Works matching IS 01418955 AND DT 1997 AND VI 20 AND IP 5

Results: 25

Infantile sialic acid storage disease diagnosed by gas chromatography - mass spectroscopy analyses of urine sample.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 728, doi. 10.1023/A:1005359417508

By:

Stankovics, J.;
Molnár, D.;
Burus, I.;
Pintér, Z.

Publication type:

Article

Hyperphagia in patients with α-mannosidosis type II.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 727, doi. 10.1023/A:1005307400669

By:

Owayed, A.;
Clarke, J.T.R.

Publication type:

Article

L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 725, doi. 10.1023/A:1005355316599

By:

Wanders, R.J.A.;
Vilarinho, L.;
Hartung, H.P.;
Hoffmann, G.F.;
Mooijer, P.A.W.;
Jansen, G.A.;
Huijmans, J.G.M.;
de Klerk, J.B.C.;
ten Brink, H.J.;
Jakobs, C.;
Duran, M.

Publication type:

Article

Infantile generalized GM1 gangliosidosis: High incidence in the Maltese Islands.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 723, doi. 10.1023/A:1005303332529

By:

Lenicker, H.M.;
Agius, P.;
Young, E.P.;
Montalto, S.P.

Publication type:

Article

Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 721, doi. 10.1023/A:1005351215690

By:

Mayatepek, E.;
Tiepelmann, B.;
Hoffmann, G.F.

Publication type:

Article

Partial epilepsy in a girl with a symptom-free sister: First two Finnish patients with dihydropyrimidine dehydrogenase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 719, doi. 10.1023/A:1005399131620

By:

Holopainen, I.;
Pulkki, K.;
Heinonen, O.J.;
Näntö-Salonen, K.;
Haataja, L.;
Greter, J.;
Holme, E.;
van Kuilenburg, A.B.P.;
Vreken, P.;
van Gennip, A.H.

Publication type:

Article

Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 717, doi. 10.1023/A:1005347114782

By:

Meissner, T.;
Mayatepek, E.

Publication type:

Article

Carnitine-acylcarnitine translocase deficiency - a mild phenotype.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 714, doi. 10.1023/A:1005343013873

By:

Olpin, S.E.;
Bonham, J.R.;
Downing, M.;
Manning, N.J.;
Pollitt, R.J.;
Sharrard, M.J.;
Tanner, M.S.

Publication type:

Article

Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (β-keto)thiolase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 712, doi. 10.1023/A:1005390829803

By:

Gibson, K.;
Feigenbaum, A.

Publication type:

Article

Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 711, doi. 10.1023/A:1005338812965

By:

Yoshino, M.;
Nishiyori, A.;
Koga, Y.;
Mizushima, Y.;
Maeshiro, H.;
Inoue, T.;
Izumi, S.;
Hatase, T.;
Yakushiji, M.;
Kato, H.

Publication type:

Article

Pathological bone fractures preceded by sustained hypercalcaemia in type 1 Gaucher disease.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 709, doi. 10.1023/A:1005386728894

By:

Byrne, C.D.;
Bermann, L.;
Constant, C.;
Cox, T.M.

Publication type:

Article

Biotinidase deficiency with neurological features resembling multiple sclerosis.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 707, doi. 10.1023/A:1005334712056

By:

Tokatlι, A.;
Coşkun, T.;
Özalp, İ.

Publication type:

Article

Cobalamin E (cblE) disease: A severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 705, doi. 10.1023/A:1005382627986

By:

Steen, C.;
Rosenblatt, D.;
Scheying, H.;
Braeuer, H.;
Kohlschütter, A.

Publication type:

Article

Heterogeneous presentation in Leigh syndrome.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 704, doi. 10.1023/A:1005330611147

By:

Vilarinho, L.;
Maia, C.;
Coelho, T.;
Coutinho, P.;
Santorelli, F.

Publication type:

Article

The association between haematological manifestation and mtDNA deletions in Pearson syndrome.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 697, doi. 10.1023/A:1005378527077

By:

Muraki, K.;
Nishimura, S.;
Goto, Y.;
Nonaka, I.;
Sakura, N.;
Ueda, K.

Publication type:

Article

Primary hyperoxaluria type 1: Diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 689, doi. 10.1023/A:1005326510239

By:

Tarn, A.;
von Schnakenburg, C.;
Rumsby, G.

Publication type:

Article

Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation?

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 681, doi. 10.1023/A:1005374426168

By:

Assmann, B.;
Hoffmann, G.;
Wagner, L.;
Bräutigam, C.;
Seyberth, H.;
Duran, M.;
Van Kuilenburg, A.;
Wevers, R.;
Van Gennip, A.

Publication type:

Article

Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 674, doi. 10.1023/A:1005322409330

By:

Marin-Garcia, J.;
Ananthakrishnan, R.;
Goldenthal, M.;
Filiano, J.;
Perez-Atayde, A.

Publication type:

Article

Peroxisomal localization of α-oxidation in human liver.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 665, doi. 10.1023/A:1005370325260

By:

Casteels, M.;
Croes, K.;
Van Veldhoven, P.;
Mannaerts, G.

Publication type:

Article

A new peroxisomal β-oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 658, doi. 10.1023/A:1005318308422

By:

Christensen, E.;
Pedersen, S.;
Leth, H.;
Jakobs, C.;
Schutgens, R.;
Wanders, R.

Publication type:

Article

Human α-galactosidase A: High plasma activity expressed by the -30G→A allele.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 643, doi. 10.1023/A:1005366224351

By:

Fitzmaurice, T.F.;
Desnick, R.J.;
Bishop, D.F.

Publication type:

Article

Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 633, doi. 10.1023/A:1005314207513

By:

Wells, L.;
Fridovich-Keil, J.

Publication type:

Article

Mucolipidosis type IV: Abnormal transport of lipids to lysosomes.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 625, doi. 10.1023/A:1005362123443

By:

Bargal, R.;
Bach, G.

Publication type:

Article

Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 619, doi. 10.1023/A:1005315106604

By:

Guzzetta, V.;
Bonapace, G.;
Dianzani, I.;
Parenti, G.;
Lecora, M.;
Giannattasio, S.;
Concolino, D.;
Strisciuglio, P.;
Sebastio, G.;
Andria, G.

Publication type:

Article

Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine.

Published in:

Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 715, doi. 10.1023/A:1005395030712

By:

Simoni, R.E.;
Honório de Oliveira, C.P.;
Braga, M.J.;
Gayer de Menezes, C.R.;
Llerena Jr, J.C.;
Correia, P.S.;
Santa Rosa, A.A.;
Horovitz, D.G.;
Chaves, C.R.M.;
Costa de Oliveira, M.L.

Publication type:

Article