Works matching IS 01418955 AND DT 1998 AND VI 21

Results: 197

Molecular analysis of new Japanese patients with holocarboxylase synthetase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 873, doi. 10.1023/A:1005435121933

By:

Sakamoto, O.;
Suzuki, Y.;
Aoki, Y.;
Li, X.;
Hiratsuka, M.;
Yanagihara, K.;
Inui, K.;
Okabe, T.;
Yamaguchi, S.;
Kudoh, J.;
Shimizu, N.;
Narisawa, K.

Publication type:

Article

Novel nucleotide substitutions in mitochondrial DNA.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 871, doi. 10.1023/A:1005483005095

By:

Liang, M.-H.;
Wong, L.-J.

Publication type:

Article

Unusual pure motor axonal neuropathy in a Burmese family with galactosialidosis.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 869, doi. 10.1023/A:1005431021025

By:

Tan, E.;
Wong, M.;
Ng, I.;
Teo, S.;
Lo, Y.;
Cho, M.

Publication type:

Article

N-Acetylglutamate synthetase deficiency: Favourable experience with carbamylglutamate.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 867, doi. 10.1023/A:1005478904186

By:

Morris, A.;
Richmond, S.;
Oddie, S.;
Pourfarzam, M.;
Worthington, V.;
Leonard, J.

Publication type:

Article

Profound neurological phenotype in a patient presenting with disordered isoleucine and energy metabolism.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 864, doi. 10.1023/A:1005426920116

By:

Burlina, A.;
Gibson, K.;
Ruitenbeek, W.;
Bonafè, L.;
Bennett, M.

Publication type:

Article

Cholesterol and oxygenated cholesterol concentrations are markedly elevated in peripheral tissue but not in brain from mice with the Niemann–Pick type C phenotype.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 853, doi. 10.1023/A:1005474803278

By:

Tint, G.;
Pentchev, P.;
Xu, G.;
Batta, A.;
Shefer, S.;
Salen, G.;
Honda, A.

Publication type:

Article

Mutational analyses in four Japanese families with X-linked liver phosphorylase kinase deficiency type 1.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 846, doi. 10.1023/A:1005422819207

By:

Hirono, H.;
Shoji, Y.;
Takahashi, T.;
Sato, W.;
Takeda, E.;
Nishijo, T.;
Kuroda, Y.;
Nishigaki, T.;
Inui, K.;
Takada, G.

Publication type:

Article

Biochemical monitoring of the treatment in paediatric patients with mitochondrial disease.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 837, doi. 10.1023/A:1005470702369

By:

Artuch, R.;
Vilaseca, M.;
Pineda, M.

Publication type:

Article

Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 829, doi. 10.1023/A:1005418718299

By:

Vázquez-Memije, M.;
Shanske, S.;
Santorelli, F.;
Kranz-Eble, P.;
DeVivo, D.;
DiMauro, S.

Publication type:

Article

Four novel mutations at the cystathionine β-synthase locus causing homocystinuria.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 823, doi. 10.1023/A:1005466601461

By:

Coudé, M.;
Aupetit, J.;
Zabot, M.;
Kamoun, P.;
Chadefaux-Vekemans, B.

Publication type:

Article

Does the polymorphism 677C-T of the 5,10-methylenetetrahydrofolate reductase gene contribute to homocysteine-related vascular disease?

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 812, doi. 10.1023/A:1005414617390

By:

Thuillier, L.;
Chadefaux-Vekemans, B.;
Bonnefont, J.;
Kara, A.;
Aupetit, J.;
Rochette, C.;
Montalescot, G.;
Couty, M.;
Kamoun, P.;
Ankri, A.

Publication type:

Article

One-methyl group metabolism in non-ketotic hyperglycinaemia: Mildly elevated cerebrospinal fluid homocysteine levels.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 799, doi. 10.1023/A:1005462400552

By:

Van Hove, J.;
Lazeyras, F.;
Zeisel, S.;
Bottiglieri, T.;
Hyland, K.;
Charles, H.;
Gray, L.;
Jaeken, J.;
Kahler, S.

Publication type:

Article

The success of dietary protein restriction in alkaptonuria patients is age-dependent.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 791, doi. 10.1023/A:1005410416482

By:

de Haas, V.;
Carbasius Weber, E.;
de Klerk, J.;
Bakker, H.;
Smit, G.;
Huijbers, W.;
Duran, M.;
Poll-The, B.

Publication type:

Article

Benefits of normalizing plasma phenylalanine: Impact on behaviour and health. A case report.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 8, p. 785, doi. 10.1023/A:1005482732411

By:

Williams, K.

Publication type:

Article

Erratum.

