Issue 3/2009
Content (19 Articles)
International Symposium on Pediatric Neurotransmitter Diseases
K. M. Gibson, D. C. De Vivo
The phenotypic spectrum of paediatric neurotransmitter diseases and infantile parkinsonism
R. Pons
Succinic semialdehyde dehydrogenase deficiency: Lessons from mice and men
P. L. Pearl, K. M. Gibson, M. A. Cortez, Y. Wu, O. Carter Snead III, I. Knerr, K. Forester, J. M. Pettiford, C. Jakobs, W. H. Theodore
Sensory integration intervention: Historical concepts, treatment strategies and clinical experiences in three patients with succinic semialdehyde dehydrogenase (SSADH) deficiency
S. V. Kratz
Neuroimaging findings in children with paediatric neurotransmitter diseases
Wang-Tso Lee, Wen-Chin Weng, Shinn-Forng Peng, Kai-Yuan Tzen
Aromatic l-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up
C. Manegold, G. F. Hoffmann, I. Degen, H. Ikonomidou, A. Knust, M. W. Laaß, M. Pritsch, E. Wilichowski, F. Hörster
Increasing physical function through physiatric intervention for children with paediatric neurotransmitter disorders
S. Evans, K. Forester, J. M. Pettiford, O. Morozova
Consideration of gene therapy for paediatric neurotransmitter diseases
Michael Rotstein, Un Jung Kang
Newborn blood spot screening: New opportunities, old problems
R. J. Pollitt
Negative screening tests in classical galactosaemia caused by S135L homozygosity
E. Crushell, J. Chukwu, P. Mayne, J. Blatny, E. P. Treacy
Enzyme analysis for Pompe disease in leukocytes; superior results with natural substrate compared with artificial substrates
O. P. van Diggelen, L. F. Oemardien, N. A. M. E. van der Beek, M. A. Kroos, H. K. Wind, Y. V. Voznyi, D. Burke, M. Jackson, B. G. Winchester, A. J. J. Reuser
The pharmacological chaperone 1-deoxygalactonojirimycin increases α-galactosidase A levels in Fabry patient cell lines
E. R. Benjamin, J. J. Flanagan, A. Schilling, H. H. Chang, L. Agarwal, E. Katz, X. Wu, C. Pine, B. Wustman, R. J. Desnick, D. J. Lockhart, K. J. Valenzano
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease
M. A. Torralba, J. I. Pérez-Calvo
Response to Torralba and Pérez-Calbo
C. Fairley, A. Zimran, M. Phillips, M. Cizmarik, J. Yee, N. Weinreb, S. Packman