Fourth International Conference on Homocysteine Metabolism; Basel, Switzerland, June 29 - July 3, 2003; Abstracts.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 1, doi. 10.1023/A:1024092300084
- Publication type:
- Article
Works matching IS 01418955 AND DT 2003 AND VI 26 AND IP 1
Results: 19
1
2
Erratum.
- Published in:
- 2003
- Publication type:
- Correction Notice
3
The relationship of plasma glutamine to ammonium and of glycine to acid–base balance in propionic acidaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 89, doi. 10.1023/A:1024048118294
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- Publication type:
- Article
4
Allopurinol challenge tests performed before and after living-related donor liver transplantation in citrullinaemia.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 87, doi. 10.1023/A:1024096001455
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- Publication type:
- Article
5
Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 83, doi. 10.1023/A:1024044017385
- By:
- Publication type:
- Article
6
Hypohomocysteinaemia and highly increased proportion of S-sulfonated plasma transthyretin in molybdenum cofactor deficiency.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 80, doi. 10.1023/A:1024091900547
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- Publication type:
- Article
7
Two adult galactosaemia females with normal ovarian function and identical GALT mutations (Q188R/R333G).
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 75, doi. 10.1023/A:1024039916476
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- Publication type:
- Article
8
Profound neurological presentation resulting from homozygosity for a mild glutaryl-CoA dehydrogenase mutation with a minimal biochemical phenotype.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 72, doi. 10.1023/A:1024087832406
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- Publication type:
- Article
9
3-Hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 69, doi. 10.1023/A:1024083715568
- By:
- Publication type:
- Article
10
Striking improvement of muscle strength under creatine therapy in a patient with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 67, doi. 10.1023/A:1024031714659
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- Publication type:
- Article
11
Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes.
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- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 55, doi. 10.1023/A:1024027630589
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- Publication type:
- Article
12
Abnormal lysosomal inclusions in liver hepatocytes but not in fibroblasts in congenital disorders of glycosylation (CDG).
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 49, doi. 10.1023/A:1024023429680
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- Publication type:
- Article
13
Characteristic growth pattern in male X-linked phosphorylase-b kinase deficiency (GSD IX).
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 43, doi. 10.1023/A:1024071328772
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- Publication type:
- Article
14
Recurrent vomiting and ethylmalonic aciduria associated with rare mutations of the short-chain acyl-CoA dehydrogenase gene.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 37, doi. 10.1023/A:1024019311933
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- Publication type:
- Article
15
Evaluation of 3-methylcrotonyl-CoA carboxylase deficiency detected by tandem mass spectrometry newborn screening.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 25, doi. 10.1023/A:1024015227863
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- Publication type:
- Article
16
Molecular analyses of the HGO gene mutations in Turkish alkaptonuria patients suggest that the R58fs mutation originated from Central Asia and was spread throughout Europe and Anatolia by human migrations.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 17, doi. 10.1023/A:1024063126954
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- Publication type:
- Article
17
Ophthalmic follow-up of patients with tyrosinaemia type I on NTBC.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 13, doi. 10.1023/A:1024011110116
- By:
- Publication type:
- Article
18
Evaluation of nutritional status and pathophysiology of growth retardation in patients with phenylketonuria.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 1, doi. 10.1023/A:1024063726046
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- Publication type:
- Article
19
n-2-Hydroxyglutaric aciduria with absence of corpus callosum and neonatal intracranial haemorrhage.
- Published in:
- Journal of Inherited Metabolic Disease, 2003, v. 26, n. 1, p. 92, doi. 10.1023/A:1024000202364
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- Publication type:
- Article