Published in:: Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 783, doi. 10.1023/A:1017120402285
Publication type:: Article

Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: Identification of two novel mutations.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 781, doi. 10.1023/A:1005405418215

By:

Kurosawa, K.;
Ida, H.;
Eto, Y.

Publication type:

Article

Variables influencing parental perception of inherited metabolic diseases before and after genetic counselling.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 769, doi. 10.1023/A:1005453301377

By:

Saleem, R.;
Gofin, R.;
Ben-Neriah, Z.;
Boneh, A.

Publication type:

Article

Accurate detection of Smith–Lemli–Opitz syndrome carriers by measurement of the rate of reduction of the ergosterol C-7 double bond in cultured skin fibroblasts.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 761, doi. 10.1023/A:1005401317306

By:

Honda, M.;
Tint, G.;
Shefer, S.;
Honda, A.;
Batta, A.;
Xu, G.;
Chen, T.;
Salen, G.

Publication type:

Article

Studies on the oxidation of phytanic acid and pristanic acid in human fibroblasts by acylcarnitine analysis.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 753, doi. 10.1023/A:1005449200468

By:

Verhoeven, N.;
Jakobs, C.;
Ten Brink, H.;
Wanders, R.;
Roe, C.

Publication type:

Article

Diffuse leukodystrophy in an infant with cytochrome-c oxidase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 748, doi. 10.1023/A:1005497116398

By:

Harpey, J-P.;
Heron, D.;
Prudent, M.;
Charpentier, C.;
Rustin, P.;
Ponsot, G.;
Cormier-Daire, V.

Publication type:

Article

Homocystinuria due to cystathionine β-synthase deficiency in Ireland: 25 years' experience of a newborn screened and treated population with reference to clinical outcome and biochemical control.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 738, doi. 10.1023/A:1005445132327

By:

Yap, S.;
Naughten, E.

Publication type:

Article

Renal transplantation in a patient with methylmalonic acidaemia.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 729, doi. 10.1023/A:1005493015489

By:

Van Calcar, S.;
Harding, C.;
Lyne, P.;
Hogan, K.;
Banerjee, R.;
Sollinger, H.;
Rieselbach, R.;
Wolff, J.

Publication type:

Article

The metabolism of phytanic acid and pristanic acid in man: A review.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 7, p. 697, doi. 10.1023/A:1005476631419

By:

Verhoeven, N.;
Wanders, R.;
Poll-The, B.;
Saudubray, J.-M.;
Jakobs, C.

Publication type:

Article

MS-PCR assay to detect 677C→T mutation in the 5,10-methylenetetrahydrofolate reductase gene.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 694, doi. 10.1023/A:1005413524070

By:

Hill, A.;
FitzPatrick, D.

Publication type:

Article

Medium-chain acyl-CoA dehydrogenase deficiency in Spain.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 693, doi. 10.1023/A:1005461407231

By:

Martínez, G.;
Ribes, A.;
Briones, P.;
Rodés, M.;
Baldellou, A.;
Pineda, M.;
Rodrigo, C.;
Lorente, I.;
García-Silva, M.;
Riudor, E.;
Jaraba, P.;
Lopez-Casas, J.;
Nuñez-Roldan, A.

Publication type:

Article

In vivo methods useful for therapy monitoring in lactic acidosis.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 691, doi. 10.1023/A:1005409323161

By:

Schulze, A.;
Mayatepek, E.;
Langhans, C.;
Bachert, P.;
Ruitenbeek, W.;
Rating, D.

Publication type:

Article

Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 690, doi. 10.1023/A:1005457206323

By:

Goyette, P.;
Rosenblatt, D.;
Rozen, R.

Publication type:

Article

A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the α-fucosidase gene.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 688, doi. 10.1023/A:1005405222252

By:

Fleming, C.;
Sinclair, D.;
White, E.;
Winchester, B.;
Whiteford, M.;
Connor, J.

Publication type:

Article

Succinyl-CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 687, doi. 10.1023/A:1005453105414

By:

Rolland, M.;
Guffon, N.;
Mandon, G.;
Divry, P.

Publication type:

Article

A family with Leigh syndrome caused by the rarer T8993C mutation.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 685, doi. 10.1023/A:1005401121344

By:

Chakrapani, A.;
Heptinstall, L.;
Walter, J.

Publication type:

Article

3-Methylglutaconic aciduria associated with hepatosplenomegaly, macrocytic anaemia, fever episodes, recurrent infections, cervical lymphadenopathy and progressive decrease of physical performance.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 683, doi. 10.1023/A:1005449004505

By:

Holtmann, M.;
Galle, P.;
Stremmel, W.;
Mayatepek, E.

