𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Secondary carnitine deficiency in the newborn period in twins of a mother with partial ornithine transcarbamylase deficiency

✍ 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.


πŸ“œ SIMILAR VOLUMES


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

Clinical and biochemical heterogeneity i
✍ Ahrens, Mary J.; Berry, Susan A.; Whitley, Chester B.; Markowitz, Dorothy J.; Pl πŸ“‚ Article πŸ“… 1996 πŸ› John Wiley and Sons 🌐 English βš– 395 KB πŸ‘ 2 views

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