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Klinik und Poliklinik für Kinder- und Jugendmedizin

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Maekawa, Masamitsu; Narita, Aya; Jinnoh, Isamu et al.

Diagnostic performance evaluation of sulfate-conjugated cholesterol metabolites as urinary biomarkers of Niemann-Pick disease type C

CLINICA CHIMICA ACTA. Bd. 494. 2019 S. 58-63


Weidemann, Frank; Beer, Meinrad; Kralewski, Martina et al.

Early detection of organ involvement in Fabry disease by biomarker assessment in conjunction with LGE cardiac MRI: results from the SOPHIA study

MOLECULAR GENETICS AND METABOLISM. Bd. 126. H. 2. 2019 S. 169-182




Morris, Joan K.; Wellesley, Diana G.; Barisic, Ingeborg et al.

Epidemiology of congenital cerebral anomalies in Europe: a multicentre, population-based EUROCAT study

ARCHIVES OF DISEASE IN CHILDHOOD. Bd. 104. H. 12. 2019 S. 1181-1187


Schmeh, I.; Kidszun, A.; Welk, A. et al.

Evaluation of microbiological screening in a neonatal intensive care unit to optimize empiric antibiotic use

JOURNAL OF HOSPITAL INFECTION. Bd. 101. H. 3. 2019 S. 362-364


Muenzer, Joseph; Burton, Barbara K.; Harmatz, Paul et al.

Evaluation of the long-term treatment effects of idursulfase using statistical modelling: Data from the Hunter Outcome Survey (HOS)

MOLECULAR GENETICS AND METABOLISM. Bd. 126. H. 2. 2019 S. S103-S104


Muschol, Nicole M.; Pape, Daniel; Kossow, Kai et al.

Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)

ORPHANET JOURNAL OF RARE DISEASES. Bd. 14. 2019



Eberle, Birgit; Choukair, Daniela; Vick, Philipp et al.

Identification of TRPC4AP as a novel candidate gene causing thyroid dysgenesis

HORMONE RESEARCH IN PAEDIATRICS. Bd. 91. 2019 S. 35-36