Issue 1/2005
Content (14 Articles)
Preimplantation diagnosis of a lysosomal storage disorder by in situ enzymatic activity: ‘Proof of principle’ in acid sphingomyelinase-deficient mice
A. Butler, S. C. Henderson, R. E. Gordon, A. Dagan, S. Gatt, E. H. Schuchman
Plasma chitotriosidase and CCL18: Early biochemical surrogate markers in type B Niemann-Pick disease
J. Brinkman, F. A. Wijburg, C. E. Hollak, J. E. Groener, M. Verhoek, S. Scheij, J. Aten, R. G. Boot, J. M. Aerts
Monitoring enzyme replacement therapy in Fabry disease—Role of urine globotriaosylceramide
P. D. Whitfield, J. Calvin, S. Hogg, E. O’Driscoll, D. Halsall, K. Burling, G. Maguire, N. Wright, T. M. Cox, P. J. Meikle, P. B. Deegan
Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease
K. Mills, P. Morris, P. Lee, A. Vellodi, S. Waldek, E. Young, B. Winchester
Two Japanese brothers with hereditary γ-glutamyl transpeptidase deficiency
M. Iida, T. Yasuhara, H. Mochizuki, H. Takakura, T. Yanagisawa, H. Kubo
Promotion of oxidative stress by 3-hydroxyglutaric acid in rat striatum
A. Latini, K. Scussiato, G. Leipnitz, C. S. Dutra-Filho, M. Wajner
Vitamin D status in patients affected by Smith-Lemli-Opitz syndrome
M. Rossi, G. Federico, G. Corso, G. Parenti, A. Battagliese, A. R. Frascogna, R. della Casa, A. Dello Russo, P. Strisciuglio, G. Saggese, G. Andria
Glutathione deficiency in patients with mitochondrial disease: Implications for pathogenesis and treatment
I. P. Hargreaves, Y. Sheena, J. M. Land, S. J. R. Heales
Screening for Menkes disease using the urine HVA/VMA ratio
M. Matsuo, R. Tasaki, H. Kodama, Y. Hamasaki
Increasing fat in the diet does not improve muscle performance in patients with mitochondrial myopathy due to complex I deficiency
K. de Meer, M. J. Roef, J. B. C. de Klerk, H. D. Bakker, G. P. A. Smit, B. T. Poll-The
Severe hyperhomocysteinaemia and 5-oxoprolinuria secondary to antiproliferative and antimicrobial drug treatment
B. Schwahn, G. Kameda, R. Wessalowski, E. Mayatepek
Successful treatment of severe cardiomyopathy with NTBC in a child with tyrosinaemia type I
N. André, B. Roquelaure, V. Jubin, C. Ovaert