Works matching IS 01418955 AND DT 1998 AND VI 21 AND IP 6

Results: 21

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