Issue 7/2000
Content (16 Articles)
Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants
E. Riudor, J. A. Arranz, M. Rodés, V. Rubio, M. Sentís, A. B. Burlina
Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations
S. Genet, T. Cranston, H. R. Middleton-Price
Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia
C. J. Wilson, K. G. Van Wyk, J. V. Leonard, P. T. Clayton
High plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine disease
D. Skladal, G. Grissenauer, V. Konstantopoulou, S. Felker, W. Sperl
Differentiation of hair growth cycle from scalp hair roots for the diagnosis of glucose-6-phosphate dehydrogenase deficiency in neonates
S.-Y. Lin, D.-M. Niu, M.-J. Li, C.-P. Tu, H.-L. Lin
A serine/alanine polymorphism in the nucleotide-binding fold-2 of the sulphonylurea receptor-1 (S1369A) is associated with enhanced glucose-induced insulin secretion during pregnancy
W. Krugluger, A. Festa, N. Shnawa, J. Bucher, G. Boltz-Nitulescu, G. Schernthaner, P. Hopmeier
Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia
T. M. Wohlers, J. L. Fridovich-Keil
Quantitative measurement of total and free 3-hydroxy fatty acids in serum or plasma samples: short-chain 3-hydroxy fatty acids are not esterified
P. M. Jones, A. B. Burlina, M. J. Bennett
A new case of 2-methylacetoacetyl-CoA thiolase deficiency?
G. Renom, M. Fontaine, M. O. Rolland, J. Duprey, P. M. Degand, D. Dobbelaere
Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion
G. M. Poggi, E. Lamantea, F. Ciani, M. A. Donati, F. Carrara, L. Bartalena, B. Garavaglia, E. Zammarchi
Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies
N. J. Manning, S. E. Olpin, R. J. Pollitt, M. Downing, A. F. Heeley, I. D. Young
Hyperketonaemia in glycerol kinase deficiency
D. R. Sjarif, L. Dorland, W. Sperl, T. J. de Koning, F. A. Beemer, B. T. Poll-The, M. Duran