Issue 5/2003
Content (10 Articles)
Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria
A. P. Burlina, R. Manara, M. Calderone, S. Catuogno, A. B. Burlina
The mitochondrial acetoacetyl-CoA thiolase (T2) deficiency in Japanese patients: urinary organic acid and blood acylcarnitine profiles under stable conditions have subtle abnormalities in T2-deficient patients with some residual T2 activity
T. Fukao, G.-X. Zhang, N. Sakura, T. Kubo, H. Yamaga, A. Hazama, Y. Kohno, N. Matsuo, M. Kondo, S. Yamaguchi, Y. Shigematsu, N. Kondo
Biochemical and molecular analyses in three patients with 3-hydroxy-3-methylglutaric aciduria
E. Pospíšilová, L. Mrázová, J. Hrdá, O. Martincová, J. Zeman
Maternal methionine adenosyltransferase I/III deficiency: Reproductive outcomes in a woman with four pregnancies
S. H. Mudd, A. Tangerman, S. P. Stabler, R. H. Allen, C. Wagner, S. H. Zeisel, H. L. Levy
Renal excretion of galactose and galactitol in patients with classical galactosaemia, obligate heterozygous parents and healthy subjects
P. Schadewaldt, S. Killius, L. Kamalanathan, H.-W. Hammen, K. Straßburger, U. Wendel
Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: A new phenotype of mtDNA depletion syndrome
S. Yano, L. Li, T. P. Le, K. Moseley, A. Guedalia, J. Lee, I. Gonzalez, R. G. Boles
A model of mucopolysaccharidosis IIIB (Sanfilippo syndrome type IIIB): N-acetyl-α-D-glucosaminidase deficiency in Schipperke dogs
N. M. Ellinwood, P. Wang, T. Skeen, N. J. H. Sharp, M. Cesta, S. Decker, N. J. Edwards, I. Bublot, J. N. Thompson, W. Bush, E. Hardam, M. E. Haskins, U. Giger
Primary pyruvate dehydrogenase E3 binding protein deficiency with mild hyperlactataemia and hyperalaninaemia
I. P. Hargreaves, S. J. R. Heales, A. Briddon, P. J. Lee, M. G. Hanna, J. M. Land
Genotype–phenotype correlation in the 5703G>A mutation in the tRNAAsn gene of mitochondrial DNA
C. Vives-Bauza, M. Del Toro, A. Solano, J. Montoya, A. L. Andreu, M. Roig
Isolated thrombosis due to the cystathionine β-synthase mutation c.833T>C (I278T)
M. Linnebank, R. Junker, D. G. Nabavi, A. Linnebank, H. G. Koch