Issue 4/2001
Content (14 Articles)
Effects of dietary cholesterol restriction in a feline model of Niemann–Pick type C disease
K. L. Somers, D. E. Brown, R. Fulton, P. C. Schultheiss, D. Hamar, M. O. Smith, R. Allison, H. E. Connally, C. Just, T. W. Mitchell, D. A. Wenger, M. A. Thrall
The intellectual abilities of early-treated individuals with pyridoxine-nonresponsive homocystinuria due to cystathionine β-synthase deficiency
S. Yap, H. Rushe, P. M. Howard, E. R. Naughten
Glycine N -methyltransferase deficiency: A novel inborn error causing persistent isolated hypermethioninaemia
S. H. Mudd, R. Cerone, M. C. Schiaffino, A. R. Fantasia, G. Minniti, U. Caruso, R. Lorini, D. Watkins, N. Matiaszuk, D. S. Rosenblatt, B. Schwahn, R. Rozen, L. LeGros, M. Kotb, A. Capdevila, Z. Luka, J. D. Finkelstein, A. Tangerman, S. P. Stabler, R. H. Allen, C. Wagner
Oxidation of galactose by galactose-1-phosphate uridyltransferase-deficient lymphoblasts
C. Yager, J. Gibson, B. States, L. J. Elsas, S. Segal
Congenital disorders of glycosylation type Ia and IIa are associated with different primary haemostatic complications
C. Van Geet, J. Jaeken, K. Freson, T. Lenaerts, J. Arnout, J. Vermylen, M. F. Hoylaerts
Polyunsaturated fatty acid deficiency during dietary treatment of very long-chain acyl-CoA dehydrogenase deficiency. Rescue with soybean oil
J. I. Ruiz-Sanz, L. Aldamiz-Echevarria, J. Arrizabalaga, L. Aquino, P. Jimeno, G. Pérez-Nanclares, P. Sanjurjo
CASE REPORT: Early-onset lysosomal glycogen storage disease with normal acid maltase
R. M. Dayan, D. L. Renaud
CASE REPORT: Partial effect of bromocriptine on lactose and galactose synthesis in a pregnant woman heterozygous for galactosaemia
M. Odièvre, M. Brivet, M-F. Rivière, P. Labrune
CASE REPORT: CblC/D defect combined with haemodynamically highly relevant VSD
M. Tomaske, A. Bosk, M. K. Heinemann, L. Sieverding, E. R. Baumgartner, B. Fowler, F. K. Trefz
SHORT REPORT: Pitfalls in the detection of heterozygosity by allopurinol in a variant form of ornithine carbamoyltransferase deficiency
B. A. Barshop, W. L. Nyhan, C. Climent, V. Rubio
SHORT REPORT: PKU adults and their return to diet: Predicting diet continuation and maintenance
L. Finkelson, I. Bailey, S. E. Waisbren
SHORT REPORT: A common 2 bp deletion mutation in the glucose-6-phosphatase gene in Indian patients with glycogen storage disease type Ia
C. Meaney, T. Cranston, P. Lee, S. Genet