endocrinology
Biotin
3
Papers
72
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Seventeen novel mutations that cause profound biotinidase deficiency
2002
Molecular Genetics and Metabolism
Barry Wolf
Kevin P. Jensen
Hüner G
M. Demirkol
T. Baykal
P. Divry
M.O. Rolland
Celia Pérez-Cerdá
Magdalena Ugarte
R Straussberg
L Basel-Vanagaite
E. R. Baumgartner
Terttu Suormala
S Scholl
Anibh M. Das
S. Schweitzer
E. Pronicka
J. Sykut-Cegielska
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Citations (27)
Biotinidase Km-variants: detection and detailed biochemical investigations.
1995
Journal of Inherited Metabolic Disease
Terttu Suormala
Vincent Ramaekers
S. Schweitzer
Brian Fowler
M. C. Laub
C. Schwermer
J Bachmann
E. R. Baumgartner
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Citations (15)
Comparison of patients with complete and partial biotinidase deficiency: Biochemical studies
1990
Journal of Inherited Metabolic Disease
Terttu Suormala
E. R. Baumgartner
H. Wick
Susanne Scheibenreiter
S. Schweitzer
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Citations (30)
1