Secondary carnitine deficiency in the newborn period in twins of a mother with partial ornithine transcarbamylase deficiency
β Scribed by Masayoshi Nagao; Akira Tsuchiyama; Takuo Aoyama; Toshihiko Mori; Kazuhiko Oyanagi
- Book ID
- 119463549
- Publisher
- Elsevier Science
- Year
- 1989
- Tongue
- English
- Weight
- 303 KB
- Volume
- 115
- Category
- Article
- ISSN
- 1097-6833
No coin nor oath required. For personal study only.
π SIMILAR VOLUMES
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
A large family with ornithine transcarbamylase deficiency due to mutation R141Q was ascertained through a propositus who presented with acute neonatal hyperammonemic coma. Of 13 females at risk, 11 were evaluated clinically and had laboratory studies performed. Seven were found to be heterozygous fo