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Klinik und Poliklinik für Kinder- und Jugendmedizin

Klinikum / Johannes Gutenberg-Universität Mainz

Publikationen
Ergebnisse pro Seite:  10

Wood, Timothy C.; Harvey, Katie; Beck, Michael et al.

Diagnosing mucopolysaccharidosis IVA

JOURNAL OF INHERITED METABOLIC DISEASE. Bd. 36. H. 2. 2013 S. 293-307


Schueller, A.; Kornblum, C.; Deschauer, M. et al.

Diagnosis and therapy of late onset Pompe disease

NERVENARZT. Bd. 84. H. 12. 2013 S. 1467-1472


Beetz, R.; Wagenlehner, F.

Diagnostics and therapy of urinary tract infections

UROLOGE. Bd. 52. H. 1. 2013 S. 21-+



Patterson, Marc C.; Mengel, Eugen; Wijburg, Frits A. et al.

Disease and patient characteristics in NP-C patients: findings from an international disease registry

ORPHANET JOURNAL OF RARE DISEASES. Bd. 8. 2013


Patterson, Marc C.; Mengel, Eugen; Wijburg, Frits A. et al.

Disease and patient characteristics in NP-C patients: findings from an international disease registry (vol 8, pg 73, 2013)

ORPHANET JOURNAL OF RARE DISEASES. Bd. 8. 2013


Borgwardt, L.; Dali, C. I.; Fogh, J. et al.

Enzyme replacement therapy for alpha-mannosidosis: 12 months follow-up of a single centre, randomised, multiple dose study

JOURNAL OF INHERITED METABOLIC DISEASE. Bd. 36. H. 6. 2013 S. 1015-1024


Braunlin, E.; Rosenfeld, H.; Kampmann, C. et al.

Enzyme replacement therapy for mucopolysaccharidosis VI: long-term cardiac effects of galsulfase (Naglazyme (R)) therapy

JOURNAL OF INHERITED METABOLIC DISEASE. Bd. 36. H. 2. 2013 S. 385-394


Whiteman, David; Heiberg, Arvid; Lampe, Christina

Enzyme replacement therapy in MPS II patients over 20 years of age or older at treatment initiation: An international case series from the Hunter Outcome Survey (HOS)

MOLECULAR GENETICS AND METABOLISM. Bd. 108. H. 2. 2013 S. S98-S98


Dellee, Ursula; Tobias, Silke; Li, Huige et al.

Expression of NO synthases and redox enzymes in umbilical arteries from newborns born small, appropriate, and large for gestational age

PEDIATRIC RESEARCH. Bd. 73. H. 2. 2013 S. 142-146