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Klinik und Poliklinik für Kinder- und Jugendmedizin

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Berrier, Kathryn L.; Kazi, Zoheb B.; Prater, Sean N. et al.

CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy

GENETICS IN MEDICINE. Bd. 17. H. 11. 2015 S. 912-918


Meyer, Claudius U; Birkholz, Julia; Weins, Nadine et al.

Dendritic cells change IL-27 production pattern during childhood

BMC Research Notes. Bd. 8. H. 06. 2015 S. 232


Vona, B.; Hofrichter, M. A. H.; Neuner, C. et al.

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

CLINICAL GENETICS. Bd. 87. H. 1. 2015 S. 49-55


Vona, B.; Hofrichter, M. A. H.; Neuner, C. et al.

DFNB16 is a frequent cause of congenital hearing impairment: implementation of STRC mutation analysis in routine diagnostics

CLINICAL GENETICS. Bd. 87. H. 1. 2015 S. 49-55



Kampmann, Christoph; Perrin, Amandine; Beck, Michael

Effectiveness of agalsidase alfa enzyme replacement in Fabry disease: cardiac outcomes after 10 years' treatment

ORPHANET JOURNAL OF RARE DISEASES. Bd. 10. 2015


Osman, Abdimajid; Hitzler, Walter E.; Meyer, Claudius U. et al.

Effects of pathogen reduction systems on platelet microRNAs, mRNAs, activation, and function

PLATELETS. Bd. 26. H. 2. 2015 S. 154-163


Schwahn, Bernd C.; Van Spronsen, Francjan J.; Belaidi, Abdel A. et al.

Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study

LANCET. Bd. 386. H. 10007. 2015 S. 1955-1963


Rojas-Caro, S.; Baric, I.; Camarena Grande, C. et al.

EFFICACY AND SAFETY OF SEBELIPASE ALFA IN CHILDREN AND ADULTS WITH LYSOSOMAL ACID LIPASE DEFICIENCY: RESULTS OF A PHASE 3 TRIAL

JOURNAL OF HEPATOLOGY. Bd. 62. 2015 S. S811-S811


Lelieveld, Irene M.; Böttcher, Anna; Hennermann, Julia B. et al.

Eight-year follow-up of neuropsychiatric symptoms and brain structural changes in Fabry disease

PLoS one. Bd. 10. H. 9. Lawrence, Kan.: PLoS 2015 e0137603