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5 research outputs found

Unusual enzyme findings in five patients with metabolic profiles suggestive of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria)

Author: A. Cortez
A. Pijackova
A. Tscharre
B. T. Poll-The
Barker
C. Jakobs
Chambliss
Chambliss
Divry
F. Eyskens
Gibson
Gibson
Gibson
K. M. Gibson
Kappas
Kok
L. Sweetman
M. Duran
Pattarelli
Sweetman
Trettel
V. Kozich
Publication venue: 'Springer Science and Business Media LLC'
Publication date
Field of study

Multiple origins for phenylketonuria in Europe

Author: Apold J
Berencsi G
Boszkowa K
Brdicka R
Cabalska B
Cahalane S
Cerone
Chakraborty R
Cockburn F
Connor J M
Eiken H G
Eisensmith R C
Fekete György
Giovannini M
Gitzelmann R
Guldberg P
Güttler F
Hagenfeldt L
Jin L
Kalinin V N
Kamaryt J
Konecki D S
Lichter Konecki U
Longhi R
Lou H
Lyonnet S
Mullins C
Munnich A
Naughten E R
Nász István
Okano Y
Pembrey M E
Pijackova A
Rey F
Riva E
Romano C
Schuler Dezső
Schwartz E
Smith I
Steinmann B
Svensson E
Wang T
Woo S L C
Özalp I
Publication venue
Publication date: 30/03/2017
Field of study

Semmelweis Repository

Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.

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