Works matching IS 01418955 AND DT 2000 AND VI 23 AND IP 7

Results: 16

High plasma leucine concentrations without neurological symptoms in a patient with classical maple syrup urine disease.

Published in:

2000

By:

Skladal, D.;
Grissenauer, G.;
Konstantopoulou, V.;
Felker, S.;
Sperl, W.

Publication type:

Correction Notice

Hyperketonaemia in glycerol kinase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 760, doi. 10.1023/A:1005680211483

By:

Sjarif, D.;
Dorland, L.;
Sperl, W.;
de Koning, T.;
Beemer, F.;
Poll-The, B.;
Duran, M.

Publication type:

Article

Fumarate hydratase deficiency: increased fumaric acid in amniotic fluid of two affected pregnancies.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 757, doi. 10.1023/A:1005667906032

By:

Manning, N.;
Olpin, S.;
Pollitt, R.;
Downing, M.;
Heeley, A.;
Young, I.

Publication type:

Article

Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 755, doi. 10.1023/A:1005663804214

By:

Poggi, G.;
Lamantea, E.;
Ciani, F.;
Donati, M.;
Carrara, F.;
Bartalena, L.;
Garavaglia, B.;
Zammarchi, E.

Publication type:

Article

Early onset of complete heart block in Pearson syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 753, doi. 10.1023/A:1005611803306

By:

Rahman, S.;
Leonard, J.

Publication type:

Article

A new case of 2-methylacetoacetyl-CoA thiolase deficiency?

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 751, doi. 10.1023/A:1005655619236

By:

Renom, G.;
Fontaine, M.;
Rolland, M.;
Duprey, J.;
Degand, P.;
Dobbelaere, D.

Publication type:

Article

Quantitative measurement of total and free 3-hydroxy fatty acids in serum or plasma samples: short-chain 3-hydroxy fatty acids are not esterified.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 745, doi. 10.1023/A:1005643201489

By:

Jones, P.;
Burlina, A.;
Bennett, M.

Publication type:

Article

Microphotometric analysis of NADH-tetrazolium reductase deficiency in fibroblasts of patients with Leber hereditary optic neuropathy.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 730, doi. 10.1023/A:1005687031531

By:

Malik, S.;
Sudoyo, H.;
Marzuki, S.

Publication type:

Article

Studies of the V94M-substituted human UDPgalactose-4-epimerase enzyme associated with generalized epimerase-deficiency galactosaemia.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 713, doi. 10.1023/A:1005682913784

By:

Wohlers, T.;
Fridovich-Keil, J.

Publication type:

Article

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.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 705, doi. 10.1023/A:1005630912875

By:

Krugluger, W.;
Festa, A.;
Shnawa, N.;
Bucher, J.;
Boltz-Nitulescu, G.;
Schernthaner, G.;
Hopmeier, P.

Publication type:

Article

Differentiation of hair growth cycle from scalp hair roots for the diagnosis of glucose-6-phosphate dehydrogenase deficiency in neonates.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 693, doi. 10.1023/A:1005622728805

By:

Lin, S.-Y.;
Niu, D.-M.;
Li, M.-J.;
Tu, C.-P.;
Lin, H.-L.

Publication type:

Article

Effects of ethanol and of alcohol dehydrogenase inhibitors on the reduction of N-acetylaspartate levels of brain in mice in vivo: a search for substances that may have therapeutic value in the treatment of Canavan disease.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 684, doi. 10.1023/A:1005618526988

By:

Baslow, M.;
Suckow, R.;
Hungund, B.

Publication type:

Article

Phenylalanine supplementation improves the phenylalanine profile in tyrosinaemia.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 677, doi. 10.1023/A:1005666426079

By:

Wilson, C.;
Van Wyk, K.;
Leonard, J.;
Clayton, P.

Publication type:

Article

Mutation detection in 65 families with a possible diagnosis of ornithine carbamoyltransferase deficiency including 14 novel mutations.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 669, doi. 10.1023/A:1005614409241

By:

Genet, S.;
Cranston, T.;
Middleton-Price, H.

Publication type:

Article

Influence of dose and age on the response of the allopurinol test for ornithine carbamoyltransferase deficiency in control infants.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 662, doi. 10.1023/A:1005610325170

By:

Riudor, E.;
Arranz, J.;
Rodés, M.;
Rubio, V.;
Sentís, M.;
Burlina, A.

Publication type:

Article

Erythropoietic and hepatic porphyrias.

Published in:

Journal of Inherited Metabolic Disease, 2000, v. 23, n. 7, p. 641, doi. 10.1023/A:1005645624262

By:

Gross, U.;
Hoffmann, G.;
Doss, M.

Publication type:

Article