Metabolism at a Glance, 2nd Edition. J.G. Salway.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 914, doi. 10.1023/A:1005641407072
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Works matching IS 01418955 AND DT 1999 AND VI 22 AND IP 8
Results: 23
1
2
Subject Index to Volume 22.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 958, doi. 10.1023/A:1017288802140
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- Article
3
Author Index to Volume 22.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 953, doi. 10.1023/A:1017273201231
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- Article
4
Atlas of Common Lysosomal and Peroxisomal Disorders. by Mohammed A. Al-Essa, Pinar T. Ozand.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 914, doi. 10.1023/A:1005628500322
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- Article
5
Towards metabolic sink therapy for mut methylmalonic acidaemia: Retrovirus-mediated transfer of the human methylmalonyl-CoA mutase cDNA into peripheral blood progenitor cells of a child with mut methylmalonic acidaemia.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 951, doi. 10.1023/A:1005624415344
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- Article
6
Normal kynurenine metabolism in 2-oxoadipic aciduria.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 949, doi. 10.1023/A:1005672314435
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- Article
7
Analysis of three mutations in Turkish children with Gaucher disease.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 947, doi. 10.1023/A:1005668230365
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- Article
8
Novel mitochondrial 16S rRNA polymorphism in a girl with Rett syndrome.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 946, doi. 10.1023/A:1005616229456
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- Article
9
Galactosaemia presenting as congenital pseudoafibrinogenaemia.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 943, doi. 10.1023/A:1005660011709
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- Article
10
Urinary excretion of Krebs cycle metabolites in a 13-year-old girl.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 945, doi. 10.1023/A:1005612112618
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- Article
11
Adult carnitine palmitoyltransferase II deficiency: Detection of characteristic carnitine esters in serum by tandem mass spectrometry.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 941, doi. 10.1023/A:1005655927639
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12
Slow segregation and rapid shift to homoplasmy coexist in a family with the T8993>G mutation.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 939, doi. 10.1023/A:1005603926730
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- Article
13
Hypercalcaemia in glycogen storage disease type Ia: A case with R83H and 341delG mutations.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 937, doi. 10.1023/A:1005651809892
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14
Retrospective diagnosis of carbohydrate-deficient glycoprotein syndrome type Ib.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 936, doi. 10.1023/A:1005699725822
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15
Contiguous gene deletion syndrome involving glycerol kinase and Duchenne muscular dystrophy loci.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 933, doi. 10.1023/A:1005647608983
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- Article
16
β-Ketothiolase (2-methylacetoacetyl-CoA thiolase) deficiency: A frequent disease in Tunisia?
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 932, doi. 10.1023/A:1005695524913
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17
Mitochondrial respiratory chain defects are not accompanied by an increase in the activities of lactate dehydrogenase or manganese superoxide dismutase in paediatric skeletal muscle biopsies.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 925, doi. 10.1023/A:1005643508075
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18
Hypoglycinaemia and psychomotor delay in a child with xeroderma pigmentosum.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 915, doi. 10.1023/A:1005691424004
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- Article
19
Mitochondrial DNA mutations at nucleotide 8993 show a lack of tissue- or age-related variation.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 899, doi. 10.1023/A:1005639407166
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20
Blood lipids and endothelial function in glycogen storage disease type III.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 891, doi. 10.1023/A:1005687323096
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21
Malonic aciduria in Maltese dogs: Normal methylmalonic acid concentrations and malonyl-CoA decarboxylase activity in fibroblasts.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 883, doi. 10.1023/A:1005635306257
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22
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 867, doi. 10.1023/A:1005683222187
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23
Central nervous system involvement in gyrate atrophy of the choroid and retina with hyperornithinaemia.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 8, p. 855, doi. 10.1023/A:1005602405349
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- Article