Publication type:

Article

Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 681, doi. 10.1023/A:1005496920435

By:

de Koning, T.;
Toet, M.;
Dorland, L.;
de Vries, L.;
van den Berg, I.;
Duran, M.;
Poll-The, B.

Publication type:

Article

Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 679, doi. 10.1023/A:1005444903597

By:

Olcay, L.;
Gümrük, F.;
Boduroğlu, K.;
Coşkun, T.;
Tunçbilek, E.

Publication type:

Article

Adult-onset arginase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 677, doi. 10.1023/A:1005492819527

By:

Cowley, D.;
Bowling, F.;
McGill, J.;
van Dongen, J.;
Morris, D.

Publication type:

Article

Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 675, doi. 10.1023/A:1005440802688

By:

Di Rocco, M.;
Buoncompagni, A.;
Picco, P.;
Vignola, S.;
Borrone, C.

Publication type:

Article

Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 673, doi. 10.1023/A:1005488718618

By:

Riudor, E.;
Arranz, J.;
Anguera, R.;
Salcedo, S.;
Roig, M.;
del Toro, M.;
Bahima, C.;
Martínez, G.;
Ribes, A.;
Vianey-Saban, C.;
Sentís, M.

Publication type:

Article

Hyperinsulinism and hyperammonaemia.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 671, doi. 10.1023/A:1005436701780

By:

Al-Shamsan, L.;
Al-Essa, M.;
Al-Mutair, A.;
Al-Ashwal, A.;
Sakati, N.;
Ozand, P.

Publication type:

Article

Generalized peroxisomal disorder in male twins: Fatty acid composition of serum lipids and response to n−3 fatty acids.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 662, doi. 10.1023/A:1005484617709

By:

Søvik, O.;
Månsson, J.-E.;
Bjørke Monsen, A.-L.;
Jellum, E.;
Berge, R.

Publication type:

Article

Hunter disease in the Spanish population: Molecular analysis in 31 families.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 655, doi. 10.1023/A:1005432600871

By:

Gort, L.;
Chabás, A.;
Coll, M.

Publication type:

Article

Lactic acidosis in long-chain fatty acid β-oxidation disorders.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 645, doi. 10.1023/A:1005480516801

By:

Ventura, F.;
Ruiter, J.;
IJlst, L.;
Tavares de Almeida, I.;
Wanders, R.

Publication type:

Article

Methylmalonic acidaemia with bilateral globus pallidus involvement: A neuropathological study.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 639, doi. 10.1023/A:1005428432730

By:

Larnaout, A.;
Mongalgi, M.;
Kaabachi, N.;
Khiari, D.;
Debbabi, A.;
Mebazza, A.;
Ben Hamida, M.;
Hentati, F.

Publication type:

Article

Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 631, doi. 10.1023/A:1005476315892

By:

Gibson, K.;
Wappner, R.;
Jooste, S.;
Erasmus, E.;
Mienie, L.;
Gerlo, E.;
Desprechins, B.;
De Meirleir, L.

Publication type:

Article

Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 624, doi. 10.1023/A:1005424331822

By:

Abdenur, J.;
Chamoles, N.;
Guinle, A.;
Schenone, A.;
Fuertes, A.

Publication type:

Article

Commentary: Neonatal onset in fatty acid oxidation disorders: How can we minimize morbidity and mortality?

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 619, doi. 10.1023/A:1005436414984

By:

Riudor, E.

Publication type:

Article

Discussion.

Published in:: Journal of Inherited Metabolic Disease, 1998, v. 21, p. 20, doi. 10.1023/A:1017143128132
Publication type:: Article

Preclinical models of behavioural deficits produced by hyperphenylalaninaemia.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, p. 18, doi. 10.1023/A:1005484300929

By:

Puglisi‐Allegra, S.;
Romano, V.

Publication type:

Article

Dietary studies in the PKU mouse model: implications for maternal PKU.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, p. 17, doi. 10.1023/A:1005432316859

By:

McDonald, J. D.

Publication type:

Article

The effect of phenylalanine and its metabolites on neuronal–glial interactions.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, p. 16, doi. 10.1023/A:1005480200020

By:

Kaufman, E.

Publication type:

Article

Genotype–phenotype relationship in PAH deficiency.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, p. 13, doi. 10.1023/A:1005428215950

By:

Romano, V.;
Anello, G.;
Kaufman, S.

Publication type:

Article

Phenylalanine tolerance and metabolism in PKU: impact on newborn and heterozygote screening.

Published in:

Journal of Inherited Metabolic Disease, 1998, v. 21, p. 8, doi. 10.1023/A:1005476131880

By:

Ponzone, A.;
Carbonara, C.;
Spada, M.

Publication type:

Article