47 research outputs found
Asymptomatic and lateonset ornithine transcarbamylase deficiency caused by a A208T mutation: Clinical, biochemical and DNA analyses in a four‐generation family
Get PDFAsymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation: Clinical, biochemical and DNA analyses in a four-generation family
Get PDFIncreased Myogenic and Protein Turnover Signaling in Skeletal Muscle of Chronic Obstructive Pulmonary Disease Patients With Sarcopenia
Get PDFThe clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol
Get PDFOrthotopic heart transplant rejection in association with immunomodulatory therapy for AL amyloidosis: A case series and review of the literature
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Asymptomatic and late-onset ornithine transcarbamylase (OTC) deficiency in males of a five-generation family, caused by an A208T mutation
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23351___.PDF (publisher's version ) (Open Access
FIRST-TRIMESTER PRENATAL-DIAGNOSIS IN TWIN PREGNANCIES
No full textTwo twin pregnancies at risk for a sex-linked disorder are described. Both pregnancies were dichorionic. Transabdominal sampling was chosen for prenatal diagnosis. Molecular genetic techniques raised suspicion with regard to the accuracy of the samples in one case. Second-trimester amniocentesis confirmed the error. Selective feticide of the affected fetus was performed. When first-trimester prenatal diagnosis is offered in dichorionic twin pregnancies, confirmation through molecular genetic testing can confirm that villi have been obtained from different fetuses. All parties must be aware that additional invasive diagnostic procedures in the second trimester may be required in cases of doubt
Asymptomatic and late-onset ornithine transcarbamylase deficiency caused by a A208T mutation : Clinical, biochemical and DNA analyses in a four-generation family
Get PDFContains fulltext :
25327___.PDF (publisher's version ) (Open Access
