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Cardiomyopathy in fumarylacetoacetase deficiency (hereditary tyrosinaemia): a new feature of the disease

✍ Scribed by B. Lindblad; S. P. Fällström; S. Höyer; C. Nordborg; L. Solymar; H. Velander


Publisher
Springer
Year
1987
Tongue
English
Weight
666 KB
Volume
10
Category
Article
ISSN
0141-8955

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✍ Jason H. Slingsby; Peter Norsworthy; Glen Pearce; Akshay K. Vaishnaw; Helen Issl 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 739 KB

Objective. To describe a new kindred with Clq deficiency and to identify the molecular lesions responsible for complete functional Clq deficiency in this and 2 other previously described kindreds. Methods. The A-, B-, and C-chain genes of Clq were amplified by polymerase chain reaction, cloned, and