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Experience of continuous haemodiafiltration in a male neonate with ornithine transcarbamylase deficiency

✍ Scribed by Shigehiro Enkai; Masaki Yamamoto; Kaori Hayashi; Masaki Kobayashi; Tomohiro Sasajima; Takasuke Amizuka; Wataru Abo


Publisher
Springer
Year
2003
Tongue
English
Weight
130 KB
Volume
162
Category
Article
ISSN
0340-6997

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Ornithine transcarbamylase (OTC) deficie
✍ Ryszard Slomski; Ingrid Braulke; Claudia Behrend; Elisabeth SchrΓΆder; Jean-Pierr πŸ“‚ Article πŸ“… 1992 πŸ› Springer 🌐 English βš– 363 KB

A girl with ornithine transcarbamylase (OTC) deficiency was investigated for molecular and cytogenetic abnormalities that might explain this phenotype. Analysis with polymorphic DNA markers indicated that the patient did not inherit paternal alleles of the OTC locus, but that she did inherit the pro