Works matching IS 01418955 AND DT 2002 AND VI 25 AND IP 6
Results: 16
Mutation screening for tyrosinaemia type I.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 523, doi. 10.1023/A:1021275923668
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Unknown peaks in GC-MS analyses of Guthrie cards blood samples might be the result of sample contamination by the black markings of the card.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 522, doi. 10.1023/A:1021223922760
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- Article
Prenatal diagnosis of succinate semialdehyde dehydrogenase deficiency in non-identical twins.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 517, doi. 10.1023/A:1021215605013
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Ramipril treatment in a patient with glycogen storage disease I non-A.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 515, doi. 10.1023/A:1021263504104
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- Article
Selective screening of amino acid disorders in the south-west of Iran, Shiraz.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 519, doi. 10.1023/A:1021219805921
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- Article
A novel mutation in the gene for canine acid β-galactosidase that causes GM1-gangliosidosis in Shiba dogs.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 525, doi. 10.1023/A:1021280007739
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- Article
Mutations in the sterol 27-hydoxylase gene ( CYP27A) cause hepatitis of infancy as well as cerebrotendinous xanthomatosis.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 501, doi. 10.1023/A:1021211520034
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- Article
Niemann–Pick disease type C in adults.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 491, doi. 10.1023/A:1021259403196
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- Article
Glutaric aciduria type III: A distinctive non-disease?
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 483, doi. 10.1023/A:1021207419125
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- Article
2-Methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency in a 23-year-old man.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 477, doi. 10.1023/A:1021251202287
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- Article
CblE type of homocystinuria due to methionine synthase reductase deficiency: Clinical and molecular studies and prenatal diagnosis in two families.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 461, doi. 10.1023/A:1021299117308
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- Article
Introduction of a ketogenic diet in young infants.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 449, doi. 10.1023/A:1021238900470
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- Article
Hartnup disorder: Polymorphisms identified in the neutral amino acid transporter SLC1A5.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 437, doi. 10.1023/A:1021286714582
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- Article
Individual blood–brain barrier phenylalanine transport in siblings with classical phenylketonuria.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 431, doi. 10.1023/A:1021234730512
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- Article
Short-term dietary interventions in children and adolescents with treated phenylketonuria: Effects on neuropsychological outcome of a well-controlled population.
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- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 419, doi. 10.1023/A:1021205713674
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- Article
Erratum.
- Published in:
- Journal of Inherited Metabolic Disease, 2002, v. 25, n. 6, p. 514, doi. 10.1023/A:1021263532425
- Publication type:
- Article