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.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 694, doi. 10.1023/A:1005413524070
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- Article
Medium-chain acyl-CoA dehydrogenase deficiency in Spain.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 693, doi. 10.1023/A:1005461407231
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- Article
In vivo methods useful for therapy monitoring in lactic acidosis.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 691, doi. 10.1023/A:1005409323161
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- Article
Homocystinuria (methylenetetrahydrofolate reductase deficiency) and mutation of factor V gene.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 690, doi. 10.1023/A:1005457206323
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- Article
A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the α-fucosidase gene.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 688, doi. 10.1023/A:1005405222252
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- Article
Succinyl-CoA:acetoacetate transferase deficiency. Identification of a new case; prenatal exclusion in three further pregnancies.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 687, doi. 10.1023/A:1005453105414
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- Article
A family with Leigh syndrome caused by the rarer T8993C mutation.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 685, doi. 10.1023/A:1005401121344
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- Article
3-Methylglutaconic aciduria associated with hepatosplenomegaly, macrocytic anaemia, fever episodes, recurrent infections, cervical lymphadenopathy and progressive decrease of physical performance.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 683, doi. 10.1023/A:1005449004505
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Recurrent nonimmune hydrops fetalis associated with carbohydrate-deficient glycoprotein syndrome.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 681, doi. 10.1023/A:1005496920435
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- Article
Anaemia and thrombocytopenia due to haemophagocytosis in a 7-month-old boy with galactosialidosis.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 679, doi. 10.1023/A:1005444903597
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Adult-onset arginase deficiency.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 677, doi. 10.1023/A:1005492819527
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- Article
Complications of lysinuric protein intolerance must be treated with immunosuppressive drugs.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 675, doi. 10.1023/A:1005440802688
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- Publication type:
- Article
Neonatal medium-chain acyl-CoA dehydrogenase deficiency presenting with very high creatine kinase levels.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 673, doi. 10.1023/A:1005488718618
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- Article
Hyperinsulinism and hyperammonaemia.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 671, doi. 10.1023/A:1005436701780
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- Article
Generalized peroxisomal disorder in male twins: Fatty acid composition of serum lipids and response to n−3 fatty acids.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 662, doi. 10.1023/A:1005484617709
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- Article
Hunter disease in the Spanish population: Molecular analysis in 31 families.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 655, doi. 10.1023/A:1005432600871
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- Article
Lactic acidosis in long-chain fatty acid β-oxidation disorders.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 645, doi. 10.1023/A:1005480516801
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- Article
Methylmalonic acidaemia with bilateral globus pallidus involvement: A neuropathological study.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 639, doi. 10.1023/A:1005428432730
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- Article
Variable clinical presentation in three patients with 3-methylglutaconyl-coenzyme A hydratase deficiency.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 631, doi. 10.1023/A:1005476315892
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- Article
Diagnosis of isovaleric acidaemia by tandem mass spectrometry: False positive result due to pivaloylcarnitine in a newborn screening programme.
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 624, doi. 10.1023/A:1005424331822
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- Article
Commentary: Neonatal onset in fatty acid oxidation disorders: How can we minimize morbidity and mortality?
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- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 6, p. 619, doi. 10.1023/A:1005436414984
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- Article