𝔖 Bobbio Scriptorium
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BIRTHWEIGHT IN PATIENTS WITH DEFECTIVE BIOPTERIN METABOLISM

✍ Scribed by Smith, Isabel; Dhondt, Jean-Louis

Book ID
122404511
Publisher
The Lancet
Year
1985
Tongue
English
Weight
158 KB
Volume
325
Category
Article
ISSN
0140-6736

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## Abstract A gene in the heterozygous state appears responsible for a 2‐fold increase in pyrophosphate content of both fibroblasts and lymphoblasts cultured from patients who have dominantly inherited chondrocalcinosis. Cells from unaffected family members of this large kindred showed a pyrophosph