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Zentrum für Kinder- und Jugendmedizin

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Lund, Allan M.; Borgwardt, Line; Cattaneo, Federica et al.

Comprehensive long-term efficacy and safety of recombinant human alpha-mannosidase (velmanase alfa) treatment in patients with alpha-mannosidosisKeywords

JOURNAL OF INHERITED METABOLIC DISEASE. Bd. 41. H. 6. 2018 S. 1225-1233



Beetz, R.

Congenital dilatation of the upper urinary tract. Current diagnostic and treatment concepts

MONATSSCHRIFT KINDERHEILKUNDE. Bd. 166. H. 7. 2018 S. 613-628


Geberhiwot, Tarekegn; Moro, Alessandro; Dardis, Andrea et al.

Consensus clinical management guidelines for Niemann-Pick disease type C

ORPHANET JOURNAL OF RARE DISEASES. Bd. 13. 2018


Lollert, Andre; Emrich, Tilman; Eichstaedt, Jakob et al.

Differences in myocardial strain between pectus excavatum patients and healthy subjects assessed by cardiac MRI: a pilot study

EUROPEAN RADIOLOGY. Bd. 28. H. 3. 2018 S. 1276-1284


Meyerhoff, Nadine; Haffner, Dieter; Staude, Hagen et al.

Effects of growth hormone treatment on adult height in severely short children with X-linked hypophosphatemic rickets

PEDIATRIC NEPHROLOGY. Bd. 33. H. 3. 2018 S. 447-456



Harmatz, Paul; Cattaneo, Federica; Ardigo, Diego et al.

Enzyme replacement therapy with velmanase alfa (human recombinant alpha-mannosidase): Novel global treatment response model and outcomes in patients with alpha-mannosidosis

MOLECULAR GENETICS AND METABOLISM. Bd. 124. H. 2. 2018 S. 152-160


Garne, Ester; Rissmann, Anke; Addor, Marie-Claude et al.

Epidemiology of septo-optic dysplasia with focus on prevalence and maternal age - A EUROCAT study

EUROPEAN JOURNAL OF MEDICAL GENETICS. Bd. 61. H. 9. 2018 S. 483-488


Boyle, B; Addor, MC; Arriola, L et al.

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

Arch Dis Child Fetal Neonatal. Bd. 103. H. 1. 2018 S. F22-F28