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| Title: | Phenylketonuria in the Netherlands: 93% of the mutations are detected by single-strand conformation analysis. |
| Author(s): | Sijs-Bos, C.J.M. van der
Diepstraten, C.M.
Juyn, J.A.
Plaisier, M.
Giltay, J.
Spronsen, D.J. van (191338419)
Smit, G.P.A.
Berger, R.A.
Smeitink, J.A.M. (097665606)
Poll-The, B.T.
Ploos van Amstel, J.K. |
| Publication year: | 1996 |
| Document type: | Article / Letter to editor |
| Journal: | Human Heredity |
| ISSN: | 0001-5652 |
| Volume: | vol. 46 |
| Start page: | p. 185 |
| End page: | p. 190 |
| Keywords: | Central Nervous System
Chemistry, Clinical
Energy Metabolism
Fibroblasts
Genetics, Biochemical
Hereditary Diseases
Homocystinuria
Mental Disorders
Metabolic Diseases
Metabolic Processes (Non MeSH)
Metabolism, Inborn Errors
Mitochondria
Mitochondrial Myopathies
Muscle, Skeletal
Mutation
Neural Tube Defects
Neuromuscular Diseases
Pregnancy Complications, Cardiovascular
Vascular Diseases |
| Appears in Collections: | Metis Medische bibliotheek
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Please use this identifier to cite or link to this item:
http://hdl.handle.net/2066/22720
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