Principles of Perinatal–Neonatal Metabolism, 2nd Edition. Edited by Richard M. Cowett.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 587, doi. 10.1023/A:1005515121516
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- Article
Works matching IS 01418955 AND DT 1999 AND VI 22 AND IP 5
Results: 23
1
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A novel exonic mutation in the aspartylglucosaminidase gene causes exon skipping.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 682, doi. 10.1023/A:1005563004678
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- Publication type:
- Article
3
Molecular characterization of Polish patients with classical galactosaemia.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 679, doi. 10.1023/A:1005511020607
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- Article
4
Enantiomeric analysis of D- and L-pipecolic acid in plasma using a chiral capillary gas chromatography column and mass fragmentography.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 677, doi. 10.1023/A:1005558903769
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- Article
5
An 84bp insertion found in a propionic acidaemia patient is not a disease-causing mutation but a product of cryptic mRNA.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 676, doi. 10.1023/A:1005506819699
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- Publication type:
- Article
6
Is the common 844ins68 polymorphism in the cystathionine β-synthase gene associated with atherosclerosis?
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 674, doi. 10.1023/A:1005554702861
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- Publication type:
- Article
7
Ornithine carbamoyltransferase deficiency: Unusual clinical findings and novel mutation.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 672, doi. 10.1023/A:1005502718790
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- Publication type:
- Article
8
Absence of apolipoprotein B3500 mutation in type 2a hyperlipoproteinemia patients and in the general population from Southern Italy.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 670, doi. 10.1023/A:1005550601952
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- Publication type:
- Article
9
A case with early infantile form of galactosialidosis with unusual haematological findings.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 668, doi. 10.1023/A:1005598517882
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- Publication type:
- Article
10
Early-infantile type of galactosialidosis as a cause of heart failure and neonatal ascites.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 666, doi. 10.1023/A:1005546501043
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- Article
11
NTBC as palliative treatment in chronic tyrosinaemia type I.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 665, doi. 10.1023/A:1005594416973
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- Publication type:
- Article
12
Recurrent rhabdomyolysis in a child with glutaric aciduria type I.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 663, doi. 10.1023/A:1005542400135
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- Publication type:
- Article
13
Ceramide accumulation is associated with increased apoptotic cell death in cultured fibroblasts of sphingolipid activator protein-deficient mouse but not in fibroblasts of patients with Farber disease.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 649, doi. 10.1023/A:1005590316064
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- Publication type:
- Article
14
Long-term follow-up following bone marrow transplantation for Hunter disease.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 638, doi. 10.1023/A:1005525931994
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- Publication type:
- Article
15
Intracellular degradation of fluorescent glycolipids by lysosomal enzymes and their activators.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 623, doi. 10.1023/A:1005573812430
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- Publication type:
- Article
16
Personality profiles of mothers of children with mitochondrial disorders.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 615, doi. 10.1023/A:1005521828360
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- Publication type:
- Article
17
Single-cell analysis of mitochondrial DNA in patients and a carrier of the tRNALeu(UUR) gene mutation.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 608, doi. 10.1023/A:1005569711521
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- Publication type:
- Article
18
Progressive neurological deterioration and MRI changes in cblC methylmalonic acidaemia treated with hydroxocobalamin.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 599, doi. 10.1023/A:1005517727451
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- Publication type:
- Article
19
3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 593, doi. 10.1023/A:1005565610613
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- Article
20
Fasting, postprandial, and post-methionine-load homocysteinaemia and methylenetetrahydrofolate reductase polymorphism in vascular disease.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 587, doi. 10.1023/A:1005513626542
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- Publication type:
- Article
21
Liver transplantation for citrullinaemia improves intellectual function.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 581, doi. 10.1023/A:1005561509704
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- Publication type:
- Article
22
An Atlas of Common Metabolic and Genetic Diseases. Mohammed A. Al-Elessa, Nadia A. Sakati, Pinar T. Ozand.
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- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 598, doi. 10.1023/A:1005509525634
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- Publication type:
- Article
23
Manual of Metabolic Diseases. Mohammed A. Al-Elessa and Pinar T. Ozand.
- Published in:
- Journal of Inherited Metabolic Disease, 1999, v. 22, n. 5, p. 592, doi. 10.1023/A:1005587408796
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- Publication type:
- Article