Works matching IS 01418955 AND DT 1998 AND VI 21 AND IP 1
Results: 21
Functions and Biogenesis of Peroxisomes in Relation to Human Disease.
- Published in:
- 1998
- By:
- Publication type:
- Book Review
Robert Guthrie - the PKU Story. Crusade Against Mental Retardation. Jean Holt Koch.
- Published in:
- 1998
- By:
- Publication type:
- Book Review
Preface.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 1, doi. 10.1023/A:1017118409843
- Publication type:
- Article
Increased urine methylmalonic acid excretion in infants with apnoeas.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 86, doi. 10.1023/A:1005383919335
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- Publication type:
- Article
Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 84, doi. 10.1023/A:1005331902497
- By:
- Publication type:
- Article
Increase in leukocyte alkaline phosphatase in a patient with hypophosphatasia during pregnancy.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 83, doi. 10.1023/A:1005379818426
- By:
- Publication type:
- Article
In vivo NMR spectroscopy in patients with phenylketonuria: Clinical significance of interindividual differences in brain phenylalanine concentrations.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 81, doi. 10.1023/A:1005327801588
- By:
- Publication type:
- Article
Increased resting energy expenditure in glycogen storage disease type Ia.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 80, doi. 10.1023/A:1005375717518
- By:
- Publication type:
- Article
Phosphomannomutase deficiency and normal pubertal development.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 78, doi. 10.1023/A:1005323700680
- By:
- Publication type:
- Article
Fatal neonatal malonic aciduria.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 76, doi. 10.1023/A:1005371616609
- By:
- Publication type:
- Article
Neurological outcome of a patient with Gaucher disease type III treated by enzymatic replacement therapy.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 74, doi. 10.1023/A:1005319632539
- By:
- Publication type:
- Article
Complex I deficiency in association with structural abnormalities of the diaphragm and brain.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 72, doi. 10.1023/A:1005367515701
- By:
- Publication type:
- Article
Symptomatic ornithine carbamoyltransferase deficiency (point mutation H202P) with normal in vitro activity.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 71, doi. 10.1023/A:1005315531630
- By:
- Publication type:
- Article
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease).
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 60, doi. 10.1023/A:1005363414792
- By:
- Publication type:
- Article
Oligosaccharide excretion in adult Gaucher disease.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 49, doi. 10.1023/A:1005311430722
- By:
- Publication type:
- Article
Neonatal neurological assessment of offspring in maternal phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 39, doi. 10.1023/A:1005359313883
- By:
- Publication type:
- Article
Neuropsychological outcome of experimental manipulation of phenylalanine intake in treated phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 29, doi. 10.1023/A:1005307229813
- By:
- Publication type:
- Article
Amino acid and nucleotide sequences of human peroxisomal enoyl-CoA hydratase : 3-hydroxyacyl-CoA dehydrogenase cDNA.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 23, doi. 10.1023/A:1005355112975
- By:
- Publication type:
- Article
The association of protein-losing enteropathy with cobalamin C defect.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 17, doi. 10.1023/A:1005303128904
- By:
- Publication type:
- Article
Pyruvate dehydrogenase complex deficiency and absence of subunit X.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 9, doi. 10.1023/A:1005351012066
- By:
- Publication type:
- Article
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
- Published in:
- Journal of Inherited Metabolic Disease, 1998, v. 21, n. 1, p. 2, doi. 10.1023/A:1005397227996
- By:
- Publication type:
- Article