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.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 728, doi. 10.1023/A:1005359417508
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Hyperphagia in patients with α-mannosidosis type II.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 727, doi. 10.1023/A:1005307400669
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L-2-Hydroxyglutaric aciduria: Normal L-2-hydroxyglutarate dehydrogenase activity in liver from two new patients.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 725, doi. 10.1023/A:1005355316599
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Infantile generalized GM1 gangliosidosis: High incidence in the Maltese Islands.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 723, doi. 10.1023/A:1005303332529
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Enhanced excretion of urinary leukotriene E4 in mevalonic aciduria is not caused by an impaired peroxisomal degradation of cysteinyl leukotrienes.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 721, doi. 10.1023/A:1005351215690
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Partial epilepsy in a girl with a symptom-free sister: First two Finnish patients with dihydropyrimidine dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 719, doi. 10.1023/A:1005399131620
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Sarcosinaemia in a patient with severe progressive neurological damage and hypertrophic cardiomyopathy.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 717, doi. 10.1023/A:1005347114782
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Carnitine-acylcarnitine translocase deficiency - a mild phenotype.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 714, doi. 10.1023/A:1005343013873
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Phenotypically mild presentation in a patient with 2-methylacetoacetyl-coenzyme A (β-keto)thiolase deficiency.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 712, doi. 10.1023/A:1005390829803
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Potential pitfall of prenatal enzymatic diagnosis of carbamoyl-phosphate synthetase I deficiency.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 711, doi. 10.1023/A:1005338812965
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Pathological bone fractures preceded by sustained hypercalcaemia in type 1 Gaucher disease.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 709, doi. 10.1023/A:1005386728894
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Biotinidase deficiency with neurological features resembling multiple sclerosis.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 707, doi. 10.1023/A:1005334712056
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Cobalamin E (cblE) disease: A severe neurological disorder with megaloblastic anaemia, homocystinuria and low serum methionine.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 705, doi. 10.1023/A:1005382627986
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Heterogeneous presentation in Leigh syndrome.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 704, doi. 10.1023/A:1005330611147
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The association between haematological manifestation and mtDNA deletions in Pearson syndrome.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 697, doi. 10.1023/A:1005378527077
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Primary hyperoxaluria type 1: Diagnostic relevance of mutations and polymorphisms in the alanine:glyoxylate aminotransferase gene (AGXT).
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 689, doi. 10.1023/A:1005326510239
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Dihydropyridmidinase deficiency and congenital microvillous atrophy: Coincidence or genetic relation?
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 681, doi. 10.1023/A:1005374426168
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Cardiac mitochondrial dysfunction and DNA depletion in children with hypertrophic cardiomyopathy.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 674, doi. 10.1023/A:1005322409330
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Peroxisomal localization of α-oxidation in human liver.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 665, doi. 10.1023/A:1005370325260
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A new peroxisomal β-oxidation disorder in twin neonates: Defective oxidation of both cerotic and pristanic acids.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 658, doi. 10.1023/A:1005318308422
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Human α-galactosidase A: High plasma activity expressed by the -30G→A allele.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 643, doi. 10.1023/A:1005366224351
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Biochemical characterization of the S135L allele of galactose-1-phosphate uridylyltransferase associated with galactosaemia.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 633, doi. 10.1023/A:1005314207513
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Mucolipidosis type IV: Abnormal transport of lipids to lysosomes.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 625, doi. 10.1023/A:1005362123443
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Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 619, doi. 10.1023/A:1005315106604
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Hyperargininaemia: A late-diagnosed Brazilian case with increased urinary excretion of homocystine.
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- Journal of Inherited Metabolic Disease, 1997, v. 20, n. 5, p. 715, doi. 10.1023/A:1005395030712
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